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DOAJ Open Access 2025
Clinical characteristics and contributors to diagnostic delay in autoimmune gastritis

LI Haofeng, MA He, FU Tao

Abstract Objective To analyze the diagnostic process and clinical characteristics of autoimmune gastritis(AIG) in order to improve the awareness and diagnostic proficiency of this disease. Methods A retrospective cohort study was conducted on 114 patients diagnosed with AIG in Army Medical Center of PLA between January 2021 and June 2024. Comprehensive statistical analysis was performed on clinical data, including demographic characteristics(age, sex), clinical symptoms, comorbidities, diagnostic process, Helicobacter pylori(H. pylori) infection and treatment history, laboratory indicators [results of routine blood test, anemia-related indices, thyroid function, anti-parietal cell antibody(APCA), intrinsic factor antibody(IFA)], and gastrointestinal endoscopic findings(frequency and endoscopic features). Results Among the 114 patients, males accounted for 28.1%(32/114) and females for 71.9%(82/114), and they were at a mean age of 56.3±8.4 years. Predominant symptoms included epigastric/upper abdominal pain(47.4%, 54/114) and postprandial fullness(43.0%, 49/114), while 24.6%(28/114) reported acid reflux or heartburn. Diagnostic delay occurred in 76.4%(87/114) of patients, with a median delay duration of 11.5 months. Primary diagnostic clues were endoscopic reverse gradient atrophy(significantly more severe mucosal atrophy in the gastric corpus/fundus versus antrum; 53.5%, 61/114) and repeated H. pylori eradication failure(≥2 attempts; 22.8%, 26/114). Positivity rate of thyroid peroxidase antibody(TPOAb) and thyroglobulin antibody(TgAb) was 56.9%(33/58) and 36.2%(21/58), respectively. APCA positive rate was 98.8%(81/82), IFA positive rate was 34.1%(28/82), and dual-antibody rate was 32.9%(27/82). Anemia was present in 25.7%(26/101) of the patients. Gastric neuroendocrine tumors(NET) were found in 12.2%(14/114), intraepithelial neoplasia in 5.3%(6/114), and gastric adenocarcinoma in 0.9%(1/114). Among colonoscopy-examined patients, tubular adenomas occurred in 25.0%(13/52) and colorectal malignancies in 3.4%(2/58). There were 18.4%(21/114) patients having gallbladder-related diseases, 7.9%(9/114) having diabetes mellitus, and 1.8%(2/114) of subacute combined degeneration of the spinal cord. Conclusion AIG is frequently associated with diagnostic delay. The reverse pattern of atrophy on endoscopy serves as a critical diagnostic clue, necessitating enhanced recognition in endoscopists. Patients with recurrent H. pylori eradication failure (≥2 attempts) should be evaluated for AIG.

Medicine (General)
DOAJ Open Access 2025
The Monthly Cycling of Food Insecurity in Latinas at Risk for Diabetes: Methods, Retention, and Sample Characteristics for a Microlongitudinal Design

Angela Bermúdez-Millán, Rafael Pérez-Escamilla, Sofia Segura-Pérez et al.

