Results 31 to 40 of about 387,749 (347)

Neuroendocrine cell hyperplasia of infancy (review of modern literature — 2018)

open access: yesZdorovʹe Rebenka, 2018
The review deals with the systematization of mo­dern world ideas about pulmonary neuroendocrine cells and a disease associated with their hyperplasia — neuroendocrine hyperplasia in infants. The pathogenesis, clinical and instrumental diagnostic criteria
O.L. Logvinova
doaj   +1 more source

Oculodentodigital dysplasia

open access: yesIndian Journal of Ophthalmology, 2016
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo),
Dharmil C Doshi   +3 more
openaire   +3 more sources

The skeletal dysplasias [PDF]

open access: yesGenetics in Medicine, 2010
The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah Krakow   +2 more
openaire   +2 more sources

Cleidocranial dysplasia

open access: yesLung India, 2010
Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities.
Dixit Ramakant, Dixit Kalpana, Paramez A
openaire   +3 more sources

Interstitial lungs diseases in infants: acinar, alveolar and alveolar capillary dysplasia (2018 review of modern literature)

open access: yesZdorovʹe Rebenka, 2018
The article presents a clinical сase of alveolar capillary dysplasia in a child aged 3 months. The discussion included terminological aspects, pathomorphological, diagnostic criteria of diffuse lung developmental disorders. Modern principles of treatment
O.L. Logvinova
doaj   +1 more source

A Semi-automatic Diagnosis of Hip Dysplasia on X-Ray Films

open access: yesFrontiers in Molecular Biosciences, 2020
Background: Diagnosis of hip joint plays an important role in early screening of hip diseases such as coxarthritis, heterotopic ossification, osteonecrosis of the femoral head, etc.
Guangyao Yang   +6 more
doaj   +1 more source

Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]

open access: yesClinical Case Reports, 2022
Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS ...
Manfred Nilius   +5 more
doaj   +1 more source

Modern concept of the brain-lung-thyroid syndrome and its pulmonary manifestations

open access: yesZdorovʹe Rebenka, 2018
This article is a review of the modern world literature on the brain-lung-thyroid syndrome in children. The authors focused on the etiology and features of ontogenesis of the involved organs in the presence of NKX2-1 gene mutation.
O.L. Logvinova, M.A. Gonchar
doaj   +1 more source

Ginsenoside Rb1 Lessens Gastric Precancerous Lesions by Interfering With β-Catenin/TCF4 Interaction

open access: yesFrontiers in Pharmacology, 2021
Background: Seeking novel and effective therapies for gastric precancerous lesions (GPL) is crucial to reducing the incidence of gastric cancer.
Jinhao Zeng   +12 more
doaj   +1 more source

A modern understanding of the surfactant protein mutations role in the formation of interstitial lung diseases in newborns and infants

open access: yesZdorovʹe Rebenka, 2018
The article presents a modern understanding of the components of the surfactant, the functions of non-serum proteins SP-A, SP-B, SP-C and SP-D. The history of the discovery of protein deficiencies SP-B, SP-C and ABCA3 is described.
O.L. Logvinova, M.A. Gonchar
doaj   +1 more source

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