Jansen de Vries syndrome: Report of four new patients and review of the literature.

Jansen de Vries syndrome (JDVS, OMIM: 617450) is a rare neurodevelopmental disorder associated with hypotonia, behavioral features, high threshold to pain, short stature, ophthalmological abnormalities, dysmorphism and occasionally a structural cardiac condition. It is caused by truncating variants of the last and penultimate exons of PPM1D. So far, 21 patients with JVDS have been reported in the literature.

Cardiovascular morbidity following conventional therapy versus allogeneic hematopoietic stem cell transplantation after childhood, adolescent, and young adult leukemia in Finland.

Allogeneic hematopoietic stem cell transplantation (aHSCT) represents a therapeutic choice for high-risk and relapsed leukemia at a young age. In this retrospective population-based study, we evaluated cardiovascular complications after aHSCT (N = 272) vs conventional therapy (N = 1098) among patients diagnosed with acute lymphoblastic or acute myeloid leukemia below 35 years between 1985 and 2004. Additionally, siblings from a prior comparison group served as population controls (N = 39 217).

Congenital Hypothyroidism and Hyperthyroidism Alters Adrenal Gene Expression, Development, and Function.

The human adrenal cortex undergoes several rapid remodeling steps during its lifetime. In rodents, similar remodeling occurs postnatally in the "X-zone" layer through unknown mechanisms. Furthermore, little is known regarding the impact of thyroid hormone (TH) on adrenal glands in humans.

Penetration of MeV electrons into the mesosphere accompanying pulsating aurorae.

Pulsating aurorae (PsA) are caused by the intermittent precipitations of magnetospheric electrons (energies of a few keV to a few tens of keV) through wave-particle interactions, thereby depositing most of their energy at altitudes ~ 100 km. However, the maximum energy of precipitated electrons and its impacts on the atmosphere are unknown. Herein, we report unique observations by the European Incoherent Scatter (EISCAT) radar showing electron precipitations ranging from a few hundred keV to a few MeV during a PsA associated with a weak geomagnetic storm.

Purchases of antidepressants after cancer at a young age in Finland.

According to previous studies, childhood cancer survivors have an elevated risk for late mental health effects. However, only few studies exist on young adulthood (YA) cancer survivors' mental health outcomes. In our study, we examined first time antidepressant (AD) medication purchases of childhood and YA cancer patients compared to siblings.

Partial thyrocyte-specific Gα deficiency leads to rapid-onset hypothyroidism, hyperplasia, and papillary thyroid carcinoma-like lesions in mice.

Thyroid function is controlled by thyroid-stimulating hormone (TSH), which binds to its G protein-coupled receptor [thyroid-stimulating hormone receptor (TSHR)] on thyrocytes. TSHR can potentially couple to all G protein families, but it mainly activates the G- and G-mediated signaling cascades. To date, there is a knowledge gap concerning the role of the individual G protein cascades in thyroid pathophysiology.

Genetically modified mouse models to investigate thyroid development, function and growth.

The thyroid gland produces thyroid hormones (TH), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH) that binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways. TSH primarily activates the G-pathway, and at higher concentrations also the G-pathway, leading to an increase of intracellular cAMP and Ca, respectively.

Auroral molecular-emission effects on the atomic oxygen line at 777.4 nm.

One of the representative auroral emission lines that radiates from F-region heights and is measurable on the ground is the 777.4 nm line from excited atomic oxygen. This line has been adopted, along with another E-region emission line, for example 427.

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

Background: Congenital hypothyroidism (CH) is defined as the lack of thyroid hormones at birth. Mutations in at least 15 different genes have been associated with this disease. While up to 20% of CH cases are hereditary, the majority of cases are sporadic with unknown etiology.

Health conditions associated with metabolic syndrome after cancer at a young age: A nationwide register-based study.

Purpose: Childhood cancer survivors are at risk for developing metabolic syndrome (MetS), which subsequently leads to cardiovascular morbidity and excess mortality. Our aim was to investigate the purchases of medications associated with MetS among 7551 early onset cancer patients compared to siblings.

Methods: Our nationwide Finnish population-based registry study analyzed the drug purchase of medication among early onset cancer patients diagnosed with cancer below the age of 35 years between 1994 and 2004 compared to siblings by linkage to the drug purchase registry, allowing for a maximal follow-up of 18 years.

Cardiovascular medication after cancer at a young age in Finland: A nationwide registry linkage study.

Despite improved survival rates, childhood and young adult (YA) cancer survivors face elevated risks for life-threatening morbidities, especially cardiovascular complications. Our nationwide Finnish registry study investigated the purchases of cardiovascular medication from 1993 to 2011 in patients diagnosed with cancer aged below 35 years (N = 8,197) between 1993 and 2004 compared to siblings (N = 29,974) via linkage to the drug purchase registry. The cumulative incidence for purchasing cardiovascular medications was higher in childhood and YA cancer patients compared to siblings with a rising trend over time.