Abstract BackgroundFood insecurity (FI) is a risk factor for type 2 diabetes (T2D) that disproportionately affects Latinas. We conducted a microlongitudinal study to examine the relationship of monthly cycling of FI and diabetes risk factors. ObjectiveThis study aimed to determine the quantitative methodology, recruitment and retention strategies, predictors of retention across time, and baseline sample demographics. MethodsParticipants were adult Latinas living in Hartford, Connecticut who were recruited through a community agency, invited to participate if they were receiving Supplementary Nutrition Assistance Program (SNAP) benefits, screened positive for FI using the 2-item Hunger Vital Sign Screener, and had elevated risk factors for T2D using the American Diabetes Association risk factor test. Using a microlongitudinal design, we collected data twice per month for 3 months (week 2, which is a period of food budget adequacy; and week 4, which is a period of food budget inadequacy) to determine if the monthly cycling of FI was associated with near-term diabetes risk (fasting glucose, fructosamine, and glycosylated albumin) and long-term risk (BMI, waist circumference, and glycated hemoglobin) markers. We determined whether household food inventory, psychological distress, and binge eating mediated associations. We examined Health Action Process Approach model constructs. To assess the relationship between monthly cycling of FI with diabetes risk markers, we used repeated measures general linear mixed models. To assess the role of mediators, we performed a causal pathway analysis. ResultsParticipant enrollment was from April 1, 2021 to February 21, 2023. A total of 87 participants completed 420 assessments or a mean of 4.83 (SD 2.02) assessments. About half (47/87, 54%) of the sample self-identified as Puerto Rican, mean age was 35.1 (SD 5.8) years, with 17.1 (SD 11.6) years in the mainland United States. Just under half (41/87, ) spoke Spanish only, 69% (60/87) had no formal schooling, and 31% (27/87) had less than eighth ConclusionsThis study demonstrated how FI cycles over the month and whether and to what degree the cycling itself is related to the risk for T2D development, as well as the evidence for some putative mechanisms of this association that can serve as future intervention targets including SNAP disbursement schedules.

DOAJ Open Access 2025
Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene Variants

Giorgio Sodero, Federica Arzilli, Elena Malavolta et al.

Background: Among the potential indications for growth hormone (GH) therapy is the presence of mutations in the SHOX (short stature homeobox-containing) gene, located in the telomeric pseudotautosomal region (PAR1) on the short arm of both sex chromosomes. Despite general recommendations supporting GH therapy in these cases, there is a lack of comprehensive evidence specifically evaluating its efficacy and safety in this subgroup of pediatric patients. Aim: The objective of this scoping review was to evaluate the efficacy and safety of growth hormone therapy in patients with SHOX gene variants, providing a narrative synthesis of the included studies. Materials and Methods: This scoping review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) extension for scoping reviews. We summarized information extracted from 22 articles identified by our search strategy. Currently, only one randomized clinical trial has analyzed the efficacy profile of GH in patients with SHOX mutations. Results: Growth hormone is a valuable therapeutic aid for these patients. However, its prescription in children with SHOX gene mutations should consider the specific characteristics of each patient, similar to the approach taken for patients with idiopathic growth hormone deficiency (GHD). Conclusion: Growth hormone therapy in patients with SHOX gene alterations appears to be both safe and effective. However, longitudinal prospective studies and targeted clinical trials are necessary to confirm these findings. Despite this, GH remains one of the preferred hormonal therapies for patients with short stature and confirmed SHOX gene mutations.

DOAJ Open Access 2025
Drug-induced Brugada syndrome: Case report

Yuri N. Fedulaev, Irina V. Makarova, Fatima G. Magomedova et al.

Brugada syndrome (BrS) is an inherited clinical and electrocardiographic syndrome, related to ion channelopathies and associated with an increased risk of sudden cardiac death. The cornerstone in diagnosis remains a spontaneous type 1 Brugada-pattern on the electrocardiogram (ECG), including J point elevation of ≥ 2 mm, coved-type ST segment elevation and T wave inversion in right precordial leads. Similar ECG changes, induced by antiarrhythmic therapy, should be considered as diagnostic when combined with a documented polymorphic ventricular tachycardia or ventricular fibrillation episode, arrhythmogenic syncope, nocturnal agonal breathing or a family history of sudden cardiac death or BrS. The article represents a clinical case of drug-induced type 1 Brugada-pattern in the settings of antiarrhytmic treatment using 1C class sodium channel blocker ethacizine in a female without additional BrS criteria, with negative genetic testing results and the ECG normalization after drug withdrawal.

Medicine (General), Therapeutics. Pharmacology
DOAJ Open Access 2025
Psychometric evaluation of the Chinese version of Risky Loot Box Index (RLI) and cross-sectional investigation among gamers of China

Peidong Guo, Yueheng Liu, Luyin Tan et al.

