MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, MAPK signaling, and cell survival. Polymorphisms in the MADD locus are associated with glycemic traits, but patients with biallelic variants in MADD manifest a complex syndrome affecting nervous, endocrine, exocrine, and hematological systems. We identified a homozygous splice site variant in MADD in 2 siblings with developmental delay, diabetes, congenital hypogonadotropic hypogonadism, and growth hormone deficiency.
View Article and Find Full Text PDFA multicenter randomized controlled pilot trial investigated whether motivational interviewing (MI) by diabetes physicians improves glycemic control and variability in the context of follow-up for adolescent patients with poorly controlled type 1 diabetes. Patients ( = 47) aged 12 to 15.9 years who showed poor glycemic control (HbA1c >75 mmol/mol/9.
View Article and Find Full Text PDFHistological analysis is meaningful in diagnosis only if the targeted tissue is obtained in the biopsy. Often, physicians have to take a tissue sample without accurate information about the location of the instrument tip. A novel biopsy needle with bioimpedance-based tissue identification has been developed to provide data for the automatic classification of the tissue type at the tip of the needle.
View Article and Find Full Text PDFIntroduction: Primary maternity care services are globally provided according to various organisational models. Two models are common in Finland: a maternity health clinic and an integrated maternity and child health clinic. The aim of this study was to clarify whether there is a relation between the organisational model of the maternity health clinics and the utilisation of maternity care services, and certain maternal and perinatal health outcomes.
View Article and Find Full Text PDFThis study explored the parenting self-efficacy of the parents of 18-month-old children in the context of Finnish maternity and child health clinics. This parenting self-efficacy was observed in relation with the relational continuity of care and parents' experienced loneliness and depressive symptoms. The relational continuity of care was provided by a public health nurse in maternity and child health clinics.
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