Tag: pubmed

Genome Med. 2021 Mar 9;13(1):39. doi: 10.1186/s13073-021-00848-4.

ABSTRACT

BACKGROUND: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production; however, an independent vascular contribution is also suspected. Here, we use statistical genetics to dissect the causal mechanisms underpinning this complex disease.

METHODS: We integrated genetic markers for MacTel, vascular and metabolic traits, and applied Mendelian randomisation and conditional and interaction genome-wide association analyses to discover the causal contributors to both disease and spatial retinal imaging sub-phenotypes.

RESULTS: Genetically induced serine deficiency is the primary causal metabolic driver of disease occurrence and progression, with a lesser, but significant, causal contribution of type 2 diabetes genetic risk. Conversely, glycine, threonine and retinal vascular traits are unlikely to be causal for MacTel. Conditional regression analysis identified three novel disease loci independent of endogenous serine biosynthetic capacity. By aggregating spatial retinal phenotypes into endophenotypes, we demonstrate that SNPs constituting independent risk loci act via related endophenotypes.

CONCLUSIONS: Follow-up studies after GWAS integrating publicly available data with deep phenotyping are still rare. Here, we describe such analysis, where we integrated retinal imaging data with MacTel and other traits genomics data to identify biochemical mechanisms likely causing this disorder. Our findings will aid in early diagnosis and accurate prognosis of MacTel and improve prospects for effective therapeutic intervention. Our integrative genetics approach also serves as a useful template for post-GWAS analyses in other disorders.

PMID:33750426 | DOI:10.1186/s13073-021-00848-4

Ital J Pediatr. 2021 Mar 9;47(1):55. doi: 10.1186/s13052-021-01010-x.

ABSTRACT

BACKGROUND: Lack of exclusive breastfeeding during the first half-year of life is an important risk factor for childhood morbidity and mortality. Despite this, less than 40% of infants below 6 months are exclusively breastfed worldwide. This is because breastfeeding is declining and being replaced by formula feeding. Nowaday, formula feeding has become a more common practice in urban communities of developing countries. However, relatively little information is available regarding formula feeding practice and its associated factors in Ethiopia, particularly in Addis Ababa. Hence, this study was aimed at assessing the prevalence of formula feeding practice and its associated factors among mothers of an infant aged 0-6 months in Addis Ababa, Ethiopia.

METHODS: A community-based cross-sectional study was conducted from April-1 to May 30/2020 among 494 mothers with infants 0-6 months of age. Data were collected using a pre-tested structured questionnaire. Data were entered and cleaned by using Epi data version 3.1 and analysed by SPSS software version 25. Then data were processed by using descriptive analysis, including frequency distribution, and summary measures. The degree of association was assessed using binary logistic regression analysis. P-value < 0.05 was considered statistically significant.

RESULT: The prevalence of formula feeding and pre-lacteal feeding practice was 46.2 and 34.4%, respectively. Educational status with a diploma and above (AOR = 3.09, 95%CI: 1.56-6.14), delivery by cesarean section (AOR = 6.13, 95%CI: 4.01-9.37), pre-lacteal feeding practice (AOR = 7.61, 95%CI: 4.11-11.06), and delayed initiation of breastfeeding (after 1 h to 1 day (AOR = 3.43, 95% CI: 1.59-7.40), after 1 day to 3 days (AOR = 3.71, 95% CI: 1.51-9.41), and after 3 days (AOR = 5.41, 95% CI: 2.15-13.60)) were significantly associated with formula feeding practice.

CONCLUSIONS: Nearly half of the participants were practiced formula-feeding for their infant. Educational status of mothers, the timing of initiation of breastfeeding, delivery by cesarean section, and pre-lacteal feeding practice were significantly associated with formula feeding practice. Therefore, early initiation of breastfeeding, educating mothers about the risks associated with pre-lacteal feeding, and supporting mothers who gave birth by cesarean section for exclusive breastfeeding should be encouraged at the community and institutional levels.

PMID:33750442 | DOI:10.1186/s13052-021-01010-x

Ital J Pediatr. 2021 Mar 9;47(1):57. doi: 10.1186/s13052-021-01002-x.

ABSTRACT

BACKGROUND: Benign acute childhood myositis (BACM) is a self-limited syndrome associated with viral infections characterized by symmetric lower extremity pain typically affecting school-aged children. Evolution in rhabdomyolysis and kidney damage is rarely reported. Despite this, the acute presentation commonly concerns both parents and health care providers, often leading to unnecessary workup. The aim of the study was to determine the features and outcome of a large series of children with BACM identifying a management pathway for pediatricians in Emergency Department (ED).

