Search Results - "Valta, Helena"

Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease–A Prospective Study by Laakso, Saila, MD, PhD, Valta, Helena, MD, PhD, Verkasalo, Matti, MD, PhD, Toiviainen-Salo, Sanna, MD, PhD, Mäkitie, Outi, MD, PhD

“…Objective To evaluate peak bone mass attainment in children and adolescents with inflammatory bowel disease and to identify risk factors for suboptimal bone…”
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Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland by Viljakainen, Heli, Andersson-Assarsson, Johanna C, Armenio, Miriam, Pekkinen, Minna, Pettersson, Maria, Valta, Helena, Lipsanen-Nyman, Marita, Mäkitie, Outi, Lindstrand, Anna

“…The salivary α-amylase locus (AMY1) is located in a highly polymorphic multi allelic copy number variable chromosomal region. A recent report identified an…”
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Analysis of Clinical and Immunologic Phenotype in a Large Cohort of Children and Adults with Cartilage-hair Hypoplasia by Kostjukovits, Svetlana, MD, Klemetti, Paula, MD, PhD, Valta, Helena, MD, PhD, Martelius, Timi, MD, PhD, Notarangelo, Luigi D., MD, Seppänen, Mikko, MD, PhD, Taskinen, Mervi, MD, PhD, Mäkitie, Outi, MD, PhD

“…In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+…”
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Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study by Arponen, Heidi, Waltimo-Sirén, Janna, Valta, Helena, Mäkitie, Outi

“…Persisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta (OI). This…”
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Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta: a prospective pilot study by Arponen, Heidi, Bachour, Adel, Bäck, Leif, Valta, Helena, Mäkitie, Antti, Mäkitie, Outi, Waltimo-Sirén, Janna

“…Obstructive sleep apnea (OSA) is prevalent in individuals with Osteogenesis imperfecta (OI). To date, no study has investigated treatment of OSA in…”
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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia by Chang, Hae Ryung, Cho, Sung Yoon, Lee, Jae Hoon, Lee, Eunkyung, Seo, Jieun, Lee, Hye Ran, Cavalcanti, Denise P., Mäkitie, Outi, Valta, Helena, Girisha, Katta M., Lee, Chung, Neethukrishna, Kausthubham, Bhavani, Gandham S., Shukla, Anju, Nampoothiri, Sheela, Phadke, Shubha R., Park, Mi Jung, Ikegawa, Shiro, Wang, Zheng, Higgs, Martin R., Stewart, Grant S., Jung, Eunyoung, Lee, Myeong-Sok, Park, Jong Hoon, Lee, Eun A., Kim, Hongtae, Myung, Kyungjae, Jeon, Woosung, Lee, Kyoungyeul, Kim, Dongsup, Kim, Ok-Hwa, Choi, Murim, Lee, Han-Woong, Kim, Yonghwan, Cho, Tae-Joon

“…SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the…”
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Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia by Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya

“…Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400…”
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Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study by Arponen, Heidi, Bachour, Adel, Bäck, Leif, Valta, Helena, Mäkitie, Antti, Waltimo-Sirén, Janna, Mäkitie, Outi

“…Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI…”
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A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia by Vakkilainen, Svetlana, Mäkitie, Riikka, Klemetti, Paula, Valta, Helena, Taskinen, Mervi, Husebye, Eystein Sverre, Mäkitie, Outi

“…Mutations in , encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms…”
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Altered Osteocyte-Specific Protein Expression in Bone after Childhood Solid Organ Transplantation by Pereira, Renata C, Valta, Helena, Tumber, Navdeep, Salusky, Isidro B, Jalanko, Hannu, Mäkitie, Outi, Wesseling Perry, Katherine

“…Bone fragility is common post solid organ transplantation but little is known about bone pathology on a tissue level. Abnormal osteocytic protein expression…”
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High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia by Kostjukovits, Svetlana, MD, Klemetti, Paula, MD, PhD, Föhr, Anna, MD, Kajosaari, Merja, MD, PhD, Valta, Helena, MD, PhD, Taskinen, Mervi, MD, PhD, Toiviainen-Salo, Sanna, MD, PhD, Mäkitie, Outi, MD, PhD

“…In patients with immunodeficiency, lung disease such as BE or parenchymal changes contribute to poorer prognosis.6 Out of 8 previously reported patients with…”
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Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort by Utriainen, Pauliina, Valta, Helena, Björnsdottir, Sigridur, Mäkitie, Outi, Horemuzova, Eva

“…Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic mutation. McCune-Albright…”
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Prevalence of vertebral compression fractures and associated factors in children and adolescents with severe juvenile idiopathic arthritis by Markula-Patjas, Kati P, Valta, Helena L, Kerttula, Liisa I, Soini, Irma H, Honkanen, Visa E A, Toiviainen-Salo, Sanna-Maria, Mäkitie, Outi M

“…Vertebral fractures occur in patients with juvenile idiopathic arthritis (JIA), but data on their frequency and causes are scarce. Our cross-sectional study…”
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Donor-specific HLA antibodies and graft function in children after renal transplantation by Miettinen, Jenni, Peräsaari, Juha, Lauronen, Jouni, Qvist, Erik, Valta, Helena, Pakarinen, Mikko, Merenmies, Jussi, Jalanko, Hannu

“…Background The presence of circulating donor-specific human leukocyte antigen antibodies (HLA-DSA) has been associated with chronic antibody-mediated…”
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Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis by VALTA, Helena, LAHDENNE, Pekka, JALANKO, Hannu, AALTO, Kristiina, MÄKITIE, Outi

“…OBJECTIVE: To evaluate bone health and growth and their correlates in glucocorticoid (GC)-treated pediatric patients with juvenile idiopathic arthritis (JIA)…”
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Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia by Costantini, Alice, Alm, Jessica J., Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N., Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J., Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

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The Thoracic and Lumbar Spine in Severe Juvenile Idiopathic Arthritis: Magnetic Resonance Imaging Analysis in 50 Children by Toiviainen-Salo, Sanna, MD, PhD, Markula-Patjas, Kati, MD, Kerttula, Liisa, MD, PhD, Soini, Irma, MD, PhD, Valta, Helena, MD, PhD, Mäkitie, Outi, MD, PhD

“…Objective To determine the prevalence of vertebral fractures as a complication of juvenile idiopathic arthritis (JIA). Study design This cross-sectional study…”
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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort by Rajala, Katri, Kasanen, Ellamaija, Toiviainen‐Salo, Sanna, Valta, Helena, Mäkitie, Outi, Stefanovic, Vedran, Tanner, Laura

“…Objective This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the…”
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Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation by Gorvin, Caroline M, Hannan, Fadil M, Cranston, Treena, Valta, Helena, Makitie, Outi, Schalin‐Jantti, Camilla, Thakker, Rajesh V

“…ABSTRACT G‐protein subunit α‐11 (Gα11) couples the calcium‐sensing receptor (CaSR) to phospholipase C (PLC)‐mediated intracellular calcium (Ca2+i) and…”
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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults by Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi

“…ABSTRACT WNT proteins comprise a 19‐member glycoprotein family that act in several developmental and regenerative processes. In bone, WNT proteins regulate…”
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