Results 71 to 80 of about 1,777 (209)

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

open access: yesPeriodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer   +4 more
wiley   +1 more source

Condiciones sistémicas asociadas con periodontitis en la infancia y la adolescencia: una revisión de las posibilidades diagnósticas [PDF]

open access: yes, 2005
El término periodontitis se usa para describir un grupo de enfermedades multifactoriales que llevan a la destrucción progresiva de las estructuras que unen los dientes a los maxilares, el llamado aparato de soporte, que incluye el ligamento periodontal ...
Korostoff, Jonathan   +4 more
core   +1 more source

Alkaline Phosphatase-Positive Immortal Mouse Embryo Fibroblasts Are Cells in a Transitional Reprogramming State Induced to Face Environmental Stresses [PDF]

open access: yes, 2015
In this study, we report that immortal mouse embryonic fibroblasts (I-MEFs) have a baseline level of cells positive for alkaline phosphatase (AP?) staining.
El Baroudi, Mariama, Pellegrini, Marco
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation

open access: yesArchives of Endocrinology and Metabolism, 2020
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization.
Fernanda Salles Reis   +3 more
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang   +4 more
wiley   +1 more source

Baixa massa óssea em crianças e adolescentes [PDF]

open access: yes, 2006
Osteoporosis is a disease characterized by low bone mass and micro architectural alterations of bone tissue leading to enhanced bone fragility and increased fracture risk.
Borges, João Lindolfo C.   +1 more
core   +3 more sources

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia   +5 more
wiley   +1 more source

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

open access: yesOrphanet Journal of Rare Diseases, 2018
Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures ...
Anjali B. Daniel   +5 more
doaj   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

open access: yes, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V.   +2 more
core   +1 more source

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