Results 91 to 100 of about 59,375 (298)

Untangling the Most Probable Role for Vitamin D\u3csub\u3e3\u3c/sub\u3e in Autism [PDF]

, 2017
Recent studies indicate an important role for vitamin D3 in autism spectrum disorder (ASD), although its mechanism is not completely understood.
Godar, Dianne E., Merrill, Stephen J.
core   +1 more source

Orthopedic management of the extremities in patients with Morquio A syndrome. [PDF]

, 2014
BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature,
Bache, C Edward, Harmatz, Paul R, Jester, Andrea, Mackenzie, William G, Shediac, Renée, Thacker, Mihir M, White, Klane K   +6 more
core   +1 more source

Swiss Recommendations for the Perinatal Care of Extremely Low Gestational Age Neonates

Acta Paediatrica, EarlyView.
ABSTRACT Aim To revise the 2011 Swiss recommendations for the perinatal care of extremely low gestational age neonates (ELGANs). Methods Based on review of recent literature, experts from various medical specialties involved in the perinatal care of ELGANs made suggestions for revisions.
Thomas M. Berger, Markus Hodel, Giancarlo Natalucci, Mark Adams, Jean‐Claude Fauchère, on behalf of the Swiss Working Group on Perinatal Care of ELGANs, Mark Adams, Thomas M. Berger, Christine Diebold, Barbara Dinten, Jean‐Claude Fauchère, Deborah Gubler, Maya Hendriks, Markus Hodel, Christian Kind, Begoña Martinez de Tejada, Giancarlo Natalucci, Riccardo E. Pfister, Sven Schulzke, Daniel Surbek, Anita C. Truttmann   +20 more
wiley   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples

BMC Infectious Diseases
Background The human papillomavirus (HPV) infection may affect the miRNA expression pattern during cervical cancer (CC) development. To demonstrate the association between high-risk HPVs and the development of cervix dysplasia, we examined the expression
Ali Dehghani, Fardin Khajepour, Mohammad Dehghani, Ehsan Razmara, Mohammadreza Zangouey, Maryam Fekri Soofi Abadi, Reza Bahram Abadi Nezhad, Shahriar Dabiri, Masoud Garshasbi   +8 more
doaj   +1 more source

Relationship between cytological and histological findings in patients from an Amazonian hospital in Peru

Universidad Médica Pinareña, 2020
Introduction: cervical cancer remains one of the leading causes of cancer-related deaths worldwide. Objectives: to describe the positive cytological and histopathological findings in patients with cervical cancer. Method: an observational, descriptive,
Washington Ortiz-Uribe, Sebastian Iglesias-Osores, Arturo Rafael-Heredia   +2 more
doaj  

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Sensitivity and Specificity of P16 Immunohistochemistry in Diagnosis of Dysplastic Neoplastic Changes in Cervix

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2009
BACKGROUND AND OBJECTIVE: Cervical cancer is the second most common cancer in women that early diagnosis of its preneoplastic lesion can reduce cancer development.
M Sharbatdaran,, SH Shafaee, M Zeinalzadeh, H Ranjbar, B Jahed   +4 more
doaj  

Increased risk of cervical dysplasia in females with autoimmune conditions-Results from an Australia database linkage study.

PLoS ONE, 2020
BackgroundAutoimmune conditions (AICs) and/or their treatment may alter risk of human papilloma virus (HPV) infection and females with AICs are therefore at an increased risk of cervical dysplasia.
Emma Foster, Michael J Malloy, Vilija G Jokubaitis, C David H Wrede, Helmut Butzkueven, Joe Sasadeusz, Sharon Van Doornum, Finlay Macrae, Gary Unglik, Julia M L Brotherton, Anneke van der Walt   +10 more
doaj   +1 more source