Detection of Novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele

2021 ◽  
Vol 15 (8) ◽  
pp. 1938-1941
Author(s):  
Urooj Fatima ◽  
Syed Meesam Iftikhar ◽  
Sabahat Gul ◽  
Farrukh Mustafa Memon
Keyword(s):  
Folic Acid ◽  
Genetic Association ◽  
Novel Mutation ◽  
Medical Center ◽  
Folic Acid Deficiency ◽  
Lumbar Region ◽  
Cross Sectional ◽  
Rare Mutation ◽  
Congenital Birth Defect ◽  
One Year

Aim: To detect the novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele. Methodology: The study design was cross sectional. It comprises of sixty individuals, of them fifty were diagnosed cases of myelomeningocele and ten were healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center. The study was carried out in Dow Diagnostic and Research Laboratory (D.D.R.L.). Most of the patients were less than one year of age. The cases were evaluated for various other parameters like site and size of cyst and associated features like presence of hydrocephalus in the individuals. Since folic acid deficiency is the key component in the causation of the disease so mothers were also asked about the consumption of folic acid. Blood was drawn from patients after a written permission from the parents of the concerned patient. It was followed by the conduction of PCR to seek for any mutation in VANGL1 gene. Results: We found a rare mutation in VANGL1 gene revealing substitution of valine to serine at position 239 i.e. V239S. Hydrocephalus being the associated anomaly was present in 32% of the patients. Most of the affected individuals were males. 98% mothers of the sufferers did not take folic acid during pregnancy. In most of the patients, lump was present on the lumbar region. Conclusion: Myelomeningocele is a congenital birth defect with lifelong complications. Its prevalence can be decreased by taking certain measures. Periconceptional intake of folic acid has been established to lessen the risk of the disease. We identified a rare mutation in VANGL1 gene that may result in the causation of myelomeningocele. Keywords: Neural tube defects, mutation, myelomeningocele.

Cervicofacial Necrotizing Fasciitis and Its Relationship with Aeromona Hydrophila

2020 ◽  
Author(s):  
Juárez-Rebollar AG
Keyword(s):  
Necrotizing Fasciitis ◽  
Surgical Management ◽  
Medical Center ◽  
Maxillofacial Surgery ◽  
Blood Cultures ◽  
Contaminated Water ◽  
Rapid Progression ◽  
Tissue Destruction ◽  
Cross Sectional ◽  
One Year

Introduction: Necrotizing fasciitis is a severe polymicrobial infection with rapid progression and significant tissue destruction, which requires immediate antimicrobial and surgical management; the frequent location is in the extremities (pelvic and thoracic), genitals and thorax, its appearance being rare in the cervicofacial region, it is very rarely associated with causal agents such as Aeromonahydrophila, however, the presence of said bacillus in contaminated water can manifest as Fasciitis Cervicofacial necrotizing agent (CNF). Material and Method: A retrospective, descriptive, cross-sectional, observational study was carried out in Maxillofacial Surgery at the “La Raza” Medical Center, for one year. All patients with a diagnosis of Necrotizing Cervicofacial Fasciitis (CNF). For one year who had cultures and blood cultures, with Aeromonahydrophila, who had been cared for in the Maxillofacial Surgery service from October 1, 2013, to October 1, 2014, were included. Discussion: Giant oral floor cysts located under the mylohyoid muscle are usually removed extra orally. We report the case of a large dermoid cyst of the floor of the mouth, with extension at the base of the tongue, removed intraorally. Results: A sample of 7 patients with a diagnosis of Necrotizing Cervicofacial Fasciitis was obtained; dental origin, of which 3 were women and 4 men; the mean age was 66.7 years; A correlation was made with respect to comorbidities, the management was given by the Maxillofacial Surgery service of the “La Raza” Medical Center was surgical and clinical, with support from the central laboratory of the “Dr. Antonio Fraga Mouret ”and the central epidemiology laboratory of the same hospital, blood cultures and bacterial tissue culture (biopsy) were performed, respectively. The taking of cultures was proportional to the number of surgical events, only 3 patients of which their blood cultures reported the development, two of them presented Gram (+) and Gram (-) and the third Gram (+) and Facultative aerobes. From the tissue cultures, the biota reported was: Candida Albicans; Candida Krusei, Morganella morganii, Coryneform bacilli, Enterobacter aerogenes, Trichosporonasahii, Pseudomona aeruginosa and only one developed AeromonaHydrophila. Antibiotic was administered based on the antibiogram obtained individually with specificity for each case as reported in the cultures. Discussion and Conclusion: CNF is an entity rarely associated with Aeromonahydrophila, it is common to find another type of microbiota in this entity, however, it should be known that this A.hydrophila bacillus is frequently isolated in contaminated water and the patient can acquire it by performing any daily activity, more if you have any injury or previous immunocompromise. The importance of medical-surgical management will determine the prognosis of the patient, the correct extension of debridement and resection will allow delimiting the CNF and the multidisciplinary management together will reduce complications (septic shock, multiple organ failure, death) if it is carried out in a timely manner.

