Effect of mid-dose acetylsalicylic acid on thromboxane B2 and development of preeclampsia. A clinical trial

Introduction: Acetylsalicylic acid (ASA) is widely used drug and new studies have been published about the usefulness of ASA on a variety of diseases e.g. preeclampsia (PE). Despite substantial researches there are still a lack of information on what dose is optimum for specific groups of people e.g. obese patients and different clinical situations. The aim of this study is to observe the effect of ASA on thromboxane B2 (TxB2) and see if the effect differs between different patient groups. Secondary objective is to analyze if the effect of ASA is weight dependent in pregnant women in high risk for developing PE. Methods and data: Five participants were enrolled in the study and received 150 mg of ASA. Blood samples were collected before and after the ASA administration. TxB2 competitive enzyme immunoassay (EIA) was used to determine the TxB2 concentration in the plasma. Data obtained from the researchers of the PREDO project was analyzed using t-tests and Fisher´s exact test with respect to BMI and dose-weight relationship of the women who participated. Results: TxB2 concentration decreases significantly but increases rapidly again in first two hours of measurement, and decreases again rapidly. The TxB2 concentration appears to increase most in the obese participant. The statistical analysis results indicated that women in normal or overweight have a greater prophylactic benefit of ASA, than obese women for developing PE. Women who received ASA but developed PE had an average higher BMI than women that did not develop PE. These women also had on average lower dose-weight relationship than women who did not developed PE. Conclusion: The effects of ASA on TxB2 are evident and significant despite few participants. For prophylactic usage of ASA in obese women in high risk for developing preeclampsia it might be necessary to adjust the dose by weight, but further studies are needed.Inngangur: Asetýlsalisýlsýra (ASA) er mikið notað lyf og nýjar rannsóknir hafa verið birtar um gagnsemi þess við hinum ýmsum sjúkdómum, t.d. meðgöngueitrun (e. Preeclampsia, PE). Þrátt fyrir margar rannsóknir skortir enn upplýsingar um ákjósanlegustu skammtastærðirnar fyrir mismunandi hópa fólks t.d. offitusjúklinga og fyrir ólík klínísk einkenni. Markmið þessarar rannsóknar er að skoða hver áhrif ASA er á þromboxan B2 (TxB2) og meta hvort áhrifin séu mismunandi eftir sjúklingahópum. Annað markmið er að greina hvort áhrif ASA sé þyngdarháð hjá þunguðum konum sem eru í mikilli áhættu á að fá PE. Efniviður og aðferðir: Fimm þátttakendur voru skráðir til þátttöku og fékk hver um sig 150 mg af ASA. Blóðsýnum var safnað fyrir og eftir ASA gjöf. TxB2 samkeppnishæft ensímsónæmispróf (EIA) var notað til að ákvarða TxB2 styrk í blóði. Gögn fengin frá rannsakendum PREDO verkefnisins voru greind með t-prófi og Fisher prófi með tilliti til BMI og skammt miðað við þyngd þeirra kvenna sem tóku þátt. Niðurstöður: TxB2 styrkur minnkar verulega en eykst hratt aftur fyrstu tveimur klukkustundum frá mælingu og minnkar síðan hratt aftur. TxB2 styrkur virðist aukast mest hjá þátttakandanum í ofþyngd. Tölfræðilegar niðurstöður benda til þess að konur í eðlilegri þyngd eða yfirvigt hafi meiri gagn af ASA notkun en of feitar konur sem fyrirbyggjandi gegn PE. Konur sem fengu ASA og fengu PE höfðu að meðaltali hærri líkamsþyngdarstuðul en konur sem ekki fengu PE í sama hópi. Þær konur voru einnig að meðaltali með lægri skammta miðað við þyngd en konur sem ekki fengu PE miðað við sömu skammtastærð. Ályktun: Áhrif ASA á TxB2 eru augljós og marktæk þrátt fyrir fáa þátttakendur. Ef nota á ASA sem fyrirbyggjandi meðferð hjá of feitum konum í mikilli áhættu á að fá meðgöngueitrun gæti verið nauðsynlegt að aðlaga skammtinn að þyngd, en frekari rannsókna er þörf

Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome

This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention deficit/hyperactivity disorder (ADHD) were diagnosed in 44 cases. ASD was diagnosed in 23 cases of whom only 5 had autistic disorder. ADHD was diagnosed in 30 individuals. In nine of these cases with ASD or ADHD there was a combination of these diagnoses. Mental retardation (MR) with or without ASD/ADHD was diagnosed in 51 individuals. ASD, ADHD, and/or MR were present in 67 cases. Females had higher IQ than males. The results of this study showed that the vast majority of all individuals with 22q11 deletion syndrome have behavior and/or learning problems and more than 40% meet criteria for either ASD, ADHD or both. Neuropsychiatric and neuropsychological evaluations are indicated as parts of the routine clinical assessment of individuals with 22q11 deletion syndrome

Vöðvalengd aftanlærisvöðva hjá hlaupurum. Kvenhlauparar bornir saman við almenning og kvenhlaupara sem stunda jóga

Tilgangur: Kanna hvort munur væri á lengd aftanlærisvöðva hjá þremur hópum kvenna, 30-45 ára. Hópur 1 voru konur sem hlaupa a.m.k. 25 km á viku og stunda jóga ≥1 sinni í viku; hópur 2 voru konur sem hlaupa ≥25 km á viku; hópur 3 voru konur sem stunda almenna líkamsrækt ≥3 sinnum í viku (almenningur). Deilt er um hvort liðleiki sé ákjósanlegur fyrir kvenhlaupara og vildum við því skoða það nánar. Aðferð: Þátttakendur voru valdir með hentugleikaúrtaki. Niðurstöður fengust frá mælingum á 36 konum. Þátttakendur svöruðu spurningalista um hreyfingu og meiðsli og svo var aftanlærisvöðvalengd mæld með Óvirkri hnéréttu (Passive knee extension). Þátttakendur þurftu að hafa verið án aftanlærismeiðsla í sex mánuði áður en mælingar hófust. Niðurstöður: Þegar hóparnir voru bornir saman fékkst marktækur munur á milli hóps 1 og 2 og hóps 2 og 3, en ekki á milli hóps 1 og 3. Því mátti sjá að aftanlærisvöðvalengd var marktækt meiri hjá almenningi (3) en hjá hlaupurum (2) (p=0,042). Hlauparar sem stunda jóga voru með marktækt lengri aftanlærisvöðva en hinir hlaupararnir (p=0,0006). Ekki var munur á vöðvalengd hjá hlaupurum sem stunda jóga og almenningi (p=0,092). Samantekt: Niðurstöður sýndu að kvenhlauparar voru með styttri aftanlærisvöðva en almenningur. Einnig voru kvenhlauparar með styttri aftanlærisvöðva en kvenhlauparar sem stunduðu jóga. Rannsóknir í dag hafa ekki getað sýnt fram á aukinn árangur eða lægri meiðslatíðni með bættum liðleika. Sé bættur árangur markmiðið í hlaupi eru teygjur mögulega ekki besti kosturinn. Þó teljum við að jóga sé ákjósanlegt fyrir hlaupara til að auka vellíðan og slökun.Purpose: To see if a difference could be found in the length of the hamstring muscles between three groups of women aged 30-45. Group 1 included women who run ≥25 km a week; group 2 included women who run ≥25 km a week and practice yoga at least once a week; and group 3 included women who do physical exercise ≥3 times a week. There have been debates about whether flexibility is in fact preferable for women who practise running and so we wanted to reflect upon that subject. Methods: Participants were selected at random. Results were obtained from 36 women. Participants answered questionnaires about physical activity and injuries and the hamstrings muscle length was measured with passive knee extension (PKE). Participants had to have been without hamstrings injury for six months before measurements began. Results: When the groups were compared a significant difference was found between group 1 and 2 and between 2 and 3, but not between 1 and 3. Hamstrings muscle length was significantly greater in the general population(3) than in the runners(2) (p=0.042). Runners who practiced yoga had significantly greater hamstrings muscle length than the runners(2) (p=0.0006). There was no difference in muscle length between runners who practiced yoga and the general population (p=0.092). Conclusion: The results showed that female runners had shorter hamstring muscles than the general population. Female runners also had shorter hamstring muscle than female runners who practiced yoga. Studies today have not been able to demonstrate higher performance or lower injury rate with improved flexibility. If improved performance in running is the goal, stretching may not be the best option. However, we believe that yoga is desirable for the runners for ease and relaxation

22q11DS : ett ovanligt vanligt syndrom

22q11-deletionssyndrom (22q11DS) är ett vanligt syndrom som förekommer hos ett av 4 000 nyfödda barn. Diagnosen har ett flertal medicinska symtom men också neuropsykiatriska och psykiska. 22q11DS påverkar även tänder, mun och oral hälsa på flera olika sätt. Det är därför viktigt att tandvårdspersonal har kännedom om diagnosen

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues