Search Results - "Valanne, Leena"

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland by Laitinen, Eeva-Maria, Vaaralahti, Kirsi, Tommiska, Johanna, Eklund, Elina, Tervaniemi, Mari, Valanne, Leena, Raivio, Taneli

“…Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its…”
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Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations by Polinati, Padmini P, Valanne, Leena, Tyni, Tiina

“…Abstract Background: Malonyl-CoA decarboxylase (MLYCD, EC 4.1.1.9) deficiency is a rare autosomal recessive disorder that is widely diagnosed by neonatal…”
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Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings by Gaily, Eija, Anttonen, Anna‐Kaisa, Valanne, Leena, Liukkonen, Elina, Träskelin, Ann‐Liz, Polvi, Anne, Lommi, Markus, Muona, Mikko, Eriksson, Kai, Lehesjoki, Anna‐Elina

“…Summary Purpose Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN1A and PCHD19 mutations. Although…”
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Atypical sensory processing is common in extremely low gestational age children by Rahkonen, Petri, Lano, Aulikki, Pesonen, Anu-Katriina, Heinonen, Kati, Räikkönen, Katri, Vanhatalo, Sampsa, Autti, Taina, Valanne, Leena, Andersson, Sture, Metsäranta, Marjo

“…Aim Atypical sensory processing is common in children born extremely prematurely. We investigated sensory processing abilities in extremely low gestational age…”
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incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis by Leikola, Junnu, Koljonen, Virve, Valanne, Leena, Hukki, Jyri

“…Introduction This study was designed to determine the incidence of Chiari malformation (CM) in nonsyndromic single suture craniosynostosis (N-SSSC). Materials…”
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Warfarin Treatment Is Associated to Increased Internal Carotid Artery Calcification by Nuotio, Krista, Koskinen, Suvi M., Mäkitie, Laura, Tuimala, Jarno, Ijäs, Petra, Heikkilä, Hanna M., Saksi, Jani, Vikatmaa, Pirkka, Sorto, Pia, Kasari, Sonja, Paakkari, Ilari, Silvennoinen, Heli, Valanne, Leena, Mäyränpää, Mikko I., Soinne, Lauri, Kovanen, Petri T., Lindsberg, Perttu J.

“…Background: Long-term treatment with the vitamin K antagonist warfarin is widely used for the prevention of venous thrombosis and thromboembolism. However,…”
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Neurodevelopmental and neuroradiologic outcomes in patients with univentricular heart aged 5 to 7 years: Related risk factor analysis by Sarajuuri, Anne, MD, Jokinen, Eero, MD, PhD, Puosi, Riina, MSc, Eronen, Marianne, MD, PhD, Mildh, Leena, MD, Mattila, Ilkka, MD, PhD, Valanne, Leena, MD, PhD, Lönnqvist, Tuula, MD, PhD

“…Objective Despite improved survival and neurodevelopmental outcome, children with hypoplastic left heart syndrome and other forms of univentricular heart…”
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18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals by Linnankivi, Tarja, Tienari, Pentti, Somer, Mirja, Kähkönen, Marketta, Lönnqvist, Tuula, Valanne, Leena, Pihko, Helena

“…We studied 14 individuals with partial deletions of the long arm of chromosome 18, including terminal and interstitial de novo and inherited deletions. Study…”
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Bilateral Hippocampal Infarction as Etiology of Sudden and Prolonged Memory Loss by Marinkovic, Ivan, Lyytinen, Jukka, Valanne, Leena, Niinikuru, Riikka, Pekkonen, Eero

“…Sudden memory loss, with prolonged cognitive deterioration, clinically initially resembling a transitory global amnesia (TGA)-like episode, might be caused by…”
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Churg-Strauss Syndrome as an Unusual Aetiology of Stroke with Haemorrhagic Transformation in a Patient with No Cardiovascular Risk Factors by Sairanen, Tiina, Kanerva, Mari, Valanne, Leena, Lyytinen, Jukka, Pekkonen, Eero

