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Objective To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. Methods The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyopathy-related genes. A143T/GLA, the only rare variant found, was screened in 10 relatives. GLA activity and lyso-Gb3 levels were measured and echocardiography was performed in 8 of 9 subjects carrying A143T/GLA. Cardiac magnetic resonance (CMR) imaging and 18F-fluorodeoxyglucose (FDG) positron emission tomography/CT (PET/CT) were performed in four adult A143T/GLA carriers. Endomyocardial biopsy was obtained from two adult A143T/GLA carrying sons of the index patient. Results The index patient and her elder son had a pacemaker implantation because of sick sinus syndrome and atrioventricular block. GLA activities were decreased to 25%–40% of normal in both sons and one granddaughter. Lyso-Gb3 levels were elevated in both sons. In CMR, the index patient and her two sons had left ventricular (LV) hypertrophy and/or dilatation. The elder son had late gadolinium enhancement, high CMR-derived T1 time and positive FDG signal in PET/CT in the basal inferolateral LV wall. The younger son had low T1 time and the mother had positive FDG signal in PET/CT in the basal inferolateral LV wall. Endomyocardial biopsy of both sons showed myocardial accumulation compatible with glycolipids in light and electron microscopy, staining with anti-Gb3 antibody available for the younger son. Five female relatives with A143T/GLA had no cardiomyopathy in cardiac imaging. Conclusions A143T/GLA is likely a late-onset Fabry cardiomyopathy causing variant with incomplete penetrance.

Supplemental material, sj-docx-3-sjp-10.1177_14034948221119611 for Exposure to parental smoking and cardiac structure and function in adulthood: the Cardiovascular Risk in Young Finns Study by Jukka Pihlman, Joel Nuotio, Suvi Rovio, Katja Pahkala, Saku Ruohonen, Eero Jokinen, Tomi P. Laitinen, David P. Burgner, Nina Hutri-Kähönen, Päivi Tossavainen, Leena Taittonen, Mika Kähönen, Jorma S.A. Viikari, Olli T. Raitakari, Costan G. Magnussen and Markus Juonala in Scandinavian Journal of Public Health

Vertaisarvioitu. Satunnaistetussa STRIP-tutkimuksessa 562 tervettä lasta sai tyydyttyneen rasvan saannin vähentämiseen tähtäävää ravitsemusneuvontaa kahdeksan kuukauden iästä alkaen 20 vuoden ikään asti, ja 545 saman ikäistä lasta seurattiin verrokkiryhmänä. Neuvonnan avulla tyydyttyneen rasvan saanti oli noin kaksi energiaprosenttia vähäisempää. Interventio- ja verrokkiryhmän lasten kasvussa, murrosiän tai neurologisessa kehityksessä ei havaittu eroja, mutta LDL-kolesterolipitoisuus oli merkitsevästi eli noin 0,1-0,2 mmol/l pienempi interventioryhmässä. Pojat hyötyivät interventiosta enemmän kuin tytöt. Tutkimusryhmästä riippumatta ravintotottumukset, liikunta ja tupakansavulle altistuminen heijastuivat valtimoterveyteen jo nuorena. Neuvonnan teho säilyi vielä kuusi vuotta sen päättymisen jälkeen. Tulokset ovat rohkaisevia ja muodostavat pohjan elinikäiselle, lapsuudesta alkavalle terveiden elintapojen neuvonnalle.

Supplemental material, sj-docx-4-sjp-10.1177_14034948221119611 for Exposure to parental smoking and cardiac structure and function in adulthood: the Cardiovascular Risk in Young Finns Study by Jukka Pihlman, Joel Nuotio, Suvi Rovio, Katja Pahkala, Saku Ruohonen, Eero Jokinen, Tomi P. Laitinen, David P. Burgner, Nina Hutri-Kähönen, Päivi Tossavainen, Leena Taittonen, Mika Kähönen, Jorma S.A. Viikari, Olli T. Raitakari, Costan G. Magnussen and Markus Juonala in Scandinavian Journal of Public Health

Supplemental material, sj-docx-1-sjp-10.1177_14034948221119611 for Exposure to parental smoking and cardiac structure and function in adulthood: the Cardiovascular Risk in Young Finns Study by Jukka Pihlman, Joel Nuotio, Suvi Rovio, Katja Pahkala, Saku Ruohonen, Eero Jokinen, Tomi P. Laitinen, David P. Burgner, Nina Hutri-Kähönen, Päivi Tossavainen, Leena Taittonen, Mika Kähönen, Jorma S.A. Viikari, Olli T. Raitakari, Costan G. Magnussen and Markus Juonala in Scandinavian Journal of Public Health

Supplemental material, sj-docx-2-sjp-10.1177_14034948221119611 for Exposure to parental smoking and cardiac structure and function in adulthood: the Cardiovascular Risk in Young Finns Study by Jukka Pihlman, Joel Nuotio, Suvi Rovio, Katja Pahkala, Saku Ruohonen, Eero Jokinen, Tomi P. Laitinen, David P. Burgner, Nina Hutri-Kähönen, Päivi Tossavainen, Leena Taittonen, Mika Kähönen, Jorma S.A. Viikari, Olli T. Raitakari, Costan G. Magnussen and Markus Juonala in Scandinavian Journal of Public Health

The specialty of clinical physiology was established in Finland about 20 years later than in Sweden. In the early 1960s, six physicians working mainly in preclinical departments of physiology were certified as specialists in clinical physiology. Many of the first specialists working in hospitals received specialist training in Sweden. The first hospital laboratories of clinical physiology were established in Tampere Central Hospital and Turku University Hospital in 1968. Thereafter, laboratories of clinical physiology were also established in Helsinki University Hospital and in Kuopio University Hospital and later also in most central hospitals. After clinical physiology laboratories were set up in hospitals and the number of specialists increased, the specialty gradually had more impact in clinical work. In the 1999 reform, nuclear medicine, which had previously been a subspecialty, was combined with clinical physiology. Arto Uusitalo was nominated the first professor of clinical physiology in Tampere University in 1984. The first professor in Helsinki University was Anssi Sovijärvi (1994), in Kuopio University Esko Länsimies (1998), and in Turku University Jaakko Hartiala (2003). Today, at four universities professors of clinical physiology and nuclear medicine lead research and medical education in this specialty. The hospital laboratories have modern equipment, which promotes multidisciplinary research with clinicians in fruitful collaboration. The Finnish Society of Clinical Physiology was founded in 1975. Today, it has about 160 members, about half of whom are specialists in the field. On its 40th anniversary, the Society decided to publish the history of clinical physiology in Finland. publishedVersion