scholarly journals Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

2021 ◽  
pp. 1-5
Author(s):  
Suzena Masih ◽  
Amita Moirangthem ◽  
Shubha R. Phadke
Keyword(s):  
Weight Gain ◽  
Mitochondrial Myopathy ◽  
Cellular Growth ◽  
Lipid Homeostasis ◽  
Biological Functions ◽  
Coding Sequences ◽  
Whole Exome ◽  
Missense Variation ◽  
Progressive Neurodegeneration ◽  
Poor Weight Gain

The patatin-like protein family plays an important role in various biological functions including lipid homeostasis, cellular growth, and signaling. Conserved across species, the patatin domain is shared by all 9 members of the PNPLA family without redundancy in the coding sequences. The defective function of PNPLA2, PNPLA6, and PNPLA9 are known to cause mitochondrial-related neurodegeneration. Recently, PNPLA8 has been associated with mitochondrial myopathy and poor weight gain with lactic acidosis in 3 unrelated families. Using whole-exome sequencing, we identified a homozygous novel missense variation c.1874A>G in the patatin domain of PNPLA8. The patient had prenatal-onset severe and progressive neurodegeneration with mortality in infancy.

Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations

2021 ◽  
Vol 14 (1) ◽  
pp. e237799
Author(s):  
Allison Lamond ◽  
David Buckley ◽  
Jennifer O'Dea ◽  
Lesley Turner
Keyword(s):  
Weight Gain ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Presentation ◽  
Congenital Myasthenic Syndrome ◽  
Vesicular Acetylcholine Transporter ◽  
Rare Form ◽  
Whole Exome ◽  
Myasthenic Syndrome ◽  
Poor Weight Gain

This report describes the variation in presentation of two unrelated patients found to have a rare form of presynaptic congenital myasthenic syndrome. Both patients presented with hypotonia, ptosis, poor weight gain and apneic episodes. Through whole exome sequencing, our patients were found to have the same likely pathogenic biallelic variants in W315X and I200N of SLC18A3, encoding vesicular acetylcholine transporter (VAChT). These specific variants in SLC18A3 have not been previously described in the literature. We illustrate the variety in clinical presentation and course of children with mutations in SLC18A3, leading to presynaptic congenital myasthenic syndrome through VAChT deficiency.

scholarly journals Identification of the Active Ingredient and Beneficial Effects of Vitex rotundifolia Fruits on Menopausal Symptoms in Ovariectomized Rats

Biomolecules ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1033
Author(s):  
Ji Hwan Lee ◽  
Sullim Lee ◽  
Quynh Nhu Nguyen ◽  
Hung Manh Phung ◽  
Myoung-Sook Shin ◽  
...  
Keyword(s):  
Weight Gain ◽  
Body Weight Gain ◽  
Animal Experiments ◽  
Ovariectomized Rats ◽  
Biological Functions ◽  
Menopausal Syndrome ◽  
Active Constituents ◽  
Mcf 7

Estrogen replacement therapy is a treatment to relieve the symptoms of menopause. Many studies suggest that natural bioactive ingredients from plants resemble estrogen in structure and biological functions and can relieve symptoms of menopause. The fruit of V. rotundifolia, called “Man HyungJa” in Korean, is a traditional medicine used to treat headache, migraine, eye pain, neuralgia, and premenstrual syndrome in Korea and China. The aim of the present study was to confirm that V. rotundifolia fruit extract (VFE) exerts biological functions similar to those of estrogen in menopausal syndrome. We investigated its in vitro effects on MCF-7 cells and in vivo estrogen-like effects on weight gain and uterine contraction in ovariectomized rats. Using the polar extract, the active constituents of VFE (artemetin, vitexicarpin, hesperidin, luteolin, vitexin, and vanillic acid) with estrogen-like activity were identified in MCF-7 cells. In animal experiments, the efficacy of VFE in ameliorating body weight gain was similar to that of estrogen, as evidenced from improvements in uterine atrophy. Vitexin and vitexicarpin are suggested as the active constituents of V. rotundifolia fruits.

scholarly journals The Gut Microbiome Derived From Anorexia Nervosa Patients Impairs Weight Gain and Behavioral Performance in Female Mice

Endocrinology ◽  
2019 ◽  
Vol 160 (10) ◽  
pp. 2441-2452 ◽  
Author(s):  
Tomokazu Hata ◽  
Noriyuki Miyata ◽  
Shu Takakura ◽  
Kazufumi Yoshihara ◽  
Yasunari Asano ◽  
...  
Keyword(s):  
Body Weight ◽  
Anorexia Nervosa ◽  
Weight Gain ◽  
Food Intake ◽  
Brain Stem ◽  
Body Weight Gain ◽  
Field Tests ◽  
Compulsive Behavior ◽  
The Brain ◽  
Poor Weight Gain

Abstract Anorexia nervosa (AN) results in gut dysbiosis, but whether the dysbiosis contributes to AN-specific pathologies such as poor weight gain and neuropsychiatric abnormalities remains unclear. To address this, germ-free mice were reconstituted with the microbiota of four patients with restricting-type AN (gAN mice) and four healthy control individuals (gHC mice). The effects of gut microbes on weight gain and behavioral characteristics were examined. Fecal microbial profiles in recipient gnotobiotic mice were clustered with those of the human donors. Compared with gHC mice, gAN mice showed a decrease in body weight gain, concomitant with reduced food intake. Food efficiency ratio (body weight gain/food intake) was also significantly lower in gAN mice than in gHC mice, suggesting that decreased appetite as well as the capacity to convert ingested food to unit of body substance may contribute to poor weight gain. Both anxiety-related behavior measured by open-field tests and compulsive behavior measured by a marble-burying test were increased only in gAN mice but not in gHC mice. Serotonin levels in the brain stem of gAN mice were lower than those in the brain stem of gHC mice. Moreover, the genus Bacteroides showed the highest correlation with the number of buried marbles among all genera identified. Administration of Bacteroides vulgatus reversed compulsive behavior but failed to exert any substantial effect on body weight. Collectively, these results indicate that AN-specific dysbiosis may contribute to both poor weight gain and mental disorders in patients with AN.

