scholarly journals Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

2021 ◽  
Vol 7 (6) ◽  
pp. e639
Author(s):  
Chul-Hoo Kang ◽  
Young Mee Kim ◽  
Yang-Ji Kim ◽  
Su-Jeong Hong ◽  
Do Yoon Kim ◽  
...  

ObjectiveThis study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans.MethodsIn this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic NOTCH3 variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys) for 1,000 individuals on Jeju Island, where the largest number of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported in Korea.ResultsThe pathogenic NOTCH3 variant (p.Arg544Cys) was found in 0.12% of sequences in the KRGDB, and 3 pathogenic variants (p.Arg75Pro, p.Arg182Cys, and p.Arg544Cys) were present in 0.44% of the Korea1K database. Of the 1,000 individuals on Jeju Island, we found 2 cysteine-altering NOTCH3 variants (p.Arg544Cys variant in 9 and p.Arg578Cys in 1 individual) in 1.00% of the participants (95% confidence interval: 0.48%–1.83%). The presence of cysteine-altering NOTCH3 variants was significantly associated with a history of stroke (p < 0.001).DiscussionPathogenic NOTCH3 variants are frequently found in the general Korean population. Such a high prevalence of pathogenic variants could threaten the brain health of tens of thousands to hundreds of thousands of older adults in Korea.

2020 ◽  
Vol 2 (4) ◽  
Author(s):  
Shweta R Singh ◽  
Bunsoth Mao ◽  
Konstantin Evdokimov ◽  
Pisey Tan ◽  
Phana Leab ◽  
...  

Abstract Background The rising incidence of infections caused by MDR organisms (MDROs) poses a significant public health threat. However, little has been reported regarding community MDRO carriage in low- and middle-income countries. Methods We conducted a cross-sectional study in Siem Reap, Cambodia comparing hospital-associated households, in which an index child (age: 2–14 years) had been hospitalized for at least 48 h in the preceding 2–4 weeks, with matched community households on the same street, in which no other child had a recent history of hospitalization. Participants were interviewed using a survey questionnaire and tested for carriage of MRSA, ESBL-producing Enterobacterales (ESBL-E) and carbapenemase-producing Enterobacterales (CPE) by culture followed by antibiotic susceptibility testing. We used logistic regression analysis to analyse associations between collected variables and MDRO carriage. Results Forty-two pairs of households including 376 participants with 376 nasal swabs and 290 stool specimens were included in final analysis. MRSA was isolated from 26 specimens (6.9%). ESBL-producing Escherichia coli was detected in 269 specimens (92.8%) whereas ESBL-producing Klebsiella pneumoniae was isolated from 128 specimens (44.1%), of which 123 (42.4%) were co-colonized with ESBL-producing E. coli. Six (2.1%) specimens tested positive for CPE (4 E. coli and 2 K. pneumoniae). The prevalence ratios for MRSA, ESBL-producing E. coli and ESBL-producing K. pneumoniae carriage did not differ significantly in hospital-associated households and hospitalized children compared with their counterparts. Conclusions The high prevalence of ESBL-E across both household types suggests that MDRO reservoirs are common in the community. Ongoing genomic analyses will help to understand the epidemiology and course of MDRO spread.


2020 ◽  
Vol 24 (2) ◽  
pp. 149-155
Author(s):  
Hamzullah Khan ◽  
Mohammad Zahid Khan ◽  
Mian Mohammad Naveed

