Results 171 to 180 of about 1,493,342 (289)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Probable Rabson-Mendenhall syndrome presenting with acanthosis nigricans: a case report. [PDF]

Oxf Med Case Reports
Akhras M, Hmaidan M, Ghazal R, Alebrahem A, Alsaghir N.   +4 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Knowledge, Awareness and Practice Regarding the Spread of Oro-Dental Infections to the Head and Neck Region: A Comparative Cross-Sectional Survey Among Dental and Medical Students. [PDF]

Cureus
Shamlik NA, Sr A, Suragimath G, K A K, Patane VS, Patil SS.   +5 more
europepmc   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Publication pollution: The erosion of research ethics in the age of metrics. [PDF]

J Educ Health Promot
Kamat SB, Kamat MS, Kumar VV.
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Dental Ethics: Reviving the Lost

Advances in Human Biology, 2014
Khushboo Desai
doaj  

A self‐retaining mouth prop for intraoral access during periodontal surgery in rat models: A technical note

Animal Models and Experimental Medicine, EarlyView.
A mouth prop designed to mimic the oral cavity of rats was made that provided stable, self‐retaining retraction, thereby facilitating oral surgery on rodents. Compared to conventional methods, it decreased surgical time, operator fatigue, and slippage. Its use led to higher efficiency and fewer complications and it was cost effective to produce.
Saravanan Sampoornam Pape Reddy, Delfin Lovelina Francis, Vivek Kumar Thakur, Balaji Manohar, Shaili Pradhan, Shesh Rai   +5 more
wiley   +1 more source

Self-Perceived Confidence in Pediatric Dental Procedures Among Final-Year Dental Students. [PDF]

Int J Paediatr Dent
Kaplan C, Çalışkaner MÜ.
europepmc   +1 more source