scholarly journals AWARENESS OF FOLIC ACID USE AND ITS EFFECTS AMONG MEDICAL STUDENTS IN UKRAINE

2021 ◽  
Vol 74 (9) ◽  
pp. 2033-2038
Author(s):  
Kateryna Hlushko ◽  
Oksana Boyarchuk ◽  
Maria Kinash ◽  
Emillia Burbela ◽  
Yana Rohalska ◽  
...  
Keyword(s):  
Folic Acid ◽  
Medical Students ◽  
Folic Acid Supplementation ◽  
Folic Acid Deficiency ◽  
General Knowledge ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Acid Deficiency ◽  
The One ◽  
High Level

The aim: To evaluate the awareness of folic acid, its use and effects, general knowledge about neural tube defects among medical students in Ukraine. Materials and methods: This cross-sectional survey was conducted by questioning 114 fourth and fifth years’ students of the Faculty of Medicine. The questionnaire contained questions about folic acid, its dietary sources, effects and periconceptional uses; spina bifida and its main symptoms. Results: Overall, 96.5% of students knew that folic acid was a vitamin and 95.6% were aware of the one natural product which had a high folate level. However, awareness of its amount in different products was insufficient. Overall, 86.8% of surveyed knew that folic acid deficiency during pregnancy caused the congenital malformations. The knowledge of the synthetic folic acid supplementation before and during pregnancy was low (67.5% and 53.5% respectively). Only 10 % of women among medical students consumed folic acid regularly. Conclusions: Despite the high level of general knowledge about folic acid and its effects among medical students in Ukraine, there is a poor awareness of the pre-conception administration of folic acid, and the number of people who regularly take folic acid among the respondents was very low.

scholarly journals The Knowledge Relationship between Mothers who have Children Aged 2-5 years about Anemia toward Stunting Incidence

2021 ◽  
Vol 11 (4) ◽  
pp. 170-179
Author(s):  
Vidi Posdo Simarmata ◽  
Wiradi Suryanegara
Keyword(s):  
Folic Acid ◽  
Red Blood Cells ◽  
Blood Cells ◽  
P Value ◽  
Folic Acid Deficiency ◽  
Cross Sectional ◽  
Study Results ◽  
Acid Deficiency ◽  
Analytical Research ◽  
Iron And Folic Acid

Anaemia is a condition in which there is a decrease in red blood cells or haemoglobin levels in red blood cells caused by several factors such as chronic diseases, iron and folic acid deficiency, or chronic bleeding. Anaemia is one of the world’s nutritional problems, especially in developing countries, including Indonesia. According to RISKESDAS 2013, the number of stunting children in Indonesia had reached 37% (estimated 9 million toddlers) One of the factors that can cause stunting is anaemia during pregnancy. This research aims to determine whether there is a correlation between anaemia-related knowledge of mothers who have children aged 2-5 years old with the incidence of stunting. The research used in the study used analytical research with a cross-sectional method. The data was collected using questionnaires distributed to mothers who have children at the age of 2-5 years in Mekarbakti Village, Sumedang District, West Java. The study results showed that the incidence of stunting is higher in the group of respondents who have better knowledge of anaemia. The conclusion is that there is no correlation between the level of anaemia-related knowledge of mothers who have children aged 2-5 years with the incidence of stunting in Mekarbakti Village (P Value> 0.05). Keywords: Anemia, Stunting, Toddler

Association of Location of Cyst with the family history and Mutated Gene among patients of Myelomeningocele

2021 ◽  
Vol 15 (10) ◽  
pp. 2543-2545
Author(s):  
Urooj Fatima ◽  
Sabahat Gul ◽  
Imran Ishaq ◽  
Sahrish Mukhtar ◽  
Iram Quddus ◽  
...  
Keyword(s):  
Family History ◽  
Medical Center ◽  
Positive Family History ◽  
Pcr Amplification ◽  
Cross Sectional Study ◽  
Lumbar Region ◽  
Cross Sectional ◽  
The Family ◽  
Strong Relation ◽  
History Of

