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https://www.readbyqxmd.com/read/30323638/obesity-management-in-prader-willi-syndrome-current-perspectives
#1
REVIEW
Antonino Crinò, Danilo Fintini, Sarah Bocchini, Graziano Grugni
Prader-Willi syndrome (PWS) is a complex multisystem disorder due to the absent expression of the paternally active genes in the PWS critical region on chromosome 15 (15q11.2-q13). The syndrome is considered the most common genetic cause of obesity, occurring in 1:10,000-1:30,000 live births. Its main characteristics include neonatal hypotonia, poor feeding, and lack of appetite in infancy, followed by weight gain, lack of satiety, and uncontrolled appetite, frequently after the age of 2-3 years. The clinical picture includes short stature, multiple endocrine abnormalities (hypogonadism, growth hormone/insulin-like growth factor-I axis dysfunction, hypothyroidism, central adrenal insufficiency), dysmorphic features, scoliosis, osteoporosis, mental retardation, and behavioral and psychiatric problems...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/30302899/schaaf-yang-syndrome-overview-report-of-78-individuals
#2
John McCarthy, Philip J Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P Schaaf
Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and adolescence. Here, we describe the phenotype of an international cohort of 78 patients with nonsense or frameshift mutations in MAGEL2...
October 10, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30238631/the-role-of-obesity-in-the-fatal-outcome-of-schaaf-yang-syndrome-early-onset-morbid-obesity-in-a-patient-with-a-magel2-mutation
#3
Lotte Kleinendorst, Graciela Pi Castán, Alfonso Caro-Llopis, Elles M J Boon, Mieke M van Haelst
Schaaf-Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader-Willi syndrome. It is caused by mutations on the paternal allele of the MAGEL2 gene, a gene that has been mapped in the Prader-Willi critical region. Here, we present an infant with SYS who sadly died because of the combination of hypotonia, sleep apnea, and obesity. A heterozygous premature stop mutation in MAGEL2 was identified in the patient. The main factors reported in the mortality of SYS are lethal arthrogryposis multiplex congenita, fetal akinesia, and pulmonary problems...
September 20, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30124848/prader-willi-locus-snord116-rna-processing-requires-an-active-endogenous-allele-and-neuron-specific-splicing-by-rbfox3-neun
#4
Rochelle L Coulson, Weston T Powell, Dag H Yasui, Gayathri Dileep, James Resnick, Janine M LaSalle
Prader-Willi syndrome (PWS), an imprinted neurodevelopmental disorder characterized by metabolic, sleep, and neuropsychiatric features, is caused by the loss of paternal SNORD116, containing only noncoding RNAs. The primary SNORD116 transcript is processed into small nucleolar RNAs (snoRNAs), which localize to nucleoli, and their spliced host gene 116HG, which is retained at its site of transcription. While functional complementation of the SNORD116 noncoding RNAs is a desirable goal for treating PWS, the mechanistic requirements of SNORD116 RNA processing are poorly understood...
August 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29972438/natural-history-of-39-patients-with-achondroplasia
#5
Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly...
July 2, 2018: Clinics
https://www.readbyqxmd.com/read/29960212/correspondence-of-maternal-and-paternal-perception-of-school-aged-children-s-sleep-with-in-home-sleep-electroencephalography-and-diary-reports-of-children-s-sleep
#6
Natalie Urfer-Maurer, Serge Brand, Edith Holsboer-Trachsler, Alexander Grob, Peter Weber, Sakari Lemola
OBJECTIVE: Parents are often the first to report children's sleep difficulties. The aim of the present study was to evaluate the accuracy of parent reports by examining the correspondence of maternal and paternal reports of children's sleep with in-home electroencephalography (EEG) sleep assessment and sleep diary reports. METHODS: A total of 143 children (57 formerly very preterm born children) aged 7-12 years underwent one night of in-home sleep-EEG; mothers and fathers reported children's sleep-related behavior by using the German version of the Children's Sleep Habits Questionnaire, and children and parents together completed a sleep diary of children's sleep...
August 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29800646/cognitive-deficits-in-the-snord116-deletion-mouse-model-for-prader-willi-syndrome
#7
REVIEW
Anna Adhikari, Nycole A Copping, Beth Onaga, Michael C Pride, Rochelle L Coulson, Mu Yang, Dag H Yasui, Janine M LaSalle, Jill L Silverman
Prader-Willi syndrome (PWS) is an imprinted neurodevelopmental disease caused by a loss of paternal genes on chromosome 15q11-q13. It is characterized by cognitive impairments, developmental delay, sleep abnormalities, and hyperphagia often leading to obesity. Clinical research has shown that a lack of expression of SNORD116, a paternally expressed imprinted gene cluster that encodes multiple copies of a small nucleolar RNA (snoRNA) in both humans and mice, is most likely responsible for many PWS symptoms seen in humans...
May 23, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29713532/lifestyle-causes-of-male-infertility
#8
Damayanthi Durairajanayagam
Objective: To examine the potential effects of lifestyle factors on male reproductive health. Evidence of a global decline in human sperm quality over recent decades has been accumulating. Environmental, occupational, and modifiable lifestyle factors may contribute to this decline. This review focuses on key lifestyle factors that are associated with male infertility such as smoking cigarettes, alcohol intake, use of illicit drugs, obesity, psychological stress, advanced paternal age, dietary practices, and coffee consumption...
March 2018: Arab Journal of Urology
https://www.readbyqxmd.com/read/29712505/the-weight-of-fatherhood-identifying-mechanisms-to-explain-paternal-perinatal-weight-gain
#9
Darby Saxbe, Geoffrey W Corner, Mona Khaled, Katelyn Horton, Brian Wu, Hannah Lyden Khoddam
Men appear to gain weight during the transition to parenthood, and fathers are heavier than non-fathers. Paternal perinatal weight gain may set weight trajectories in midlife and have long-term health implications. Since men do not undergo the physical demands of pregnancy and breastfeeding, the specific mechanisms underlying weight gain in new fathers warrant investigation. This review aims to stimulate research on paternal perinatal weight gain by suggesting testable potential mechanisms that (1) show change across the transition to parenthood and (2) play a role in weight and body composition...
September 2018: Health Psychology Review
https://www.readbyqxmd.com/read/29574428/thyrotoxic-crisis-as-an-acute-clinical-presentation-in-a-child
#10
Adam Bonfield, Savitha Shenoy
A previously well, 4-year-old girl presented with a 4-6 weeks' history of increased appetite, weight loss, tiredness, sleep difficulty, excessive sweating, swelling in the neck and new-onset 'prominent, protruding eyes.' Family history revealed paternal grandmother receiving treatment for hyperthyroidism. Clinical assessment demonstrated features of thyrotoxicosis (tachycardia, warm peripheries, small smooth goitre with no nodules, exophthalmos). TFT (Free T4=101 pmol/L, thyroid-stimulating hormone <0...
March 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29544195/postnatal-anxiety-prevalence-predictors-and-effects-on-development-a-narrative-review
#11
Tiffany Field
The increasing prevalence of postnatal anxiety highlights the need for summarizing the recent research on this condition to inform screening and intervention efforts. This narrative review of the literature was derived from a search on PubMed and PsycINFO for papers published since 2010. The demographic risk factors for postnatal anxiety include being a young mother, having more education and being employed. Childbirth risk factors include being primiparous in one sample and multiparous in another, caesarean delivery, fear of the birth and of death during delivery, lack of control during labor, low self-confidence for the delivery and the delivery staff, and premature delivery...
May 2018: Infant Behavior & Development
https://www.readbyqxmd.com/read/29541138/prevalence-of-overweight-in-hong-kong-chinese-children-its-associations-with-family-early-life-development-and-behaviors-related-factors
#12
Jing Jing Wang, Yang Gao, Patrick W C Lau
Background: Childhood overweight is a crucial public health concern. Recognizing its associated factors can facilitate the establishment of effective prevention strategies. The aim of the present study was to examine the prevalence of overweight in Hong Kong Chinese children and explore its influential factors in relation to family, early-life development and behavior-related issues. Methods: A cross-sectional study was conducted in 894 primary school students aged 9-12 years (50...
