Many cases of 7q deletion associated with mental retardation and multiple malformations have been described, nevertheless it is quite different to recognize common features among these infants. In this paper the cases of two female infants with uncommon facial features and 7q deletion are described. We also try to recognize the phenotypic features of this chromosomal disorder.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Winding up to wind down: designing the end of one's medical career with intentionality.
BMJ Lead
January 2025
University of Louisville Health Sciences Center, Louisville, Kentucky, USA.
Background: Physicians are planful beings, spending much time imagining and trying to design their ideal careers. Yet, despite actuarial expectations that physicians may spend almost two decades in retirement, it is paradoxical that little attention is generally given to designing an ideal retirement.
Methods: The coauthors are physicians in the latter parts of their careers who both teach leadership to physicians and have thought deeply about physician transitions, including retirement.
Patient Journey to Transthyretin Cardiac Amyloidosis Diagnosis - A Japanese Claims Database Study.
Circ J
January 2025
Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) in older adults. Delayed ATTR-CM diagnosis may result in more advanced symptoms. This study describes the journey of Japanese patients with ATTR-CM.
View Article and Find Full Text PDFArginase-1-specific T cells target and modulate tumor-associated macrophages.
J Immunother Cancer
January 2025
National Center for Cancer Immune Therapy (CCIT-DK), Department of Oncology, Herlev Hospital, Herlev, Denmark
Background: Arginase-1 (Arg1) expressing tumor-associated macrophages (TAMs) may create an immune-suppressive tumor microenvironment (TME), which is a significant challenge for cancer immunotherapy. We previously reported the existence of Arg1-specific memory T cells among peripheral blood mononuclear cells (PBMCs) and described that Arg-1-based immune modulatory vaccines (IMVs) control tumor growth and alter the M1/M2 macrophage ratio in murine models of cancer. In the present study, we investigated how Arg1-specific T cells can directly target TAMs and influence their polarization.
View Article and Find Full Text PDFDevelopment and Functions of MAIT Cells.
Annu Rev Immunol
January 2025
1Immunity and Cancer, INSERM U932, PSL University, Institut Curie, Paris, France; email:
Mucosal-associated invariant T (MAIT) cells are evolutionarily conserved T cells that recognize microbial metabolites. They are abundant in humans and conserved during mammalian evolution, which suggests that they have important nonredundant functions. In this article, we discuss the evolutionary conservation of MAIT cells and describe their original developmental process.
View Article and Find Full Text PDFThe landscape of family medicine in India - A cross-sectional survey study.
PLOS Glob Public Health
January 2025
Department of Family and Community Medicine, University of Toronto, Toronto, Canada.
Family medicine was recognized as a distinct specialty in India in the early 1980s, but it is at an early stage of implementation. There are few training programs, and little is known about family physicians' training, perceptions, and current practices. This paper describes the findings from the first national survey of family medicine in India.
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!