Lysosomes and Lysosomal Storage Diseases
نویسنده
چکیده
157 in the delivery room, and the normal newborn with a number of very pertinent sections about the situations in which the neonate finds himself in most serious trouble. The chapter on assessment of gestational age, for example, has both pictures and charts which will allow the physician to compare the physical examination in the patient with established standards. Pictures are of excellent quality and the discussions that accompany them are quite helpful. The same can be said of the photographs and the discussion in the chapter on physical examination. The chapter on infant nutrition is highly practical and helpful. It presents a balanced view of the proper nutrition of the infant, including the practical aspects of breast feeding. Neonatal emergencies are covered succinctly but clearly. Persistent fetal circulation, a potentially lethal problem, is well covered, as well as other respiratory problems such as apnea and respiratory distress. The chapter discussing caring for the family after a perinatal death is particularly helpful and should be read by both obstetricians and pediatricians who care for pregnant women and neonates. It is a sensitive and carefully thought-out discussion of a little-recognized aspect of pediatric care. The discussion on transport of the ill infant to a tertiary center and the most common urgent situations and their acute management are clearly and succinctly discussed. Surgical emergencies such as bowel obstruction, esophageal atresia, gastroschisis, and necrotizing enterocolitis are also presented. The second section is devoted to procedural techniques. It begins with information on obtaining the simulators developed at Indiana University, which allow the practice of procedures without jeopardizing real infants. The section on procedures is thorough and the drawings are helpful, but it should not be construed as sufficient to read this and then be able to perform these procedures without practice on simulators or as a part of pediatric or neonatology training. The section on procedures, as the other sections, would be helpful to pediatricians who have been trained to do these procedures but do not use them frequently. They will also be helpful to pediatric housestaff in training who are learning these procedures and need a textbook to which to refer. This book will be of value in the hospital emergency room, for referral by emergency room physicians faced with a gravely ill or apneic neonate perhaps awaiting transfer to a tertiary center. The appendix, which contains prototypes of orders and protocols used …
منابع مشابه
Lysosomal storage diseases: heterogeneous group of disorders.
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioni...
متن کاملMolecular Therapy for Lysosomal Storage Diseases
Lysosomes are organella involving the catabolism of biomolecules extracellularly and intra‐ cellularly incorporated, which contain more than 60 distinct acidic hydrolases (lysosomal enzymes) and their co-factors. Lysosomal storage diseases (LSDs) are caused by germ-line gene mutations encoding lysosomal enzymes, their activator proteins, integral membrane proteins, cholesterol transporters and ...
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Lysosomes are cellular organelles primarily involved in degradation and recycling processes. During lysosomal exocytosis, a Ca²⁺-regulated process, lysosomes are docked to the cell surface and fuse with the plasma membrane (PM), emptying their content outside the cell. This process has an important role in secretion and PM repair. Here we show that the transcription factor EB (TFEB) regulates l...
متن کاملLipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release.
Lysosomal lipid accumulation, defects in membrane trafficking and altered Ca(2+) homoeostasis are common features in many lysosomal storage diseases. Mucolipin transient receptor potential channel 1 (TRPML1) is the principle Ca(2+) channel in the lysosome. Here we show that TRPML1-mediated lysosomal Ca(2+) release, measured using a genetically encoded Ca(2+) indicator (GCaMP3) attached directly...
متن کاملThe lysosome: from waste bag to potential therapeutic target.
Lysosomes are ubiquitous membrane-bound intracellular organelles with an acidic interior. They are central for degradation and recycling of macromolecules delivered by endocytosis, phagocytosis, and autophagy. In contrast to the rather simplified view of lysosomes as waste bags, nowadays lysosomes are recognized as advanced organelles involved in many cellular processes and are considered cruci...
متن کاملThe endoplasmic reticulum, not the pH gradient, drives calcium refilling of lysosomes
Impaired homeostasis of lysosomal Ca(2+) causes lysosome dysfunction and lysosomal storage diseases (LSDs), but the mechanisms by which lysosomes acquire and refill Ca(2+) are not known. We developed a physiological assay to monitor lysosomal Ca(2+) store refilling using specific activators of lysosomal Ca(2+) channels to repeatedly induce lysosomal Ca(2+) release. In contrast to the prevailing...
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عنوان ژورنال:
- The Yale Journal of Biology and Medicine
دوره 54 شماره
صفحات -
تاریخ انتشار 1981