Low Birth Weight and Subsequent Poor Weight Gain

2014 ◽  
Vol 28 (4) ◽  
pp. 350-356 ◽  
Author(s):  
Jeannie Rodriguez ◽  
Marti Rice
Keyword(s):  
Weight Gain ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Poor Weight Gain

scholarly journals Implementing higher oxygen saturation targets reduced the impact of poor weight gain as a predictor for retinopathy of prematurity

2017 ◽  
Vol 107 (5) ◽  
pp. 767-773 ◽  
Author(s):  
Pia Lundgren ◽  
Anna-Lena Hård ◽  
Åsa Wilde ◽  
Chatarina Löfqvist ◽  
Lois E. H. Smith ◽  
...  
Keyword(s):  
Weight Gain ◽  
Oxygen Saturation ◽  
Retinopathy Of Prematurity ◽  
The Impact ◽  
Poor Weight Gain

scholarly journals A Decade of Mighty Lipophagy: What We Know and What Facts We Need to Know?

2021 ◽  
Vol 2021 ◽  
pp. 1-18
Author(s):  
Muhammad Babar Khawar ◽  
Muddasir Hassan Abbasi ◽  
Mussarat Rafiq ◽  
Naila Naz ◽  
Rabia Mehmood ◽  
...  
Keyword(s):  
Cell Death ◽  
Lipid Droplets ◽  
Lysosomal Enzymes ◽  
Lipid Homeostasis ◽  
Cellular Lipid ◽  
Biological Functions ◽  
Lysosomal Function ◽  
Selective Autophagy ◽  
Cellular Components ◽  
Different Levels

Lipids are integral cellular components that act as substrates for energy provision, signaling molecules, and essential constituents of biological membranes along with a variety of other biological functions. Despite their significance, lipid accumulation may result in lipotoxicity, impair autophagy, and lysosomal function that may lead to certain diseases and metabolic syndromes like obesity and even cell death. Therefore, these lipids are continuously recycled and redistributed by the process of selective autophagy specifically termed as lipophagy. This selective form of autophagy employs lysosomes for the maintenance of cellular lipid homeostasis. In this review, we have reviewed the current literature about how lipid droplets (LDs) are recruited towards lysosomes, cross-talk between a variety of autophagy receptors present on LD surface and lysosomes, and lipid hydrolysis by lysosomal enzymes. In addition to it, we have tried to answer most of the possible questions related to lipophagy regulation at different levels. Moreover, in the last part of this review, we have discussed some of the pathological states due to the accumulation of these LDs and their possible treatments under the light of currently available findings.

Gastroesophageal Reflux and Prokinetic Agents

2005 ◽  
Vol 24 (2) ◽  
pp. 51-58 ◽  
Author(s):  
Davita Hammer
Keyword(s):  
Weight Gain ◽  
Gastroesophageal Reflux ◽  
Lower Esophageal Sphincter ◽  
Preterm Infants ◽  
Aspiration Pneumonia ◽  
Main Mechanism ◽  
Term Infants ◽  
Gastric Contents ◽  
Esophageal Sphincter ◽  
Poor Weight Gain

GASTROESOPHAGEAL REFLUX (GER), a common problem in preterm and term infants, occurs when there is retrograde movement of gastric contents into the esophagus. The severity of the reflux is related to the height of the gastric contents up into the esophagus or the oral pharynx. Transient lower esophageal sphincter relaxation is the main mechanism thought to be responsible for GER in infants.1–3In a study conducted by Marino and associates, approximately 60 percent of preterm infants were affected by reflux.4GER is associated with irritability, apnea and bradycardia, poor weight gain, aspiration pneumonia, and esophagitis.2,5–7

EFFECTS OF MATERNAL NUTRITION ON THE HUMAN FETUS

PEDIATRICS ◽  
1973 ◽  
Vol 52 (4) ◽  
pp. 494-503
Author(s):  
Richard L. Naeye ◽  
William Blanc ◽  
Cheryl Paul
Keyword(s):  
Body Weight ◽  
Weight Gain ◽  
Maternal Nutrition ◽  
Cellular Growth ◽  
Late Gestation ◽  
Third Trimester ◽  
Organ Growth ◽  
Maternal Undernutrition ◽  
The Third ◽  
Body Organ

In a study of 467 gestations maternal stature had little correlation with fetal growth but mother's pregravid body weight as well as weight gain and low-calorie diets during pregnancy did have such a correlation. Maternal undernutrition before the third trimester had little or no influence on fetal body, organ, and cellular growth while such effects were pronounced in late gestation. Fetal body and organ growth improved with successive pregnancies except in the most poorly nourished mothers, whose successive neonates became more growth retarded.

Chapter 7 Cystic fibrosis: poor weight gain

2008 ◽  
Author(s):  
Jeremy Hull ◽  
Julian Forton ◽  
Anne H. Thompson
Keyword(s):  
Cystic Fibrosis ◽  
Weight Gain ◽  
Poor Weight Gain
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