“…Background: We present here a case of haemorrhagic brain infarction in a middle-aged and physically active male, who had never smoked. This case report aims to…”
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Pitt-Hopkins syndrome in two patients and further definition of the phenotype by Peippo, Maarit M, Simola, Kalle O J, Valanne, Leena K, Larsen, Andreo T, Kähkönen, Marketta, Auranen, Mari P, Ignatius, Jaakko

“…Pitt-Hopkins syndrome is a rare dysmorphic mental retardation syndrome marked by daytime spells of overbreathing interrupted by apnoea. The dysmorphism…”
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Progressive Stroke-Like Symptoms in a Patient with Sporadic Creutzfeldt-Jakob Disease by Lyytinen, Jukka, Sairanen, Tiina, Valanne, Leena, Salmi, Tapani, Paetau, Anders, Pekkonen, Eero

“…Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in which accumulation of a pathogenic isoform of prion protein (PrP Sc ) induces…”
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Neuroimaging supports the clinical diagnosis of methanol poisoning by HALAVAARA, Juha, VALANNE, Leena, SETÄLÄ, Kirsi

“…In addition to visual loss, methanol intoxication can cause brain damage that is revealed by neuroimaging. We report on a 34-year-old man whose visual acuity…”
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18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images by Linnankivi, Tarja T., Autti, Taina H., Pihko, S. Helena, Somer, Mirja S., Tienari, Pentti J., Wirtavuori, Kari O., Valanne, Leena K.

“…Purpose To study brain MRI findings in patients with 18q− syndrome and to correlate these findings with the results of the molecular breakpoint analysis…”
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Atypical Craniosynostosis with Torticollis and Neurological Symptoms : A Rhombencephalosynapsis Sequence by Koljonen, Virve, Leikola, Junnu, Valanne, Leena, Hukki, Jyri

“…Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital…”
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Response to editorial: Diagnosing carotid near-occlusion with 1-mm side-to-side asymmetry: a tough task made too easy by Koskinen, Suvi Maaria, Valanne, Leena, Soinne, Lauri

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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome by Oksanen, Virpi E, Arvio, Maria A, Peippo, Maarit M, Valanne, Leena K, Sainio, Kimmo O

“…Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical,…”
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Effect of Inhaled Xenon on Cerebral White Matter Damage in Comatose Survivors of Out-of-Hospital Cardiac Arrest: A Randomized Clinical Trial by Laitio, Ruut, Hynninen, Marja, Arola, Olli, Virtanen, Sami, Parkkola, Riitta, Saunavaara, Jani, Roine, Risto O, Grönlund, Juha, Ylikoski, Emmi, Wennervirta, Johanna, Bäcklund, Minna, Silvasti, Päivi, Nukarinen, Eija, Tiainen, Marjaana, Saraste, Antti, Pietilä, Mikko, Airaksinen, Juhani, Valanne, Leena, Martola, Juha, Silvennoinen, Heli, Scheinin, Harry, Harjola, Veli-Pekka, Niiranen, Jussi, Korpi, Kirsi, Varpula, Marjut, Inkinen, Outi, Olkkola, Klaus T, Maze, Mervyn, Vahlberg, Tero, Laitio, Timo

“…IMPORTANCE: Evidence from preclinical models indicates that xenon gas can prevent the development of cerebral damage after acute global hypoxic-ischemic brain…”
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Neurodevelopmental burden at age 5 years in patients with univentricular heart by Sarajuuri, Anne, Jokinen, Eero, Mildh, Leena, Tujulin, Anna-Mari, Mattila, Ilkka, Valanne, Leena, Lönnqvist, Tuula

“…Despite increasing survival, patients with hypoplastic left heart syndrome (HLHS) and other forms of functionally univentricular heart defects (UVHs) remain at…”
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Reactivity of sensorimotor oscillations is altered in children with hemiplegic cerebral palsy: A magnetoencephalographic study by Pihko, Elina, Nevalainen, Päivi, Vaalto, Selja, Laaksonen, Kristina, Mäenpää, Helena, Valanne, Leena, Lauronen, Leena

“…Cerebral palsy (CP) is characterized by difficulty in control of movement and posture due to brain damage during early development. In addition, tactile…”
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