Aim: To determine association of location of cyst with the family history and mutated gene among patients of myelomeningocele. Methodology: This cross sectional study consists of fifty diagnosed cases of myelomeningocele and ten healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center (JPMC) for a period of six months. The research was conducted in Dow Diagnostic and Research Laboratory (DDRL) (DUHS). Majority of the patients included in the study were neonates. Patients were examined for the presence and site of the cyst. Family history of the patients was also recorded. After taken informed consent from the patient’s attendants, blood was drawn by a trained phlebotomist. DNA was extracted from whole blood followed by PCR amplification of VANGL1 gene. Results: We found that among fifty individuals five patients showed mutation in VANGL1 gene. Mutation was absent entirely from the controls. The cyst was mostly (92%) present in the lumbar region. Only 2% patients showed positive family history. The association between site of the cyst and family history was statistically significant. Conclusion: It is concluded that all mutation of VANGL1 gene was present at lumbar region.There was a strong relation between location of cyst and family history. Keywords: Myelomeningocele, cyst, VANGL1 gene, PCR, mutation.

scholarly journals Prevalence of Folic Acid And Vitamin B12 Deficiency in Anemic Adolescents

2020 ◽  
Vol 11 (3) ◽  
pp. 4630-4635
Author(s):  
Mayank Jain ◽  
Girish Ganesh Joag ◽  
Kshirsagar V Y
Keyword(s):  
Folic Acid ◽  
Vitamin B12 ◽  
Vitamin B12 Deficiency ◽  
Health Concern ◽  
Folic Acid Deficiency ◽  
Cross Sectional ◽  
Female Ratio ◽  
Deficiency Anaemia ◽  
Acid Deficiency ◽  
B12 Deficiency

Adolescents may enjoy nourishment trends, macrobiotic weight control plans and semi-starvation regimens in calories, nutrients and minerals. Protein need in a juvenile for every unit body weight is higher than that of grown-up; however, not exactly a quickly developing newborn child. Adolescence has higher nutrient and mineral needs contrasted and individuals all things considered other life stages. A community-based cross-sectional study of 200 school going anaemic adolescents of age group 10 – 19 years. A predesigned semi-organized survey was readied dependent on the audit of writing on Adolescent iron deficiency. The study included 200 anaemic adolescents belonging to two schools, 89 were males, and 111 were females. Male: female ratio was 1.25:1. Among a total of 200 participants, 122 anaemic adolescents belonged to early adolescence. The mean age of anaemic adolescent participants of this study was 13.19 years with a standard deviation of 1.23. among the participants, 137 anaemic adolescents took a vegetarian diet, and 63 anaemic adolescents took a mixed diet. There were three participants underweight according to BMI classification, and 190 had normal range of BMI, 132 adolescents had moderate anaemia (Hb- 8.0 to 10.9 ). Majority of 66.5%(133/200) had Vitamin B12 deficiency anaemia, 72.5%(145/200) had folic acid deficiency anaemia, and 58.5% (117/200) had combined Vitamin B12 and folic acid deficiency anaemia. Prevalence of anaemia in adolescent is a significant public health concern. Supplementation with not only iron and folic acid but also Vitamin B12 may be need of the day. Besides supplementation adequate education regarding quality food, cooking practices and health education is also necessary to be emphasized in adolescents.

Nurse’s knowledge and Awareness Regarding Cervical Cancer and its Prevention in Different Hospitals of Quetta, Pakistan

2017 ◽  
Vol 4 (1) ◽  
pp. 436-441
Author(s):  
Saba Haider ◽  
Noman Ul Haq ◽  
Sohail Riaz ◽  
Aqeel Nasim ◽  
Muhammad Saood ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Family History ◽  
Sampling Technique ◽  
Knowledge Score ◽  
Validity And Reliability ◽  
Contributing Factors ◽  
Cross Sectional ◽  
Adequate Knowledge ◽  
Current Area ◽  
One Year