METHODS: We conducted a retrospective study of patients with BACM managed in 2 Italian pediatric ED during a period of 8 and a half years. Demographic data, clinical, and laboratory results were extracted from electronic medical records. Recurrence, complications, treatments, and outcomes were also recorded. Descriptive statistics were produced for first-episode patients and for those with recurrence of myositis. A comparison between groups was performed.

RESULTS: One hundred and thirteen patients with BACM were identified. Ninety-two children (65 males) had a single episode, while ten (nine males) had recurrence. The mean age at presentation was 6.0 years (range 2-13,2). All patients had normal neurological examination and no one developed myoglobinuria, or renal failure. At first evaluation median CK level was 1413 UI/l (normal values < 150 U/L). Median CK of “recurrent” patients was higher than “non-recurrent” (2330 vs 1150 U/L, p = 0.009). Viral studies were positive in 51/74 cases, with high prevalence of Influenza viruses. Ninety-six patients (85%) were hospitalized with a median of 4 days. No patients had any residual muscular impairment.

CONCLUSIONS: BACM has an excellent prognosis. Severe pathological conditions can be excluded with a complete history and clinical examination and simple blood and urine tests, avoiding unnecessary diagnostic investigations. Most patients may be discharged home from ED recommending hydration, rest, analgesics and careful follow-up.

PMID:33750449 | DOI:10.1186/s13052-021-01002-x

J Orthop Surg Res. 2021 Mar 9;16(1):180. doi: 10.1186/s13018-021-02325-5.

ABSTRACT

BACKGROUND: Acromioclavicular joint dislocation is a shoulder joint injury common in the clinical setting and is generally surgically treated with clavicular hook plate technique with confirmed curative effect. However, symptoms such as shoulder abduction limitation, shoulder discomfort and joint pain postoperatively may occur in some patients. Therefore, this study aimed to explore whether the existing clavicular hook plate can be reasonably selected to reduce the incidence of subacromial impingement syndrome (SIS) and provide a reference for clinical diagnosis and treatment.

MATERIALS AND METHODS: Patients with SIS admitted from March 2018 to June 2020 were selected as the experimental group and asymptomatic patients postoperatively, as the control group. The hook end depth and acromial height of the hook plate used in patients were recorded, and the difference between them was calculated.

RESULTS: The difference between the hook plate depth and acromial height was 7.500±1.912 mm and 6.563±1.537 mm in the experimental and control groups, respectively, with statistically significant difference (t=3.021, P=0.006). A difference of >0.6 mm as a grouping index is required to perform a single factor analysis, with statistically significant difference (t=3.908, P=0.048).

CONCLUSIONS: The occurrence of SIS after placing the clavicular hook plate may be related to the difference between its depth and the acromial height. A difference of >6 mm may be a factor affecting the occurrence of SIS. Pre-imaging measurement of the acromial height can provide suggestions for selecting the type of hook plate intraoperatively.

PMID:33750451 | DOI:10.1186/s13018-021-02325-5

BMC Sports Sci Med Rehabil. 2021 Mar 9;13(1):23. doi: 10.1186/s13102-021-00251-x.

ABSTRACT

BACKGROUND: We aimed to determine the effectiveness of 4 weeks of balance exercise compared with no intervention on objectively measured postural sway.

METHODS: This was a single-center parallel randomized controlled, open label, trial. A six-sided dice was used for allocation at a 1:1-ratio between exercise and control. The trial was performed at a university hospital clinic in Sweden and recruited community-dwelling older adults with documented postural instability. The intervention consisted of progressively challenging balance exercise three times per week, during 4 weeks, with follow-up at week five. Main outcome measures were objective postural sway length during eyes open and eyes closed conditions.

RESULTS: Sixty-five participants aged 70 years (balance exercise n = 32; no intervention n = 33) were randomized. 14 participants were excluded from analysis because of early dropout before follow-up at week five, leaving 51 (n = 22; n = 29) participants for analysis. No significant differences were detected between the groups in any of the postural sway outcomes. Within-group analyses showed significant improvements in hand grip strength for the intervention group, while Timed Up & Go improvements were comparable between groups but only statistically significant in the control group.

CONCLUSIONS: Performing balance exercise over a four-week intervention period did not acutely improve postural sway in balance-deficient older adults. The lower limit in duration and frequency to achieve positive effects remains unclear.

TRIAL REGISTRATION: Clinical trials NCT03227666 , July 24, 2017, retrospectively registered.

PMID:33750421 | DOI:10.1186/s13102-021-00251-x

Plant Methods. 2021 Mar 9;17(1):27. doi: 10.1186/s13007-021-00727-4.

ABSTRACT

BACKGROUND: Stomata analysis using microscope imagery provides important insight into plant physiology, health and the surrounding environmental conditions. Plant scientists are now able to conduct automated high-throughput analysis of stomata in microscope data, however, existing detection methods are sensitive to the appearance of stomata in the training images, thereby limiting general applicability. In addition, existing methods only generate bounding-boxes around detected stomata, which require users to implement additional image processing steps to study stomata morphology. In this paper, we develop a fully automated, robust stomata detection algorithm which can also identify individual stomata boundaries regardless of the plant species, sample collection method, imaging technique and magnification level.

RESULTS: The proposed solution consists of three stages. First, the input image is pre-processed to remove any colour space biases occurring from different sample collection and imaging techniques. Then, a Mask R-CNN is applied to estimate individual stomata boundaries. The feature pyramid network embedded in the Mask R-CNN is utilised to identify stomata at different scales. Finally, a statistical filter is implemented at the Mask R-CNN output to reduce the number of false positive generated by the network. The algorithm was tested using 16 datasets from 12 sources, containing over 60,000 stomata. For the first time in this domain, the proposed solution was tested against 7 microscope datasets never seen by the algorithm to show the generalisability of the solution. Results indicated that the proposed approach can detect stomata with a precision, recall, and F-score of 95.10%, 83.34%, and 88.61%, respectively. A separate test conducted by comparing estimated stomata boundary values with manually measured data showed that the proposed method has an IoU score of 0.70; a 7% improvement over the bounding-box approach.

CONCLUSIONS: The proposed method shows robust performance across multiple microscope image datasets of different quality and scale. This generalised stomata detection algorithm allows plant scientists to conduct stomata analysis whilst eliminating the need to re-label and re-train for each new dataset. The open-source code shared with this project can be directly deployed in Google Colab or any other Tensorflow environment.

PMID:33750422 | DOI:10.1186/s13007-021-00727-4

BMC Endocr Disord. 2021 Mar 9;21(1):44. doi: 10.1186/s12902-021-00706-9.

ABSTRACT

BACKGROUND: The human ovary is the target of autoimmune attack in cases of autoimmune disorders, which can cause ovarian dysfunction. Due to the higher prevalence of Hashimoto’s Thyroiditis (HT) in Polycystic Ovary Syndrome (PCOS) patients, we aimed to evaluate ovarian reserve and the effect of autoimmune exposure time on ovarian reserve in PCOS patients with HT by Anti-Müllerian hormone (AMH) levels.

METHODS: Forty-six PCOS patients and 46 PCOS with HT diagnosed patients who are between 18 and 35 years old were recruited for this study. Detailed medical histories were obtained from all participants. Polycystic ovary image was evaluated and antral follicles were counted by transvaginal ultrasound. Modified Ferriman Gallwey score, body mass index, waist/hip ratio of the patients were examined. Hormonal, biochemical profiles and AMH levels of the patients were evaluated during the early follicular phase. The data of both groups were statistically analyzed with SPSS 18.0.

RESULTS: 20 (43.5%) patients in the PCOS group were fertile, 8 (17.4%) patients in the PCOS + HT group were fertile, fertility rate was significantly lower in PCOS + HT group. The mean AMH value was 8.8 ± 8.8 in the PCOS + HT group and 12.4 ± 8.1 in the PCOS group and it was significantly lower in the PCOS + HT group (p = 0.043). AMH values were significantly negatively correlated with anti-thyroid peroxidase antibody (anti-TPO) level and the duration of HT. There was a significant positive correlation between the anti-TPO level and the duration of HT. CONCLUSıON: We pointed out that the coexistence of PCOS and HT, two prevalent diseases of reproductive age, further diminished ovarian reserve. More exposure of the ovaries to autoantibodies can cause ovarian destruction, similar to the thyroid gland like HT. Because of all these close relations with PCOS and thyroid dysfunctions, we recommend evaluating both thyroid autoantibodies and hormone levels in PCOS patients at the first visit. Patients with PCOS + HT should be monitored more closely to determine the fertility treatment options and control premature ovarian failure (POF) table.

PMID:33750377 | DOI:10.1186/s12902-021-00706-9

Theor Biol Med Model. 2021 Mar 9;18(1):10. doi: 10.1186/s12976-021-00140-3.

ABSTRACT

BACKGROUND: The COVID-19 pandemic poses a serious threat to global health, and pathogenic mutations are a major challenge to disease control. We developed a statistical framework to explore the association between molecular-level mutation activity of SARS-CoV-2 and population-level disease transmissibility of COVID-19.