Nowadays, many of the top-selling video games include options to purchase loot boxes as paid virtual items. As research progressed, loot boxes have been found to have similar characteristics to gambling, and there has been an ongoing debate as to whether loot boxes can be defined as gambling. In order to better study loot boxes, psychometrically meaningful scales are necessary. The Risky Loot Box Index (RLI) was developed by Brooks and Clark, which is the most commonly used tool to assess the use of loot boxes. This study aimed to translate the original RLI into Chinese and evaluate its psychometric properties. Two samples were recruited through online gaming forums (n = 143) and offline internet cafes (n = 236). An exploratory factor analysis of the online sample yielded a one-dimensional nine-item model, with the factor focused on risky behaviors associated with loot boxes. The confirmatory factor analysis carried out on the offline sample corroborated the results obtained from the exploratory factor analysis, and the Chinese version of the RLI displays satisfactory psychometric properties. Furthermore, the Problem Gambling Severity Index (r = 0.57, P < 0.001) and the Internet Gaming Disorder Scale-Short Form (r = 0.67, P < 0.001) were found to be significantly associated with the RLI. We also found that players with high RLI scores may have higher levels of anxiety and depression, and they were more willing to spend money on loot boxes, with some spending nearly all their earnings. Interestingly, no significant correlations between age, gender, education, or income level, and the RLI were found.

Medicine, Biology (General)
DOAJ Open Access 2025
Fear of Falling After Total Knee Replacement: A Saudi Experience

Turki Aljuhani, Jayachandran Vetrayan, Mohammed A. Alfayez et al.

<b>Background</b>: Fear of falling (FOF) is a significant concern among older adults, especially after total knee arthroplasty (TKA). FOF can limit daily activities, reduce quality of life, and hinder recovery. This study aimed to investigate the prevalence, severity, and impacts of FOF in patients undergoing TKA and identify factors contributing to increased FOF. <b>Methods</b>: A prospective observational study was conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia, from April 2024 to December 2024. This study included 52 participants aged 20 to 75 years who had undergone primary TKA. Data were collected at two time points: after TKA and at three months post-surgery. The Short Falls Efficacy Scale-International (SFES-I) was used to assess the severity of FOF, and the Short Form 36 (SF-36) was used to measure the quality of life. Descriptive statistics, <i>t</i>-tests, and logistic regression were used for analysis. <b>Results</b>: This study included 52 participants (mean age: 63.77 ± 6.65 years; 82.7% female). Post-TKA, all participants exhibited high FOF (mean SFES-I score: 56.75 ± 8.30). After three months, the mean SFES-I score decreased significantly to 49.04 ± 12.45 (<i>t</i> = 4.408, <i>p</i> < 0.05). Post-TKA, SF-36 showed significant improvements in the physical function, role of physical limitations, bodily pain, vitality, social function, role of emotional limitations, and mental health subdomains. Bilateral total knee arthroplasty, body mass index, and some SF-36 subcomponents—such as general health, vitality, and role of emotional limitations—were identified as factors leading to increased FOF. <b>Conclusions</b>: FOF remains prevalent and severe in TKA patients, even at three months post-surgery, affecting rehabilitation outcomes. Early identification and tailored interventions for FOF should be considered essential components of comprehensive TKA recovery programs.

Medicine (General)
DOAJ Open Access 2024
Research on the TSPAN6 regulating the secretion of ADSCs-Exos through syntenin-1 and promoting wound healing

Zhihua Qiao, Xiancheng Wang, Hongli Zhao et al.