Objective: This study aimed to assess the knowledge and awareness regarding cervical cancer and its prevention among nurses working in different hospitals of Quetta, Pakistan. Methodology: The cross sectional, descriptive study was conducted by using structured questionnaire in different hospitals of Quetta from January to September 2016. Convenient sampling technique was applied by targeting all the nurses working in different hospitals of Quetta city. Study questionnaire was developed and tested for validity and reliability. Descriptive and inferential statistics (Mann Whitney U test and Kruskal Wallis tests, p<0.05) were used to assess the significance among study variables and were performed by using IBM SPSS v.20. Results: Out of 415 distributed questionnaires 324 were returned (response rate of 78%). The mean Age of respondents was 28.18 ±9.5 years. Majority (n=127, 43.3%) of participants were interns and had no or less than one year of experience (n=128, 43.7%) with negative family history of any cancer (n=275, 93.9%). Mean knowledge score was 18.52±4.84with majority (n=258, 88.1%) had adequate knowledge regarding cervical cancer. Respondent sage, current area of practice, qualification, Institute of degree and past family history were contributing factors (p > 0.05) in adequate knowledge in this study. The results also reviled that not only 68.3% (n=200) and 65.5% (n=192) respondents knew that cervical cancer is vaccine preventable and availability of the vaccine for it. Conclusions: Nurses working in different hospitals of Quetta city had better understanding of the disease cervical cancer and its prevention. Yet many of the respondent are not aware of it vaccine and its availability.

Computed Tomography Angiography (CTA) Evaluation of Spontaneous Subarachnoid Hemorrhage

2020 ◽  
Vol 6 (2) ◽  
pp. 78-81
Author(s):  
Md Tauhidul Islam Chowdhury ◽  
Mohammad Shah Jahirul Hoque Chowdhury ◽  
Mohammad Sadekur Rahman Sarkar ◽  
KM Ahasan Ahmed ◽  
Md Nazmul Kabir ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Subarachnoid Hemorrhage ◽  
Computed Tomography Angiography ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Multiple Aneurysm ◽  
Traumatic Subarachnoid Hemorrhage ◽  
One Year ◽  
Spontaneous Subarachnoid Hemorrhage

Background: In evaluation of non-traumatic subarachnoid hemorrhage CT angiography (CTA) has 97-98% sensitivity and near 100% specificity. Objective: This study was conducted to evaluate the CTA findings of CT positive non traumatic subarachnoid hemorrhage. Methodology: This is an observational cross sectional study performed in Neurology department of National Institute of Neurosciences and Hospital, Dhaka over one year period (January 2019 to December 2019). Total 87 CT positive subarachnoid hemorrhage cases were purposively included in this study. All CT positive patients underwent CTA of Cerebral vessels for further evaluation. The angiography were evaluated by competent neuro-radiologists blinded about the study. Result: Among 87 patients, 40.2% were male and 59.8% were female. The average age was 53.33±11.1 years. Among the studied patient the source of bleeding was found 78.16% aneurysmal and 21.84% non-aneurysmal. 85.30% patients had single aneurysm and 14.70% had multiple aneurysm. The highest number of patient had Acom aneurysm (41.17%) followed by MCA (22.05%), ICA (13.23%), ACA (7.35%) and vertebral artery (1.14%) in order of frequency. Among the multiple aneurysm group most of the patients had combination of Acom, MCA and ICA aneurysm. Conclusion: From this study, we can conclude that CTA can be used as the primary diagnostic tool in evaluation of spontaneous SAH. Journal of National Institute of Neurosciences Bangladesh, 2020;6(2): 78-81

Role of Fibrinolytic Therapy in Empyema Thoracis – A Hospital Based one year Cross Sectional Study

2012 ◽  
Vol 2 (2) ◽  
pp. 345-350
Author(s):  
Dr. Girish.L Dandagi ◽  
◽  
Venkat kalyana kumar. P ◽  
Dr. Dr.Isaac Mathew ◽  
Dr. Dr.G S Gaude Dr. Dr.G S Gaude
Keyword(s):  
Cross Sectional Study ◽  
Fibrinolytic Therapy ◽  
Empyema Thoracis ◽  
Sectional Study ◽  
Cross Sectional ◽  
One Year

Cut off value of plasma 25-hydroxyvitamin D concentration for predicting metabolic syndrome

2019 ◽  
pp. 68-73
Author(s):  
Trong Nghia Nguyen ◽  
Thi Nhan Nguyen ◽  
Thi Dua Dao
Keyword(s):  
Metabolic Syndrome ◽  
Medical Center ◽  
Cross Sectional Study ◽  
Control Group ◽  
Cross Sectional ◽  
Hydroxyvitamin D ◽  
The Metabolic Syndrome ◽  
25 Hydroxyvitamin D ◽  
Key Words Metabolic Syndrome ◽  
And Control