Late mortality among 5-year survivors of early onset cancer: a population-based register study.

To date, only few studies have been published documenting late mortality among early onset cancer survivors, especially regarding young adulthood (YA) malignancies. Our nation-wide population-based registry study provides information concerning cause-specific long-term mortality among 16,769 5-year survivors of early onset cancer (aged 0-34 years at diagnosis), with follow-up for death extending from 1971 through 2012. A sibling cohort and population data were used as reference.

Cardiovascular morbidity in long-term survivors of early-onset cancer: a population-based study.

Improvements in cancer therapy have resulted in an expanding population of early-onset cancer survivors. In contrast to childhood and adolescent cancer survivors, there is still a lack of data concerning late morbidities among young adult (YA) cancer survivors. Thus, our aim was to investigate cardiac and vascular morbidity among early-onset cancer survivors with a special interest in YA cancer survivors.

Meaning of work and the returning process after breast cancer: a longitudinal study of 56 women.

Background: An increasing number of women survive breast cancer and a majority return to work. However, findings based on mean values may conceal individual processes that need to be better understood to discuss meaningful rehabilitation.

Aim: The purpose of this study is to describe the sick-leave pattern of a group of Swedish women with primary breast cancer but foremost to explore their ideas about what motivates and discourages their return to work.

The impact of breast cancer on living an everyday life 4.5-5 years post-diagnosis - a qualitative prospective study of 39 women.

Background: The survival of women with breast cancer has improved. There are many studies available describing different aspects of how the illness and its treatment affect the women. Usually these studies are cross-sectional and focus on assessments of a sample of women at a single point in time during post-treatment.

Home abortion - experiences of male involvement.

Objective: To gain knowledge about the male partner's experience of being present during an induced home abortion.

Methods: Twenty-three couples, whose male partner had been present when the woman aborted at home, were interviewed one to two weeks post-abortion.

Results: Each of the men supported his partner in her decision to have a home abortion, as this gave him the possibility of being near and of caring for her needs on the expulsion day.

Home abortion implies radical changes for women.

Objective: To gain knowledge about women's experiences, views and reactions regarding having a home abortion (medical abortion with the use of misoprostol at home).

Methods: One hundred women were interviewed one week post-abortion; this yielded both quantitative and qualitative data.

Results: The overwhelming majority of the women experienced wellbeing and were satisfied with their choice of abortion method.

'Admission into a helping plan': a watershed between positive and negative experiences in breast cancer.

Unlabelled: Cancer patients are in an exposed situation that raises certain psychosocial needs in contact with health care. Previous studies have mainly investigated these needs by assessments on pre-defined categories.

Objective: The purpose of the present study is, from the patients' perspective, to identify breast cancer patients' psychosocial needs, and to synthesise them in a model reflecting the core of these needs.

Increased contraceptive use one year post-abortion.

Background: The aim of the study was to investigate the impact of abortion on contraceptive use, partner relationship and sexual satisfaction.

Methods: In a longitudinal study, 58 women answered a pre-abortion questionnaire and participated in two interviews, one in connection with the abortion and a second 1 year later.

Results: Most women (40/58) had retained the same partner 1 year after the abortion.

Reactions and reflections in men, 4 and 12 months post-abortion.

Background: in general, men involved in legal abortion constitute an invisible group and there is scarcely any knowledge about their experiences and opinions. Therefore, the aim of the present study was to increase knowledge about reactions and reflections by means of a prospective study of men's attitudes and feelings towards abortion.

Methods: twenty-six men answered a questionnaire before abortion, and participated in interviews at the time of abortion and 4 and 12 months post-abortion.

Wellbeing and mental growth-long-term effects of legal abortion.

The present study aims to increase knowledge about coping with legal abortion by studying women's reasoning, reactions and emotions over a period of 1 year. The study comprises interviews focusing on the experiences and effects of abortion in 58 women, 4 and 12 months after the abortion. The women also answered a questionnaire before the abortion concerning their living conditions, decision-making process and feelings about the pregnancy and the abortion.

Contraceptive risk-taking in women and men facing legal abortion.

Objective: The aim of the study was to gain knowledge about contraceptive use, reproductive risk-taking and sexuality in Swedish women seeking abortion and their partners.

Methods: Two hundred and eleven women and 75 men answered a questionnaire before the abortion. The data have been divided into six subgroups: women with and without previous experience of abortion, single women and women with a partner relationship, and women whose partner participated in the study and the male partners.

Legal abortion: a painful necessity.

This study was conducted to increase knowledge about the psychosocial background and current living conditions of Swedish women seeking abortion, along with their motives for abortion and their feelings towards pregnancy and abortion. Two hundred and eleven women answered a questionnaire when they consulted the gynaecologist for the first time. The study indicates that legal abortion may be sought by women in many circumstances and is not confined to those in special risk groups.