Abstract Background Exosomes (Exos) from adipose-derived stem cells (ADSCs) have a high inclusion content and low immunogenicity, which helps to control inflammation and accelerate the healing of wounds. Unfortunately, the yield of exosomes is poor, which raises the expense and lengthens the treatment period in addition to impairing exosomes’ therapeutic impact. Thus, one of the key problems that needs to be resolved in the current exosome study is increasing the exosome yield. Methods Tetraspanin-6 (TSPAN6) overexpression and knockdown models of ADSCs were constructed to determine the number of exosomes secreted by each group of cells as well as the number of multivesicular bodies (MVBs) and intraluminal vesicles (ILVs) within the cells. Subsequently, the binding region of the interaction between TSPAN6 and syntenin-1 was identified using the yeast two-hybrid assay, and the interaction itself was identified by immunoprecipitation. Finally, cellular and animal studies were conducted to investigate the role of each class of exosomes. Results When compared to the control group, the number of intracellular MVBs and ILVs was significantly larger, and the number of ADSCsTSPAN6+-Exos was more than three times higher. However, TSPAN6’s ability to stimulate exosome secretion was reduced as a result of syntenin-1 knockdown. Additional yeast two-hybrid assay demonstrated that the critical structures for their interaction were the N-terminal, Postsynaptic density protein 95/Discs large protein/Zonula occludens 1 (PDZ1), and PDZ2 domains of syntenin-1, and the C-terminal of TSPAN6. In animal trials, the wound healing rate was best in the ADSCsTSPAN6+-Exos group, while cellular experiments demonstrated that ADSCsTSPAN6+-Exos better enhanced the proliferation and migration of human skin fibroblasts (HSFs) and human umbilical vein endothelial cells (HUVECs). Conclusion TSPAN6 stimulates exosome secretion and formation, as well as the creation of MVBs and ILVs in ADSCs. Syntenin-1 is essential for TSPAN6’s stimulation of ADSCs-Exos secretion. Furthermore, ADSCsTSPAN6+-Exos has a greater ability to support wound healing, angiogenesis, and the proliferation and migration of a variety of cells.

Medicine (General), Biochemistry
DOAJ Open Access 2023
Unraveling the Secrets of a Double-Life Fungus by Genomics: <i>Ophiocordyceps australis</i> CCMB661 Displays Molecular Machinery for Both Parasitic and Endophytic Lifestyles

Thaís Almeida de Menezes, Flávia Figueira Aburjaile, Gabriel Quintanilha-Peixoto et al.

<i>Ophiocordyceps australis</i> (Ascomycota, Hypocreales, Ophiocordycipitaceae) is a classic entomopathogenic fungus that parasitizes ants (Hymenoptera, Ponerinae, Ponerini). Nonetheless, according to our results, this fungal species also exhibits a complete set of genes coding for plant cell wall degrading Carbohydrate-Active enZymes (CAZymes), enabling a full endophytic stage and, consequently, its dual ability to both parasitize insects and live inside plant tissue. The main objective of our study was the sequencing and full characterization of the genome of the fungal strain of <i>O. australis</i> (CCMB661) and its predicted secretome. The assembled genome had a total length of 30.31 Mb, N50 of 92.624 bp, GC content of 46.36%, and 8,043 protein-coding genes, 175 of which encoded CAZymes. In addition, the primary genes encoding proteins and critical enzymes during the infection process and those responsible for the host–pathogen interaction have been identified, including proteases (Pr1, Pr4), aminopeptidases, chitinases (Cht2), adhesins, lectins, lipases, and behavioral manipulators, such as enterotoxins, Protein Tyrosine Phosphatases (PTPs), and Glycoside Hydrolases (GHs). Our findings indicate that the presence of genes coding for Mad2 and GHs in <i>O. australis</i> may facilitate the infection process in plants, suggesting interkingdom colonization. Furthermore, our study elucidated the pathogenicity mechanisms for this <i>Ophiocordyceps</i> species, which still is scarcely studied.

Biology (General)
DOAJ Open Access 2023
The Relationship Between the Expression of CRBN in Peripheral Blood and the Severity and Prognosis of Adult Sepsis

Kuang Z, Gu Q

Zhiming Kuang,1 Qiuping Gu1,2 1Department of Critical Care Medicine, Ganzhou People’s Hospital, Ganzhou, Jiangxi Province, 341000, People’s Republic of China; 2Department of Gastroenterology, Ganzhou People’s Hospital, Ganzhou, Jiangxi Province, 341000, People’s Republic of ChinaCorrespondence: Qiuping Gu, Department of Gastroenterology, Ganzhou People’s Hospital, No. 16, Meiguan Avenue, Zhanggong District, Ganzhou City, Jiangxi Province, People’s Republic of China, Tel +86-18214932018, Email zhangdi2@mail.sdufe.edu.cnObjective: To investigate the correlation between the expression of cereblon (CRBN) protein in peripheral blood and the severity and prognosis of sepsis.Methods: A total of 130 patients with sepsis admitted to our hospital were selected as the observation subjects (sepsis group). The patients were divided into mild group, moderate group and severe group according to their conditions. The patients were divided into survival group and death group according to their living conditions within 28 days after admission. 130 health individuals were selected as the control group. The levels of CRBN mRNA, CRP and PCT in peripheral blood were detected.Results: The levels of serum CRBN mRNA, CRP, and PCT in patients with sepsis were higher than those in the control group (P< 0.05); As the condition worsens, the levels of CRBN mRNA, CRP, and PCT gradually increase, and there are statistically significant differences among patients with mild, moderate, and severe sepsis; Correlation analysis showed that the expression of CRBN mRNA in sepsis patients was positively correlated with CRP, PCT levels, APACHE II score and SOFA score (P< 0.05); the 28-day cumulative survival rate of patients with high CRBN mRNA expression was significantly lower than that of patients with low CRBN mRNA expression (P< 0.05); compared with the survival group, the levels of serum CRBN mRNA, CRP and PCT in the death group were significantly higher (P< 0.05); the AUC of death in sepsis patients diagnosed by CRBN mRNA, CRP and PCT was 0.961, the combined diagnostic efficacy was higher than that of single detection (P< 0.05).Conclusion: The expression level of CRBN in the peripheral blood of patients with sepsis is increased, which is related to the severity and prognosis of the patients. The combination of CRP and PCT has certain diagnostic value for the death of sepsis patients.Keywords: sepsis, cereblon protein, prognosis, severity

Medicine (General)
DOAJ Open Access 2023
Education Staff and Students’ Understanding and Expectations of the Role and Qualities of the Undergraduate Nursing Clinical Facilitator

Lynda Hughes, Danny Sidwell, Valda Frommolt et al.

Workplace integration of undergraduate student nurses through clinical placement remains an integral part of nurse education. The role of clinical facilitators who support this integration is complex and shaped by the expectations of various key stakeholders. These multiple expectations often resulting in the role being blurred and lacking clarity. The research aim is to identify the roles and expectations of clinical facilitators from the perspectives of academics/educators and students and to explore qualities that allow clinical facilitators to conduct their role effectively. A cross-sectional survey was utilised. Exploratory factor analysis, free text data and comparative analysis were used. Findings suggest a discordance in understanding of the clinical facilitator role by educators and students. Students tended to focus on skills and knowledge without consideration of the broader nursing profession. The clinical facilitator’s ability to role model and influence is seen as a “hidden curriculum” that students are largely unaware of. The clinical facilitator role is complex, with education critical in supporting this role and thus the success of students. Illumination of the hidden nursing curriculum would enable better understanding of the clinical facilitator role in engaging students with the varying requirements of the nursing profession.

Law in general. Comparative and uniform law. Jurisprudence, Education
DOAJ Open Access 2023
Análisis económico del control de la tensión arterial en pacientes que se realizan hemodiálisis, diálisis peritoneal cíclica ambulatoria y diálisis peritoneal automatizada

Wilmer Stalin Sanango Reinoso, Jorge Oswaldo Herrera Ordoñez , Soraya Puertas Azanza et al.

Introducción: El control de la tensión arterial (TA), es un objetivo fundamental, en los pacientes con enfermedad renal crónica estadio 5D, ya que la hipertensión y la hipotensión causan efectos adversos en la calidad de vida del paciente y predisponen al aumento del riesgo cardiovascular. El objetivo del presente estudio fue realizar un análisis económico de la prescripción de antihipertensivos en un grupo de pacientes en terapia sustitutuva de la función renal. Métodos: Se trata de un estudio transversal, realizado en el servicio de hemodiálisis del hospital “José Carrasco Arteaga”. Las variables fueron: tipo de diálisis, sexo, uso de antihipertensivos, tipo de antihipertensivos y costo. La muestra fue no probabilística. Resultados: Se analizan 174 pacientes, 73 (41.95%) en programa de hemodiálisis (HD), 80 (45.98%) en programa de diálisis peritoneal manual (DP) y 21 (12.07%) en diálisis peritoneal automatizada (DPA). Fueron 74% de hombres en HD, 39 casos (48.7%) en DP, 12 casos (57.14%) en DPA. El uso de antihipertensivos en HD fue del 84%, en DP fue del 86% y en DPA fue del 86%. El costo de antihipertensivos fue en  HD 12.5 ± 8.7 USD, en DP 15.7 ± 22.4 y en DPCA  16.4 ± 18.6 USD P>0.05. Conclusión: el uso de antipertensivos en este grupo de estudio fue en mas del 84% en las diferentes modalidades de diálisis, sin diferencia estadítica en el análisis de costo.