METHODS: We estimated the instantaneous transmissibility of COVID-19 by using the time-varying reproduction number (R_t). The mutation activity in SARS-CoV-2 is quantified empirically depending on (i) the prevalence of emerged amino acid substitutions and (ii) the frequency of these substitutions in the whole sequence. Using the likelihood-based approach, a statistical framework is developed to examine the association between mutation activity and R_t. We adopted the COVID-19 surveillance data in California as an example for demonstration.

RESULTS: We found a significant positive association between population-level COVID-19 transmissibility and the D614G substitution on the SARS-CoV-2 spike protein. We estimate that a per 0.01 increase in the prevalence of glycine (G) on codon 614 is positively associated with a 0.49% (95% CI: 0.39 to 0.59) increase in R_t, which explains 61% of the R_t variation after accounting for the control measures. We remark that the modeling framework can be extended to study other infectious pathogens.

CONCLUSIONS: Our findings show a link between the molecular-level mutation activity of SARS-CoV-2 and population-level transmission of COVID-19 to provide further evidence for a positive association between the D614G substitution and R_t. Future studies exploring the mechanism between SARS-CoV-2 mutations and COVID-19 infectivity are warranted.

PMID:33750399 | DOI:10.1186/s12976-021-00140-3

Plant Methods. 2021 Mar 9;17(1):26. doi: 10.1186/s13007-021-00726-5.

ABSTRACT

BACKGROUND: Wheat spike architecture is a key determinant of multiple grain yield components and detailed examination of spike morphometric traits is beneficial to explain wheat grain yield and the effects of differing agronomy and genetics. However, quantification of spike morphometric traits has been very limited because it relies on time-consuming manual measurements.

RESULTS: In this study, using X-ray Computed Tomography imaging, we proposed a method to efficiently detect the 3D architecture of wheat spikes and component spikelets by clustering grains based on their Euclidean distance and relative positions. Morphometric characteristics of wheat spikelets and grains, e.g., number, size and spatial distribution along the spike can be determined. Two commercial wheat cultivars, one old, Maris Widgeon, and one modern, Siskin, were studied as examples. The average grain volume of Maris Widgeon and Siskin did not differ, but Siskin had more grains per spike and therefore greater total grain volume per spike. The spike length and spikelet number were not statistically different between the two cultivars. However, Siskin had a higher spikelet density (number of spikelets per unit spike length), with more grains and greater grain volume per spikelet than Maris Widgeon. Spatial distribution analysis revealed the number of grains, the average grain volume and the total grain volume of individual spikelets varied along the spike. Siskin had more grains and greater grain volumes per spikelet from spikelet 6, but not spikelet 1-5, compared with Maris Widgeon. The distribution of average grain volume along the spike was similar for the two wheat cultivars.

CONCLUSION: The proposed method can efficiently extract spike, spikelet and grain morphometric traits of different wheat cultivars, which can contribute to a more detailed understanding of the sink of wheat grain yield.

PMID:33750418 | DOI:10.1186/s13007-021-00726-5

BMC Med Imaging. 2021 Mar 9;21(1):45. doi: 10.1186/s12880-021-00578-4.

ABSTRACT

OBJECTIVE: To investigate left atrial shape differences on CT scans of atrial fibrillation (AF) patients with (AF+) versus without (AF-) post-ablation recurrence and whether these shape differences predict AF recurrence.

METHODS: This retrospective study included 68 AF patients who had pre-catheter ablation cardiac CT scans with contrast. AF recurrence was defined at 1 year, excluding a 3-month post-ablation blanking period. After creating atlases of atrial models from segmented AF+ and AF- CT images, an atlas-based implicit shape differentiation method was used to identify surface of interest (SOI). After registering the SOI to each patient model, statistics of the deformation on the SOI were used to create shape descriptors. The performance in predicting AF recurrence using shape features at and outside the SOI and eight clinical factors (age, sex, left atrial volume, left ventricular ejection fraction, body mass index, sinus rhythm, and AF type [persistent vs paroxysmal], catheter-ablation type [Cryoablation vs Irrigated RF]) were compared using 100 runs of fivefold cross validation.

RESULTS: Differences in atrial shape were found surrounding the pulmonary vein ostia and the base of the left atrial appendage. In the prediction of AF recurrence, the area under the receiver-operating characteristics curve (AUC) was 0.67 for shape features from the SOI, 0.58 for shape features outside the SOI, 0.71 for the clinical parameters, and 0.78 combining shape and clinical features.

CONCLUSION: Differences in left atrial shape were identified between AF recurrent and non-recurrent patients using pre-procedure CT scans. New radiomic features corresponding to the differences in shape were found to predict post-ablation AF recurrence.

PMID:33750343 | DOI:10.1186/s12880-021-00578-4