Results 91 to 100 of about 2,544 (214)

INVESTIGATION OF THE RELATIONSHIP BETWEEN PHASE ANGLE AND MICRO-ALBUMINURIA IN TYPE 2 DIABETIC PATIENTS WITH A HISTORY OF MORE THAN 5 YEARS OF THE DISEASE IN ILAM PROVINCE, IRAN [PDF]

, 2017
Introduction: Phase angle is the ratio between cell mass and fat-free tissue and a cell health indicator which is measurable through bio-impedance analysis with 50 KHZ alternating current and can be interpreted as a voltage and a wave-form current ...
Ahmadi, M. R. H., Ghavam, S., Ghiasi, B., Javedani, M.   +3 more
core   +1 more source

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Jilong Chen, Xufeng Xi, Xiaoman Xu, Yao Lin   +3 more
wiley   +1 more source

Assessing Feasibility and Effectiveness of Pediatric Dental Provider’s Role in Oral Health and Prevention Education in the Care of Children with Leukemia [PDF]

, 2018
Purpose: Pediatric dentists could serve a role in care of children with leukemia. Oral sequelae of cancer therapies are well documented. The purpose of this study is to assess the feasibility and effectiveness of the pediatric dentist in the care of ...
Rustin, Hannah
core   +1 more source

Lobodontia‐Affected Teeth Exhibit Compromised Integrity and Enamel Defects: A Deep Phenotyping Study

Oral Diseases, Volume 31, Issue 11, Page 3115-3125, November 2025.
ABSTRACT Objective Lobodontia, a complex tooth disorder characterized by carnivore‐like dentition, presents unique clinical challenges. This study aimed to characterize the physical, mechanical, and ultrastructural properties of lobodontia teeth to inform precision treatment strategies.
Thanakorn Theerapanon, Narin Intarak, Sasiprapa Prommanee, Sunisa Somkana, Sirinya Kulvitit, Anucharte Srijunbarl, Junji Tagami, Thantrira Porntaveetus   +7 more
wiley   +1 more source

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]

, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A, Chesher, D, Darbar, U, Lachmann, RH, Murphy, E, Oddy, M, Ryan, A, Sayal, P, Sechi, A, Simister, C, Waters, A, Wedatilake, Y   +11 more
core   +1 more source

Oral Health Status of Children With a History of Liver Transplantation

Pediatric Transplantation, Volume 29, Issue 5, August 2025.
This study examines the oral health of children who have undergone liver transplantation, highlighting dental development delays despite similar caries rates compared to their healthy peers. Findings emphasize the need for integrated dental‐medical care, focusing on dental age assessment and early intervention to optimize oral health outcomes in this ...
Güler Burcu Senirkentli, Simge Polat, N. Sena Onder   +2 more
wiley   +1 more source

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +2 more sources

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A novel pathogenic, protein‐truncating variant p.(Ser352*) was detected in a disease‐causing FAM83H gene, which was in agreement with pathogenicity, co‐segregation analysis for ADHCAI. This variant is compared to the other protein‐truncating variants in the last coding exon and confirms that a shorter protein leads to more severe ADHCAI.
Rick Kamps, Herm Martens, Bart de Koning, Bert Smeets, Michel van Geel   +4 more
wiley   +1 more source

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

Oral Diseases, Volume 31, Issue 6, Page 1900-1908, June 2025.
ABSTRACT Introduction Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
Colomba Besa‐Witto, Ana Ortega‐Pinto, Sebastián Véliz, Marco Cornejo, Ignacia Fuentes, Francis Palisson, Susanne Krämer   +6 more
wiley   +1 more source

Taurodontism in oral-facial-digital syndrome

Journal of Oral Research and Review
Oro-facial-digital syndrome (OFDS) is one of the rare hereditary conditions involving various developmental anomalies of the oral cavity, face as well as digits.
Debasish Pramanick
doaj   +1 more source