Medicine (General), Diseases of the genitourinary system. Urology
S2 Open Access 2022
Kampo medicines for supportive care of patients with cancer: A brief review

Y. Motoo, S. Cameron

Background Kampo medicines, which are standardized traditional Japanese herbal medicines, have been tried to support patients with cancer. Methods Randomized controlled trials on the use of Kampo medicines for cancer supportive care and the descriptions of Kampo medicines in clinical practice guidelines were reviewed. Results Kampo medicines potentially ameliorate refractory symptoms in cancer patients. For example, hochuekkito, juzentaihoto, and ninjin'yoeito seem to be efficacious for fatigue/general malaise. Potential use of rikkunshito for anorexia/cancer cachexia and goshajinkigan for peripheral neuropathy is proposed from small numbers of randomized controlled trials in addition to basic research. The number of clinical practice guidelines which contain descriptions of Kampo medicines is increasing in general, but only a few in the area of cancer supportive care. Conclusion Kampo medicines potentially play some roles in preventing or ameliorating side effects of anticancer agents. Supportive care with Kampo medicines for patients with cancer might lead to physical, mental, and nutritional improvement.

32 sitasi en Medicine
DOAJ Open Access 2021
Chemometric Analysis of Serum Magnesium Calculations Using Mg-Xylidyl Blue-I Method Based on Molar Absorptivity

Ally Kafesa, Nadira Nur Hajah Lutfi, Cep Wahyu

The concentration of magnesium is determined based on the absorbance of the Mg-Xylydil Blue-I complex solution use spectrophotometer. Based on the Lambert-Beer rule, the calculation of sample concentration is based on the formula A = Ԑ. b. C. Generally, the thickness of the cuvette (b) and the molar absorptivity (Ԑ) factor will be ignored because it is considered to have a fixed value, therefore the sample concentration is measured based on the ratio of the absorbance of the sample against the standard solution. However, the standard solution contains pure magnesium and has a different matrix than the sample matrix, so this condition can give analytical errors and lead to misinterpretation of the results. The purpose of this study was to determine the accuracy and the precision of serum magnesium calculation by the principle of the Mg- Xylydil Blue-I complex reaction based on molar absorptivity compared to the general method. This research uses comparative study design methods. The serum sample used was the patient's serum specimen who has a normal magnesium level. The results showed that the significance value of the paired t-test statistical was 0.000 (p < 0.05). The accuracy value (d%) of the calculation formula uses Ɛ is 0.00 and the precision value (CV%) is 0.53. While the accuracy value (d%) of the calculation formula without Ɛ is 0.00 and the precision value (CV%) is 0.38. Calculations based on molar absorptivity (Ɛ) can measure more significant serum magnesium than those calculated based on standard magnesium solutions.

Medicine (General)
DOAJ Open Access 2021
Prevalence of Congenital Anomalies in the Northwest of Iran

