Abstract：
INTRODUCTION:We investigated the frequency of con-sanguinity among the parents to newborns with inborn errors of metabolism (IEM) diagnosed by neonatal screening. METHODS:Data were obtained from 15 years of national newborn screening for selected IEM with autosomal recessive mode of inheritance. Among the 838,675 newborns from Denmark, The Faroe Islands and Greenland, a total of 196 newborns had an IEM of whom 155 from Denmark were included in this study. These results were crosschecked against medical records. Information on consanguinity was extracted from medical records and obtained through telephone contact with the families. RESULTS:Among ethnic Danes, two cases of consanguinity were identified among 93 families (2.15%). Among ethnic minorities, there were 20 cases of consanguinity among a total of 33 families (60.6%). Consequently, consanguinity was 28.2 times more frequent among descendants of other geographic places of origin than Denmark. The frequency of consanguinity was high among children of Pakistani, Afghan, Turkish and Arab origin (71.4%). The overall frequency of IEM was 25.5 times higher among children of these ethnic groups than among ethnic Danish children (5.35:10,000 versus 0.21:10,000). The frequency of IEM was 30-fold and 50-fold higher among Pakistanis (6.5:10,000) and Afghans (10.6:10,000), respectively, compared with ethnic Danish children. CONCLUSIONS:The data indicate a strong association between consanguinity and IEM. These figures may be useful to health professionals providing antenatal, paediatric and clinical genetic services. FUNDING:none. TRIAL REGISTRATION:not relevant.
journal_name
Dan Med Jjournal_title
Danish medical journalauthors
Afzal RM,Lund AM,Skovby Fsubject
Has Abstractpub_date
2018-10-01 00:00:00issue
10issn
2245-1919pii
A5508journal_volume
65pub_type
杂志文章abstract：INTRODUCTION:Pain and distress during minor hospital-related procedures is a familiar problem in many children. Inadequate relief of children's procedural pain and distress not only affects the experience of the children and their parents, but also adversely impacts procedural success. We aimed to review the safety and...
journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2013-06-01 00:00:00
abstract：INTRODUCTION:Due to disagreement on optimal timing of inguinal hernia repair in children, we explored how Danish surgeons plan repair in children at different ages and with different symptoms. METHODS:A validated questionnaire on timing of inguinal hernia repair in children was sent to all surgeons performing paediatr...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2020-12-22 00:00:00
abstract：INTRODUCTION:An indication of the adequacy of the intra-vascular volume is of importance in critically ill patients. The status of the intravascular volume can be determined from a fluid challenge test. Most tests involve invasive monitoring. An exception is the capnographic measurement of changes in end-tidal (ET) CO2...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2019-09-01 00:00:00
abstract：INTRODUCTION:Recent studies have reported an asso-ciation between the day of week of surgery and post-operative mortality, meaning that patients undergoing surgery at the end of the week or during weekends may be at higher risk. The aim of this study was to investigate the influence of the day of week of surgery on mor...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2019-07-01 00:00:00
abstract：INTRODUCTION:Due to the coronavirus disease 2019 (COVID-19) exposure in Denmark, first-line referral centres were established to handle all patients suspected of COVID-19 or other upper respiratory tract infection. Here we report the first experiences from a first-line referral centre from Amager-Hvidovre Hospital, sit...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2020-08-07 00:00:00
abstract：INTRODUCTION:The treatment strategy for appendiceal mass is controversial, ranging from operation or image-guided drainage to conservative treatment with or without antibiotics. The aim of this study was to assess the various treatment modalities with respect to complications and treatment failure. METHODS:The analysi...
journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2014-08-01 00:00:00
abstract：:The overall aim of this thesis was to validate the new concept of the Fertility Assessment and Counselling (FAC) Clinic at Rigshospitalet. The intention was to: explore the prognostic value of fertility risk factors by a risk score and provide an estimate of female fecundity, to quantify the impact of oral contracepti...
journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2016-10-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2018-11-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2019-12-01 00:00:00
abstract：:The epidemiology and prognosis of ''fainting'' or syncope has puzzled physicians over the years. Is fainting dangerous? This is a question often asked by the patient--and the answer is ''it depends on a lot of things''. The diverse pathophysiology of syncope and the underlying comorbidites of the patients play an esse...
journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2013-09-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2015-02-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2018-04-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-01 00:00:00
abstract：INTRODUCTION:The optimal treatment of acute, displaced midshaft clavicle fractures is controversial. Despite lack of compelling evidence towards superior results after primary surgery, it seems that more and more patients are treated surgically. The aim of this study was to investigate which treatment modality should b...
journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2012-07-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章,多中心研究
doi：
更新日期：2016-10-01 00:00:00
abstract：INTRODUCTION:Vitamin D plays an important role in a broad range of organ functions, including the cardiovascular system. Only one study has tested the association between vitamin D deficiency and arrhythmia and it found no association. The aim of the present study was to evaluate the association between vitamin D defic...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：INTRODUCTION:Danish healthcare seeks to improve cancer survival through improved diagnostics, rapid treatment and increased focus on cancer prevention and early help-seeking. In neuro-oncology, this has resulted in the Integrated Brain Cancer Pathway (IBCP). The paper explores how the pathway works in the initial phase...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2012-05-01 00:00:00
abstract：INTRODUCTION:Patients' non-attendance is a significant problem in modern healthcare. Non-attendance delays treatment, reduces efficiency and increases healthcare costs. For several years, the introduction of financial incentives such as a non-attendance fee has been discussed in Denmark. Set in the context of a tax-fin...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2016-07-01 00:00:00
abstract：INTRODUCTION:Surveying sexual behaviour of the general population serves to identify key points of preventive interventions, monitor the effect and interpret changes in patterns of disease. Validated questionnaires describing sexual behaviour can be adapted to some extent from other countries, but national adaption, re...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2013-01-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2012-06-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2015-09-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2013-07-01 00:00:00
abstract：INTRODUCTION:Since 1992 the Danish Patient Insurance Association (DPIA) has been receiving claims from patients who had suffered an injury during examination or treatment in Danish healthcare. We have presently collected more than 85,000 patient cases in our database, which we make accessible to research that can promo...
journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2013-08-01 00:00:00
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journal_title：Danish medical journal
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doi：
更新日期：2020-03-01 00:00:00
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doi：
更新日期：2020-10-20 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2018-01-01 00:00:00
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journal_title：Danish medical journal
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doi：
更新日期：2014-01-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2017-04-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章,评审
doi：
更新日期：2012-06-01 00:00:00
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journal_title：Danish medical journal
pub_type： 杂志文章
doi：
更新日期：2016-06-01 00:00:00