Objective: To determine the frequency of COVID-19 and characteristics of patients presenting to the COVID-19 clinic at Qazi Hussain Ahmed Medical Complex (QHAMC) Nowshera. Methodology: This cross-sectional study was conducted from 21st Feb 2019 to April 8, 2020, in QHAMC Nowshera. Relevant information was collected on a pre-designed Performa prepared following the objectives of the study. Results: Out of 220 patients, 165(75%) were males, and 55(25%) females. 96(43.6%) of the patients were in the age range 18-30 years followed by 52(23.6%) in age range 31-45years and 17(7.7%) with age>60 years etc. Out of total the nasopharyngeal swabs of 26(11.6%) strong suspects were sent for PCR testing. 208(94.5%) were sent home while 12(5.5%) were advised quarantine. Forty-seven (21.4%) had a travel history to an epidemic area in the last 14 days. 51(23.2%) had a positive history of contact. Eighty-five (38.6%) had a fever and sore throat followed by 27(12.3%) with (fever & cough), 24(10.9%) with (cough and shortness of breath/dyspnea) and 14(6.4%) with a simple flue, etc. Out of 26 cases, 6(2.7%) were COVID-19 Positive, 12(5.5%) were negative and results of 8(3.6%) were still awaited. The PCR repeated the test for confirmed cases showed;  4(1.8%) negative, one died and one was refractory positive.  A positive correlation (p=0.03, r=0.4) of an increase in age with the severity of the disease/outcome was recorded. Conclusion: The frequency of infectivity with COVID-19 was 2.6%. A higher number of patients with mild symptoms attend the COVID clinic. The rate of infection and mortality was higher in age> 60 years.


2015 ◽  
Vol 5 (1) ◽  
pp. 11-17
Author(s):  
L Subedi ◽  
R B Sah

Retirement, change in housing, illness or death of spouse greatly affect the physical and mental well-being of the geriatric person. This study aims to find out the health status of geriatric age group in chitwan district of Nepal. A cross sectional study was carried out among 300 geriatric people where 15.7% of the geriatric were living alone, 50.3 % and 39.7% of geriatrics gave history of regular use of tobacco and alcohol respectively. Co-morbidities were found in 63% of geriatrics who suffered from 2 or more diseases. In Total 44% were found to have Ophthalmic problems, 23% were found to have ENT problems, 5.33% were found to mental disorders, 33% were found to have CVS problems, 43% were found to have GI problems, 15.67 % were found to have Metabolic disorder. The study highlighted a high prevalence of morbidity and health related problems in geriatric age groups.DOI: http://dx.doi.org/10.3126/jcmc.v5i1.12560


2019 ◽  
Vol 02 (01) ◽  
pp. 16-20
Author(s):  
M. B. Bharathi ◽  
Thanzeem Unisa ◽  
Swathi Chandresh ◽  
Venkatesh C. R. ◽  
Harsha S.

Abstract Introduction Bell's palsy (BP) is the common cause of facial palsy. This study aims to report and analyze the age, sex distribution, symptomatology, site of lesion, and prognosis in 101 patients with (BP). Materials and Methods This is a cross-sectional study conducted at tertiary referral center, JSS Hospital, Mysuru. All patients consenting to participate in this study, of all ages, of either sex, both outpatients and inpatients with a diagnosis of BP during this study period were included. Results Of the 101 patients analyzed, maximum cases (25.7%) were in third decade of age; 55.4% were males, and both right and left sides of the face were equally involved. Maximum number of patients (50.5%) had a history of postaural pain at presentation Topodiagnostic tests showed majority of BP cases involving geniculate or suprageniculate regions (67.3%) in our study. 20.8% had lesion above the nerve to stapedius, and 11.9% had lesion below the nerve to stapedius. Electrodiagnostic test—electroneuromyography (ENMG)—was abnormal in 57 (67.1%) individuals at day 4. 50.4% of patients had a House-Brackmann (HB) facial nerve grade IV at presentation. 90% of the BP group in our study recovered normal to near-normal facial nerve function by the end of 28 days’ time. Conclusion Each case of BP should be evaluated with thorough clinical examination, topodiagnostic tests, and electrodiagnostic tests. Appropriate management will help in almost full recovery of disease.


2009 ◽  
Vol 22 (1) ◽  
pp. 110-117 ◽  
Author(s):  
Abul Hasnat Milton ◽  
Wayne Smith ◽  
Bayzidur Rahman ◽  
Bashir Ahmed ◽  
S.M. Shahidullah ◽  
...  

