Two mentally retarded girls with a small metacentric nonsatellite extrachromosome were examined. Probands were found to share many clinical features: asthenic constitution, microcephalia, low-set malformed ears, high arched palate, long fingers and toes, a wide gap between first and second toes, clinodactyly of the 1st and 5th fingers, scoliosis. The extrachromosome was unequivocally interpreted as an isochromosome for the short arm of chromosome 18. Review of 12 i (18p) cases permits characterizing a syndrome of tetrasomy 18p.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Repellency of Essential Oils and Plant-Derived Compounds Against Mosquitoes.
Insects
January 2025
Department of Biology, New Mexico State University, Las Cruces, NM 88003, USA.
Plant-based oils have a long history of use as insect repellents. In an earlier study, we showed that in a 10% concentration, geraniol, 2-phenylethl propionate, and the plant-based essential oils clove and cinnamon effectively protected from mosquito bites for over 60 min. To expand on this study, we reanalyzed our GC-MS data to identify the short organic constituents of these oils.
View Article and Find Full Text PDFEvolutionary and Structural Insights into the RNA Polymerase I A34 Protein Family: A Focus on Intrinsic Disorder and Phase Separation.
Genes (Basel)
January 2025
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Background: Eukaryotic RNA polymerase I consists of 12 or 11 core subunits and three dissociable subunits, Rrn3, A34, and A49. The A34 and A49 subunits exist as a heterodimer. In silico analysis of the A34 family of transcription factors demonstrates a commonly shared domain structure despite a lack of sequence conservation, as well as N-terminal and C-terminal disordered regions.
View Article and Find Full Text PDFSevere Lipoatrophy in a Growth Hormone Deficient Toddler Girl Treated with a Non-Pegylated Long-Acting Growth Hormone.
Children (Basel)
January 2025
Pediatric Research Center, New Children's Hospital, University of Helsinki, Helsinki University Hospital, 00290 Helsinki, Finland.
Background: Recombinant growth hormone (rhGH) has been used since 1985 to treat growth hormone (GH)-induced short stature, typically associated with transient adverse events. However, lipoatrophy, characterized by irreversible damage to subcutaneous fat, was first reported in 1999 and linked to antibody formation. In 2021, localized lipoatrophy was observed in 14.
View Article and Find Full Text PDFAllocation Predictability of Individual Assignments in Restricted Randomization Designs for Two-Arm Equal Allocation Trials.
Stat Med
February 2025
Medical University of South Carolina, Charleston, South Carolina, USA.
This manuscript derives the allocation predictability measured by the correct guess probability and the probability of being deterministic for individual treatment assignments, as well as the averages of a randomization sequence, based on the treatment imbalance transition matrix and the conditional allocation probability. The methods described are applicable to restricted randomization designs that satisfy the following criteria: (1) two-arm equal allocation, (2) restriction of maximum tolerated imbalance, and (3) conditional allocation probability fully determined by the observed current treatment imbalance. Analytical results indicate that, for two-arm equal allocation trials, allocation predictability alternates by the odd/even sequence order of the treatment assignment.
View Article and Find Full Text PDFIs WALANT Really Necessary in Outpatient Surgery?
J Pers Med
December 2024
Department of Orthopaedics and Traumatology, Universita' Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, 00168 Rome, Italy.
: The Wide Awake Local Anesthesia No Tourniquet (WALANT) technique has revolutionized outpatient hand surgery, enabling procedures such as carpal tunnel release and trigger finger release without a tourniquet. Its benefits include patient cooperation during surgery, especially for tendon repairs. However, WALANT has limitations, including a steep learning curve, longer operative preparation time, and risks such as digital ischemia and adrenaline-induced cardiac ischemia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!