Faezeh Tarighat, Erfan Golshan, Saeed Dastgiri

Background and Objectives Every year, about three hundred thousands of infant deaths occur because of congenital anomalies. Some continue to live with various types of disabilities. Low and middle income countries have higher rate of congenital anomalies. It is estimated more than 100,000 cases of birth defcets occure annualy in Iran where 70 percent are preventable. There is no long term investigation on the epidemiology and secular trend of congenital anomalies in Iran. The aim of this study was to document the time trend and epidemiological features of congenital anomalies in the northwest of Iran using the Tabriz Registry of Congenital Anomalies (TRoCA) programme. Material and Methods A total of 297,734 births were registered in the region by TRoCA registry during the study period to estimate the occurrence of total and selected groups of congenital anomalies based on the standard coding system of the International Classification of Diseases (ICD). Total prevalence was calculated by dividing the numerator (registered cases of congenital anomalies in the TRoCA region) by the relevant denominator (total live and stillbirths in the TRoCA region) for the same period of time. Results An overall prevalence rate of 262.9 (CI95%:257.2–268.7) was estimated in the region. Anomalies of genito-urinary tract (59.2 per 10 000 births, 95% CI: 56.5–62.0), limb defects (46.3 per 10 000 births, 95% CI: 43.9.5–48.8), nervous system anomalies (39.4 per 10 000 births, 95% CI: 37.2–41.7), gastrointestinal anomalies (27.8 per 10 000 births, 95% CI: 25.9–29.7) and congenital heart diseases (37.1 per 10 000 births, 95% CI: 34.9–39.3) were accounted for 80 percent of birth defects. Total prevalence of anomalies was more than tripled in the region over the past two decades. More cases were observed in males, and those with consanguineous marriage. Conclusion The increasing trend of the occurrence of congenital anomalies indicates that appropriate care programmes and more effective prenatal screening procedures need to be implemented in the region. Extended Abstract Background and Objectives Congenital anomalies, also called birth defects, are defined as structural or functional anomalies that may be identified before or at birth, or later in life. Every year, more than three hundred thousands of infant deaths occur because of congenital anomalies. Some continue to live with various types of disabilities. Low and middle income countries have higher rate of congenital anomalies. There is no long term investigation on the epidemiology and secular trend of congenital anomalies in Iran, and various prevalence rates of congenital anomalies have been reported for different parts of the country. The aim of this study was to document the time trend and epidemiological features of congenital anomalies in the northwest of Iran between 2000 and 2020, using the Tabriz Registry of Congenital Anomalies (TRoCA) programme. Material and Methods This study was carried out on the births registered by TRoCA in the region between 2000 and 2020 to estimate the occurrence of selected groups of congenital anomalies based on the standard coding system of the International Classification of Diseases (ICD). All infants born in three main hospitals involved in the programme are routinely examined for general health status, maturity and congenital anomalies by a clinical practitioner (gynaecologist, obstetrician, neonatologist or paediatrician) and then followed up until hospital discharge. "Passive" method for data collection was used. The registrar for data documentation were midwives. A medical coder coded the defects. Congenital anomalies for the purposes of this programme were defined based on the standard coding of ICD under one of the following main headings according to the primary diagnosis of anomaly: nervous system anomalies; genito-urinary tract, and kidney; anomalies of limb; chromosomal anomalies; cleft lip with/without palate; congenital heart disease; musculoskeletal and connective tissue anomalies; digestive system anomalies; eye and ear anomalies and other defects. Total prevalence was calculated by dividing the numerator (registered cases of congenital anomalies in the TRoCA region) by the relevant denominator (total live and stillbirths in the TRoCA region) for the same period of time. TRoCA activities have been approved by the Ethics Committee of the Tabriz University of Medical Sciences. Confidentiality and privacy are strictly considered in every part of the data gathering, processing, registration, access and reports. Results A total of 297,734 births were registered in the region by TRoCA registry during the study period to estimate the occurrence of selected groups of congenital anomalies based on the standard coding system of the International Classification of Diseases (ICD). Most of the infants born with birth defects were male (61.3 percent). The majority of infants were born live (89.6 percent). Although familial marriage was not reported in 60.4 percent of the families with an affected child, first cousin marriage was observed in 12.5 percent of the cases. Main type of delivery in infants born with congenital anomalies was caesarean section delivery which included 49.4 percent of births. An overall prevalence rate of congenital anomalies was estimated as 262.9 (CI95%:257.2–268.7). Anomalies of genito-urinary tract (59.2 per 10 000 births, 95% CI: 56.5–62.0), limb defects (46.3 per 10 000 births, 95% CI: 43.9.5–48.8), nervous system anomalies (39.4 per 10 000 births, 95% CI: 37.2–41.7), gastrointestinal anomalies (27.8 per 10 000 births, 95% CI: 25.9–29.7) and congenital heart diseases (37.1 per 10 000 births, 95% CI: 34.9–39.3) were accounted for 80 percent of birth defects. The lowest prevalence rates were reported for musculoskeletal and connective tissue, cleft lip with/without palate, chromosomal, eye and ear anomalies all of which collectively accounted for less than 20 per 10 000 births. Total prevalence of anomalies was more than tripled in the region over the past two decades. With the control of infectious diseases and malnutrition, congenital anomalies are now making a proportionally greater contribution to ill health in childhood in many countries. According to the findings if this study, the prevalence and occurrence pattern of birth defects in a long period of time may be useful in identifying clues to the etiology of birth defects. The results may prove useful in genetic consultation, and in planning and evaluating the strategies for primary prevention of congenital anomalies, particularly in high-risk populations. Practical Implications of Research As a small registry of congenital anomalies in a developing country, our experiences might be of interest and useful to medical practitioners, policymakers of birth defects control programs, and those willing to set up a monitoring system of congenital anomalies in similar areas. Ethical Considerations This study was approved by the Ethics Committee of Tabriz University of Medical Science (IR.TBZMED.REC.1399.525). Confidentiality and privacy were observed at every stage of the program, including data gathering, data access, data analysis and reporting. Conflict of Interest Authors declare no conflict of interest. Aknowledgment The authors wish to thank the Iranian Ministry of Health and Medical Education, Tabriz University of Medical Science, and all those financially supporting the study, participating at the program, including parents and children (thesis no. 65711).