Malnutrition among the rural Bangladeshi women of reproductive age is still very high. This high prevalence attributes to a range of adverse health consequences on the women and their offspring. A total of 2341 women aged between 20 and 45 years residing in the study area were interviewed in this cross-sectional study. Information on socioeconomic variables, nutritional status, and pregnancy-related history was obtained using interviewer administered questionnaire. A total of 34% of the reproductive aged rural women suffer from malnutrition. A multivariate analysis shows association between malnutrition and monthly household income, history of taking oral contraceptive, current pregnancy status, and history of breastfeeding. The final regression model shows a statistically significant decreasing trend in malnutrition status with increasing income ( P for trend <.001). The economic and health consequences of malnutrition in this group of women are enormous. National nutritional program should target this women group for any intervention with a special priority.


2019 ◽  
Vol 9 ◽  
pp. 173
Author(s):  
Tatiana Frederico de Almeida ◽  
Carolina Silva Cervino Garcia

Introdução: O traumatismo dento-alveolar em vários locais do mundo tem alta prevalência na dentição decídua e permanente de crianças e jovens, com cerca de um terço destes sendo afetados. Objetivo: descrever a prevalência e gravidade de traumatismo dento-alveolar em crianças e jovens de 03 a 18 anos, assim como fatores associados. Metodologia: Foi realizado estudo transversal no Centro de Integração Familiar em Salvador, Bahia, que atende cerca de 400 crianças e jovens. Foram registradas informações sociodemográficas e história do trauma. O estudo foi realizado com uma amostra de 357 escolares. Resultados: A amostra tinha idade média de 8,3 anos. A prevalência do traumatismo foi de 15,69%, sendo a fratura de esmalte o agravo mais frequentemente encontrado, e sua etiologia principal a queda. Conclusão: O trauma acometeu o sexo feminino, as crianças mais velhas, de cor branca/outras, com overjet acentuado e com mais de dois irmãos. É necessária maior divulgação de informações de prevenção deste problema de saúde bucal.AbstractIntroduction: Dento-alveolar trauma in many places around the world has a high prevalence in deciduous and permanent dentition of children and young people, with about one third of them being affected. Objective: To describe the prevalence and severity of dentoalveolar trauma in children and young people from 03 to 18 years old, as well as associated factors. Methodology: A cross-sectional study was conducted at the Family Integration Center in Salvador, Bahia, which serves about 400 children and young people. Sociodemographic information and history of trauma were recorded. The study was conducted with a sample of 357 students. Results: The sample had a mean age of 8.3 years. The prevalence of trauma was 15.69%, with the enamel fracture being the most frequently encountered injury, and its main etiology being the fall. Conclusion: The trauma affected females, older children, white/others people, with severe overjet and with more than two siblings. More information on prevention of this oral health problem is needed.


1994 ◽  
Vol 5 (2) ◽  
pp. 117-123 ◽  
Author(s):  
H A Cossa ◽  
S Gloyd ◽  
R G Vaz ◽  
E Folgosa ◽  
E Simbine ◽  
...  

A cross-sectional study was conducted among displaced pregnant women in Mozambique to determine the prevalence and correlates of HIV infection and syphilis. Between September 1992 and February 1993, 1728 consecutive antenatal attendees of 14 rural clinics in Zambézia were interviewed, examined, and tested for HIV and syphilis antibodies. The seroprevalence of syphilis and HIV were 12.2% and 2.9%, respectively. Reported sexual abuse was frequent (8.4%) but sex for money was uncommon. A positive MHA-TP result was significantly associated with unmarried status, history of past STD, HIV infection, and current genital ulcers, vaginal discharge, or genital warts. Significant correlates of HIV seropositivity included anal intercourse, history of past STD, and syphilis. In summary, displaced pregnant women had a high prevalence of syphilis but a relatively low HIV seroprevalence suggesting recent introduction of HIV infection in this area or slow spread of the epidemic. A syphilils screening and treatment programme is warranted to prevent perinatal transmission and to reduce the incidence of chancres as a cofactor for HIV transmission.


