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Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome. The aim of this study was to compare phenotypes of patients with SCN1A and non-SCN1A gene mutation-related Dravet syndrome.
Thirty-six patients with Dravet syndrome-like phenotypes were followed from July 2017 to December 2019. We retrospectively analyzed their clinical profiles and genetic surveys.
Of the 36 enrolled patients, 15 (41.7%) had SCN1A mutations, one (2.8%) had an SCN8A mutation, one (2.8%) had an STX1B mutation, and five females (13.9%) had PCDH 19 mutations. The median age at first seizure onset was 7 months in those with SCN1A mutations, 1.3 years in those with PCDH19 mutations, and 10 months for the remaining patients. The majority of the patients with SCN1A mutations had status epilepticus (80% vs. 20%)onset with focal seizure type, and relatively young age at seizure onset. The patients with PCDH19 mutations had a relatively high rate of abnormal brain magnetic resonance imaging findings.
Optic nerve sheath diameter (ONSD) ultrasound is a noninvasive and repeatable tool to dynamically evaluate intracranial pressure with high diagnostic accuracy; however, data in neonates are scarce. The aim of this study was to determine the reference value of ONSD and potential influencing factors in healthy term neonates.
We retrospectively reviewed 250 full-term neonates who underwent cranial ultrasound as part of selective newborn screening over a 2-year period. Neonates with any of the following conditions were excluded using mechanical ventilation, sedatives and/or vasopressors, or signs of infection which needed cerebrospinal fluid analysis and/or intracranial pathologies. Data on sex, gestational age, birth body weight, birth body height, birth head circumference, Apgar score and types of delivery were collected. The neurodevelopmental outcomes were reviewed.
A total of 234 neonates (123 girls and 111 boys) were included. The mean ONSD value was 3.30±0.27mm in the right eye and 3.30±0.23mm in the left eye, with no significant difference between both eyes (p=0.797). Male neonates had a larger ONSD than female neonates (3.34±0.22mm versus 3.26±0.20mm, p=0.007), and ONSD was correlated with birth weight in the males. Otherwise, there were no statistically significant associations between ONSD and other birth characteristics in both sexes. Most (63%) cases were followed for at least 12 months, and 98% had normal neurodevelopment.
The reference value reported in this study may be used to evaluate the ONSD in healthy term neonates. Sex differences should be considered in this age group.
The reference value reported in this study may be used to evaluate the ONSD in healthy term neonates. Sex differences should be considered in this age group.
Digital media such as Apps, Internet and social networks have become integral parts of the maternity experience for more than a decade. These media can support or undermine women's experiences as has been shown in digital sociology research. Using Immediate Messaging Applications to provide information and support to women during the perinatal period is an emerging practice.
This article analyses how health and social care professionals - with a focus on community midwives - and women communicate between postpartum home visits through Immediate Message Applications in Switzerland.
A socio-anthropological study that relied on qualitative methods including semi-directed interviews with midwives and health and social care professionals (n = 30) and immigrant women (n = 20).
Since the introduction of Immediate Messaging Applications, women and their carer converse more regularly between post-partum home visits. Women send questions, pictures and videos to them, often allowing swift responses to their concerns. Midwives encounter difficulties answering women's questions when they cannot be solved through quick communication (e.g. infant crying). To them, texting frequency forms a clinical clue to women's mental health. Not all women contact their carer through digital messages; immigrant women are less likely to know and use this service.
Immediate Messaging Applications form a promising communication tool, complementary to home visits, and contribute to woman-centered care and continuity of care. As an emergent practice, it has not been framed by a guideline yet. Policy makers and practitioners should ensure that its use does not contribute to unequal access to care.
Immediate Messaging Applications form a promising communication tool, complementary to home visits, and contribute to woman-centered care and continuity of care. As an emergent practice, it has not been framed by a guideline yet. Policy makers and practitioners should ensure that its use does not contribute to unequal access to care.
Midwifery students' experiences with preceptors in the clinical environment plays an integral role in developing the confidence and competence of students. As up to 50% of the midwifery program is taught in the clinical environment, an analysis of the preceptorship role in the context of midwifery student confidence and competence may be important to inform future practice and policy.
To discover, whilst on clinical placement, what is required by preceptors to suitably equip midwifery students to develop confidence and competence in the clinical environment.
A search of the literature was undertaken using health and midwifery related electronic databases of PubMed, CINAHL, Intermid, SCOPUS and Web of Science. Grey literature, and reference lists from studies were also part of the thorough search process.
