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1.

Background  

A community health assessment (CHA) is used to identify and address health issues in a given population. Effective CHA requires timely and comprehensive information from a wide variety of sources, such as: socio-economic data, disease surveillance, healthcare utilization, environmental data, and health resource allocation.  相似文献   
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Silver‐Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS‐like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG‐DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%–10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS‐like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype–genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine‐Harbison clinical scoring system (NH‐CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.  相似文献   
3.
Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%–15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2–83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.  相似文献   
4.
Chantelau E  Gede A 《Gerontology》2002,48(4):241-244
BACKGROUND: Injuries from footwear are common in elderly people, particularly in those with diabetes mellitus and polyneuropathy. A common cause is a mismatch between foot and shoe. OBJECTIVE: To assess the length and the breadth of the feet by an automatic measuring device in 568 patients with diabetic polyneuropathy and in 100 nondiabetic control subjects of the same mean age of 64 years. RESULTS: While the foot length in all cases matched well with the size of the normal footwear available on the market, more than two thirds of the feet were considerably broader than the normal footwear available. The foot breadth correlated variably with the foot length. Tables of foot dimensions for men and women are provided over the complete range of shoe sizes. CONCLUSIONS: This anthropometric data set on feet, which is the first conducted in elderly people, proves that most feet of elderly people with or without diabetic neuropathy do not fit ordinary casual footwear. Therefore, the construction of shoes according to the anthropometric data of elderly people is required in order to prevent foot injuries in this particular population.  相似文献   
5.
AIM: To determine the frequency and patterns of uncorrected refractive error (URE) across 4 gradients of residential densities (urban, exurban, suburban and rural) in Indonesia. METHODS: This was a cross-sectional study of school children from 3 districts in Yogyakarta and 1 district near Yogyakarta, Indonesia. The information regarding age, sex, school and school grader were recorded. The Snellen’s chart was used to measure the visual acuity and to perform the subjective refraction. The district was then divided into urban, suburban, exurban and rural area based on their location and population. RESULTS: In total, 410 school children were included in the analyses (urban=79, exurban=73, suburban=160 and rural=98 school children). Urban school children revealed the worst visual acuity (P<0.001) and it was significant when compared with exurban and rural. The proportion of URE among urban, suburban, exurban and rural area were 10.1%, 12.3%, 3.8%, and 1%, respectively, and it was significant when compared to the proportion of emetropia and corrected refractive error across residential densities (P=0.003). The risk of URE development in urban, suburban, exurban, and rural were 2.218 (CI: 0.914-5.385), 3.019 (CI: 1.266-7.197), 0.502(CI: 0.195-1.293), and 0.130 (CI: 0.017-0.972), respectively. CONCLUSION: URE is a major health problem among school children. Urban school children showed the worst VA. The school children in urban and suburban residential area had 2 and 3 times higher risk of developing the URE.  相似文献   
6.
Objective: Molecular based predictive biomarkers have been developed but still unaffordable in developing countries. The leukocyte ratio is known as a promising, affordable and practical biomarker. However, the evidence to support their application is still lacking, especially from developing countries. Therefore, this study aimed to evaluate the association between leukocytes count ratios as predictive markers of metastasis in luminal type breast cancer. Methods: A retrospective cross-sectional study was conducted using breast cancer patient data obtained at Sanglah General Hospital (2016-2020). Complete blood count (CBC) and histopathological records of the patients were collected and the basophil-to-lymphocyte ratio (BLR), neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), and platelet-to-lymphocyte ratio (PLR) were calculated. Tumor stadium was classified into early (I-II) and advance (III-IV) stage while distant metastasis was classified into M0 and M1. Data were then analyzed using ROC curve and then followed by chi square and logistic regression analysis to obtain OR value. Results: Two hundred eighty-three  luminal breast cancer patient data were used in this study with mean age 49.27 ± 9.451. Most of the patient had advanced disease (177 patients; 62.5%) while metastatic disease accounted for 54 patients (19.1%) of all patients. Patients with metastatic disease had higher median of BLR, MLR, NLR and PLR (0.043 ± 0.025, p=0.034; 0.289 ± 0.285, p=0.008; 3.489 ± 5.027, p=0.044; 159.538 ± 127.79, p=0.008) than patients without metastasis. The AUC (sensitivity and specificity) of BLR, MLR, NLR and PLR in predicting metastasis were 0.593 (51%; 65%), 0.616 (35%; 89%), 0.588 (46%; 75%) and 0.615 (40%; 81%), respectively. In multivariate risk analysis model, patients with metastasis were found in high BLR (Adjusted OR: 2.045; 95%CI=1.123-3.723; p=0.019), MLR (Adjusted OR: 4.862; 95%CI=2.401-9.844; p<0.001), NLR (Adjusted OR: 2.727; 95%CI=1.475-5.044; p=0.001) and PLR (Adjusted OR: 3.061; 95%CI=1.618-5.792; p=0.001). Conclusion: Pretreatment leukocyte ratios are potential predictive markers for metastasis. However, these findings need to be validated in larger and prospective studies with more comprehensive design.  相似文献   
7.