Background: The metabolic syndrome is a constellation of cardiometabolic risk factors that tend to cluster together in affected individuals more often than predicted by chance. The presence of the metabolic syndrome substantially increases the risk of developing type 2 diabetes and cardiovascular disease, and is associated with a range of adverse clinical outcomes, many of which are closely associated with aging. Current estimates suggest that approximately 20 - 25% of the world’s population is affected by the metabolic syndrome. The prevalence of the metabolic syndrome rises with age and more than 45% of people aged over 60 years have the metabolic syndrome. Recent studies show that low vitamin D status is very common in the world and this is a risk factor of metabolic syndrome. Objective: (1) Plasma 25-hydroxyvitamin D concentration in subjects with metabolic syndrome. (2) Cut off value of plasma 25-hydroxyvitamin D concentration for predicting metabolic syndrome. Material and method: A cross-sectional study with control group on 318 adult subjects for health examinations at International Medical Center at Hue Central Hospital, including 139 subjects with metabolic syndrome and control group of 179 healthy subjects. Metabolic syndrome was defined according to the IDF, NHLBI, AHA, WHF, IAS, IASO (2009). Plasma hydroxyvitamin D concentration was measured using chemiluminescent microparticle immunoassay. Reciever operating characteristic (ROC) curve were generated to assess sensitivity and specificity for different cut off value of 25-hydroxyvitamin D concentration for predicting metabolic syndrome. Results: Plasma 25-hydroxyvitamin D concentration in subjects with metabolic syndrome was 26.4 ng/ml, incidence of plasma 25-hydroxyvitamin D deficiency (59.7%) was significantly higher than in control group (23.5%) (p < 0.001). The optimal cut off point for 25-OH-D concentration for predictor of metabolic syndrome as 26.4 ng/ml (AUC=0.657, sensitivity=53.4%, specificity=71.6%). Conclusion: In 139 subjects with metabolic syndrome, the plasma 25-hydroxyvitamin D concentration was 26.4 ng/ml and the incidence of 25-hydroxyvitamin D deficiency in the metabolic syndrome group was 59.7%. The optimal cut off point for plasma 25-hydroxyvitamin D concentration for predictor of metabolic syndrome as 26.4 ng/ml. Key words: Metabolic syndrome, 25-hydroxyvitamin D

HUBUNGAN GAYA KEPEMIMPINAN KEPALA RUANGAN DENGAN MOTIVASI KERJA PERAWAT DI RUANG RAWAT INAP RUMAH SAKIT KUNINGAN MEDICAL CENTER

2020 ◽  
Vol 1 (1) ◽  
pp. 28
Author(s):  
Nina Karlina ◽  
Aditiya Puspanegara ◽  
Moch Didik Nugraha
Keyword(s):  
Medical Center ◽  
Cross Sectional ◽  
Purposive Sampling

Kepemimpinan merupakan cara seorang pemimpin dalam mempengaruhi perilaku bawahannya agar mau bekerja sama dan bekerja secara produktif  dei tercapainya tujuan dari organisasi. Gaya kepemimpinan suatu seni dan proses untuk mempengaruhi dan mengarahkan orang lan agar mereka memiliki motivasi untuk mencpai tujuan yang hendak di capai dalam situasi tertentu. Tujuan penelitian ini mengetahui hubungan gaya kepemimpinan kepala ruangan dengan motivasi kerja perawat di ruang rawat inap rumah sakit kuningan medical center. Rancangan penelitian ini adalah cross-sectional menggunakan pendekatan deskriptif analitik. Populasi penelitian ini adalah perawat pelaksana di Rumah Sakit Medical Center sebanyak 57 orang dengan teknik pengambilan sampel purposive sampling. Analisis data meliputi analisis univariat dan bivariat dengan koefisien korelasi rank spearman. Analisis univariat menunjukan bahwa sebagian besar perawat berpendapat tiga tipe gaya kepemimpinan kepala ruangan model demokratis sebanyak 51 responden (89,5%) dan memiliki motivasi sedang sebanyak 20 responden (39,2%). Analisis bivariat dengan nilai kolerasi rank spearman sebesar ρ = 0,284, yang berarti tidak ada hubungan antara gaya kepemimpinan kepala ruangan dengan motivasi kerja. Hasil penelitian disimpulkan bahwa gaya kepemimpinan demokratis, motivasi kerja tinggi, manajemen rumah sakit baik. Dengan penelitian ini disarankan kepala ruangan memenuhi faktor-faktor pendukung motivasi kerja perawat untuk mempertahankan ataupun meningkatkan motivasi kerja perawat serta kepala ruangan mampu meningkatkan gaya kepemimpinan demokratis yang sesuai dengan prosedur pelayanan sehingga mampu mendorong perawat melakukan suatu kegiatan atau pekerjaan dengan baik.

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