After critical reading of the 15 included studies, there were a number of themes identified as the preceptor qualities that contributed to student confidence and competence. Those themes include 'belongingness', 'hands on experience/skill development', 'students' development of professional identity' and 'preceptor characteristics that impact student learning'.
Student confidence and competence can be dependent on the preceptor who supports them. There are preceptors who enable students to flourish in their confidence and competence, and there also appears to be preceptors who do not possess these qualities, which requires further enquiry.
As the evidence appears to find that trained preceptors are optimal for student confidence and competence, further enquiry is warranted to inform policy and practice around the concept of preceptorship training for midwives.
As the evidence appears to find that trained preceptors are optimal for student confidence and competence, further enquiry is warranted to inform policy and practice around the concept of preceptorship training for midwives.
Network Analysis (NA) is a method that has been used in various disciplines such as Social sciences and Ecology for decades. So far, NA has not been used extensively in studies of medication use. Only a handful of papers have used NA in Drug Prescription Networks (DPN). We provide an introduction to NA terminology alongside a guide to creating and extracting results from the medication networks.
To introduce the readers to NA as a tool to study medication use by demonstrating how to apply different NA measures on 3 generated medication networks.
We used the Norwegian Prescription Database (NorPD) to create a network that describes the co-medication in elderly persons in Norway on January 1, 2013. We used the Norwegian Electronic Prescription Support System (FEST) to create another network of severe drug-drug interactions (DDIs). Lastly, we created a network combining the two networks to show the actual use of drugs with severe DDIs. We used these networks to elucidate how to apply and interpret differen and discovering structures in medication use studies, it also has limitations. It can be challenging to interpret and it is not suitable for hypothesis testing.As an extremely heterogeneous disease, lupus erythematosus (LE) occurs when a genetically susceptible individual encounters specific environmental triggers. Epigenetics bridges genetics and environment and helps explain their interactions. Selleck TDI-011536 Comprehensively understanding the hidden mysteries behind the genome, epigenome, and exposome of lupus could contribute to precision prevention and treatment of lupus.
Patients with diabetes mellitus (DM) have a high prevalence of coronary chronic total occlusions (CTOs). We conducted a systematic review and meta-analysis to characterize outcomes after CTO percutaneous coronary intervention (PCI) in patients without or with DM.
PubMed, EMBASE, Cochrane, and Google Scholar were queried for studies comparing non-DM vs. DM patients undergoing attempted CTO PCI. The primary outcome was all-cause mortality at longest follow-up (at least 6 months). Secondary outcomes were major adverse cardiovascular events (MACE) which is a composite endpoint including myocardial infarction, cardiac or all-cause mortality and any revascularization in patients after CTO PCI, target vessel revascularization (TVR), myocardial infarction (MI), Japanese chronic total occlusion (J-CTO) score and prevalence of multivessel (MV) CTO disease. We used a random effects model to calculate odds ratios (ORs) and 95% confidence intervals (CIs).
Sixteen studies, including 2 randomized control trials and 14 observational studies, met inclusion criteria. At longest follow-up, all-cause mortality (OR 0.54 [95% CI 0.37-0.80], p < 0.0001) and MACE (OR 0.82 [95% CI 0.72-0.93], p < 0.00001) were significantly lower in non-DM CTO patients. MV CTO disease was less prevalent in patients without DM (OR 0.80 [95% CI 0.69-0.93], p = 0.004). However, there were no differences in MI, TVR and J-CTO score.
Non-diabetics undergoing CTO PCI have lower all-cause mortality and MACE than diabetics. Future research may determine if DM control improves diabetics' CTO PCI outcomes.
Non-diabetics undergoing CTO PCI have lower all-cause mortality and MACE than diabetics. Future research may determine if DM control improves diabetics' CTO PCI outcomes.It is morally distressing when a healthcare provider sees patients with undertreated pain but is unable to provide adequate relief because of a surrogate's refusal of such treatment. This issue might occur when there is no clear advanced directive that represents patients' wishes for treatment, and can be further complicated when patients are of minority cultural backgrounds. This article presents a case where the surrogate of a Korean-American woman with severe somatic pain from metastatic pancreatic cancer requested only acetaminophen be given to control the patient's pain. The ethical issues associated with surrogate misconceptions on therapeutic use of opioids are reviewed. This case highlights the ethical dilemma of withholding opioid treatment in a patient with advanced cancer. We conclude that the obligation to treat pain should be understood beyond the authority of surrogate refusal, in favor of patient quality of life, when an advance directive is not in place.
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