ObjectivesThe aim of this study was to elucidate the effect of application-based antenatal education based on social cognitive theory (SCT) on Health Promoting Lifestyle Profile II (HPLP II) scores, compliance with iron tablet consumption, and readiness for childbirth and complications among pregnant women in Denpasar, Bali, Indonesia.Methods This randomized controlled trial included 71 pregnant women in the treatment group and 74 pregnant women in the control group. The treatment group application-based antenatal education based on SCT, while the control group attended a conventional pregnancy class. Iron tablet consumption was verified by counting the remaining iron tablets. Information on participants’ lifestyles was collected using the HPLP II questionnaire with the help of an assistant. The collected data were statistically analyzed using IBM SPSS ver. 24.0.Results The antenatal education intervention effectively increased the HPLP II score by 0.32 points (2.62±0.331 before the intervention and 2.94±0.273 after). Meanwhile, the control group had a 0.13-point increase (p=0.001), from 2.67±0.336 to 2.80±0.275. There was no significant difference in iron tablet consumption (p=0.333) or readiness for delivery and complications (p=0.557) between the treatment and control groups.Conclusion Application-based antenatal education with SCT effectively increased the HPLP II scores of pregnant women in Denpasar, Bali. Although there was no significant difference in iron tablet consumption or readiness for delivery and complications, the values increased to a greater extent in the treatment group than in the control group. This education model is more suited to urban pregnant women who employed and have good internet access.  相似文献   
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To meet their requirements for bone mineralization, it is recommended that preterm infants receive nutritional support containing calcium and phosphate. There are no clear data on the incidence of osteopenia of prematurity (OFP) in preterm infants without phosphate supplementation.This study aimed to investigate the incidence of OFP in preterm infants without phosphate supplementation and its relationship with the duration of parenteral nutrition (PN).This was a prospective and observational study.This study included 30 infants aged <32 gestational weeks and weighed <1500 g at birth. All infants received PN according to a standard protocol, beginning on day 1 with calcium, without phosphate. Starting from the first day of life, all infants received human milk without fortifiers. Oral vitamin D (400 IU/d) was administered when enteral nutrition reached 100 mL/kg/d.The diagnosis of OFP was based on radiographs that were taken of both wrists. Serum alkaline phosphatase (ALP) was measured 3 times: at the start of PN (ALP 1), at the end of PN (ALP 2), and at discharge or the expected due date (ALP 3). Radiographs were obtained on the same day as ALP 3. The duration of PN was analyzed in the presence of OFP using receiver operating characteristic curve analysis.Among the 30 infants, 13 (43%) were diagnosed with OFP. The duration of PN was significantly longer in the OFP group than in the group without OFP (16 vs 12 days; P < .05). The provision of PN for >15 days significantly increased the risk of OFP (odds ratio, 5.40; 95% confidence interval, 1.12–26.04; P = .035).We found a high incidence of OFP in preterm infants without phosphate supplementation. An association was found between the duration of PN and the incidence of OFP. Further research is needed to prevent the development of osteopenia in preterm infants.  相似文献   
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