2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Alessandra Quintino-Moro ◽  
Denise E. Zantut-Wittmann ◽  
Marcos Tambascia ◽  
Helymar da Costa Machado ◽  
Arlete Fernandes

Objectives. To evaluate the prevalence of infertility in women with Graves’ disease (GD) or Hashimoto’s thyroiditis (HT) and associated factors.Material and Methods. This cross-sectional study was conducted at the Endocrinology Clinic for Thyroid Autoimmune Diseases, with 193 women aged 18–50 years with GD and 66 women aged 18–60 years with HT. The women were interviewed to obtain data on their gynecological and obstetric history and family history of autoimmune diseases. Their medical records were reviewed to determine the characteristics of the disease and to confirm association with other autoimmune diseases. Infertility was defined as 12 months of unprotected sexual intercourse without conception.Results. The prevalence of infertility was 52.3% in GD and 47.0% in HT. Mean age at diagnosis was 36.5 years and 39.2 years, in GD and HT, respectively. The mean number of pregnancies was lower in women who were 35 years old or younger at diagnosis and was always lower following diagnosis of the disease, irrespective of age. The only variable associated with infertility was a shorter time of the disease in HT.Conclusions. The prevalence of infertility was high in women with GD and HT and affected the number of pregnancies in young women.


2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Mastore Rahimi ◽  
Ghodratollah Roshanaei ◽  
Javad Faradmal ◽  
Bayazid Ghaderi ◽  
Leila Moradi

Background: Stomach cancer is the fourth most common cancer in the world and first cancer in Iran. The northern and northwestern regions of the country are areas with a high prevalence of gastrointestinal cancers, especially gastric cancer. Different factors are effective in the incidence of this cancer. Objectives: The present study aimed to evaluate the epidemiology of gastric cancer. Methods: This research was a cross-sectional study. All patients referred to Tohid Hospital in Sanandaj between 2012 and 2018 were examined. Data were extracted using patients' medical records. Descriptive information was collected through SPSS software, and the results were analyzed. Results: The number of patients in this study was 553. The mean age was 66.9 years, and the highest age group was 60 - 80 years. Four hundred twelve patients were male, and 141 were female. In 50% of patients, the location of the cardiac tumor was gastric. Chemotherapy was the most common treatment in more than 60% of patients. Conclusions: The results of this study show that smoking is unfortunately high in patients in this province. An educational intervention to quit smoking is recommended. Smoking is an important risk factor for gastric cancer, and this intervention may also be effective in reducing the incidence of this disease.


2017 ◽  
Vol 4 (2) ◽  
pp. 680 ◽  
Author(s):  
Nishad Kerakada ◽  
Ganesh Manikantan ◽  
Meer M. Chisthi

Background: Mass iodization of table salt was introduced by the Government of India to treat as well as prevent iodine deficiency problems including goitres. However, even after so many years of introduction of iodized salt, the number of patients reporting with multi nodular goiter to the hospitals in Kerala seems to be high. The coastal districts of Trivandrum and Kollam report especially high prevalence of goitres and subsequently thyroidectomies. The aim of this study was to find the prevalence of iodine deficiency among patients with multi nodular goiter in South Kerala.Methods: This was a cross sectional study of 300 patients admitted with multinodular goitre in the general surgical wards of Government Medical College Trivandrum, Kerala, India. From June 2013 to June 2014, these patients were evaluated clinically and with the investigatory facilities available at this institution. Their urine spot iodine excretion levels were measured at the laboratory of state iodine deficiency control cell, Trivandrum, Kerala, India.Results: Out of the 300 cases, 6 patients were found to have mild iodine deficiency. Mean iodine level was normal at 170 microgram per decilitre. The prevalence of iodine deficiency in multinodular goiter cases studied was found to be 2%.Conclusions: The high prevalence of multinodular goiter cases in Kerala cannot be sited per se as due to iodine deficiency as only 2% of the total number of cases studied had low urine iodine levels. This raises a question whether the salt iodization programme needs to be re-analyzed and possibly re-structured for the state of Kerala.


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