Medicine (General)
DOAJ Open Access 2020
Dispersal and genetic structure in a tropical small mammal, the Bornean tree shrew (Tupaia longipes), in a fragmented landscape along the Kinabatangan River, Sabah, Malaysia

Jennifer Brunke, Isa-Rita M. Russo, Pablo Orozco-terWengel et al.

Abstract Background Constraints in migratory capabilities, such as the disruption of gene flow and genetic connectivity caused by habitat fragmentation, are known to affect genetic diversity and the long-term persistence of populations. Although negative population trends due to ongoing forest loss are widespread, the consequence of habitat fragmentation on genetic diversity, gene flow and genetic structure has rarely been investigated in Bornean small mammals. To fill this gap in knowledge, we used nuclear and mitochondrial DNA markers to assess genetic diversity, gene flow and the genetic structure in the Bornean tree shrew, Tupaia longipes, that inhabits forest fragments of the Lower Kinabatangan Wildlife Sanctuary, Sabah. Furthermore, we used these markers to assess dispersal regimes in male and female T. longipes. Results In addition to the Kinabatangan River, a known barrier for dispersal in tree shrews, the heterogeneous landscape along the riverbanks affected the genetic structure in this species. Specifically, while in larger connected forest fragments along the northern riverbank genetic connectivity was relatively undisturbed, patterns of genetic differentiation and the distribution of mitochondrial haplotypes in a local scale indicated reduced migration on the strongly fragmented southern riverside. Especially, oil palm plantations seem to negatively affect dispersal in T. longipes. Clear sex-biased dispersal was not detected based on relatedness, assignment tests, and haplotype diversity. Conclusion This study revealed the importance of landscape connectivity to maintain migration and gene flow between fragmented populations, and to ensure the long-term persistence of species in anthropogenically disturbed landscapes.

S2 Open Access 2016
Impact of toxic heavy metals and pesticide residues in herbal products

Nema S Shaban, Khaled Abdou, N. Hassan

Abstract Medicinal plants have a long history of use in therapy throughout the world and still make an important part of traditional medicine. The World Health Organization (WHO) estimates that 65%–80% of the world's populations depend on the herbal products as their primary form of health care. This review is conducted to provide a general idea about chemical contaminants such as heavy metals and pesticide residues as major common contaminants of the herbal medicine, which impose serious health risks to human health. Additionally, we aim to provide different analytical methods for analysis of heavy metals and pesticide residues in the herbal medicine.

129 sitasi en Medicine

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