December 2017: Journal of Exercise Science and Fitness
https://www.readbyqxmd.com/read/29377098/pcdh19-related-epilepsy-is-associated-with-a-broad-neurodevelopmental-spectrum
#13
Lacey Smith, Nilika Singhal, Christelle M El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." METHODS: We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and included individuals with pathogenic or potentially pathogenic variants...
March 2018: Epilepsia
https://www.readbyqxmd.com/read/29325544/prevalence-and-associated-factors-of-wheezing-illnesses-of-children-aged-three-to-five-years-living-in-under-served-settlements-of-the-colombo-municipal-council-in-sri-lanka-a-cross-sectional-study
#14
Ruwanika Seneviratne, Nalika S Gunawardena
BACKGROUND: A rising trend in Sri Lanka for asthma and wheezing illness is observed with higher morbidity in younger children and a paucity of related research. 'Under-served settlements' (USS) of Colombo Municipal Council (CMC) have poor living environments conducive to childhood wheezing. The objective was to describe the prevalence and associated factors of wheezing illnesses of three to five year old children living in low-income settlements in CMC. METHODS: A cross-sectional study was conducted on 460 three to five year old children and their caregivers using cluster sampling among residents of two randomly selected USSs of CMC...
January 11, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29301586/effectiveness-of-a-psycho-educational-intervention-to-prevent-postpartum-parental-distress-and-enhance-infant-well-being-study-protocol-of-a-randomized-controlled-trial
#15
Marjolein Missler, Roseriet Beijers, Jaap Denissen, Annemieke van Straten
BACKGROUND: The first months after birth can be challenging for parents, leading to parental distress and decreased well-being. Parents with high levels of distress are found to respond less adequately and sensitively to their infant, which in turn affects infant well-being and health. The goal of this study is to examine the effectiveness of a psycho-educational intervention to prevent postpartum parental distress and enhance the quality of caregiving and infant well-being. In contrast to other interventions, this intervention will be (1) offered already before birth, (2) offered to all parents-to-be, regardless of their risk of postpartum distress, and (3) include fathers...
January 4, 2018: Trials
https://www.readbyqxmd.com/read/29290440/short-communication-two-dominant-paternal-lineages-for-north-american-jersey-artificial-insemination-sires
#16
C D Dechow, W S Liu, J S Idun, B Maness
Jersey cattle are the second most prominent breed in the United States and represent a growing portion of the dairy cow population in the United States. The objectives of our study were to determine the male lineages of Jersey sires with official genetic evaluations and to determine whether there are differences in sire conception rate among lineages. Paternal lineages back to the 1950s were extracted from genetic evaluation files of the Council on Dairy Cattle Breeding (CDCB, Bowie, MD) for all sires with an official United States genetic evaluation and that were enrolled with the National Association of Animal Breeders (Madison, WI)...
March 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29216607/frequency-of-risk-factors-and-coexisting-abnormalities-in-a-population-of-egyptian-children-with-autism-spectrum-disorder
#17
Nagwa Abdel Meguid, Neveen Hassan Nashaat, Heba S Hashem, Mai M Khalil
BACKGROUND: Many risk factors interact together during the critical period of development and govern the future phenotype of autism spectrum disorder (ASD). Furthermore, co-occurring abnormalities among individuals with ASD vary a lot so as their abilities. AIM OF WORK: To investigate possible risk factors and to determine the prevalence of coexisting abnormalities in a sample of Egyptian ASD children and their influence on the severity and their communication performance...
February 2018: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/29135989/high-stress-lack-of-sleep-low-school-performance-and-suicide-attempts-are-associated-with-high-energy-drink-intake-in-adolescents
#18
So Young Kim, Songyong Sim, Hyo Geun Choi
OBJECTIVE: Although an association between energy drinks and suicide has been suggested, few prior studies have considered the role of emotional factors including stress, sleep, and school performance in adolescents. This study aimed to evaluate the association of energy drinks with suicide, independent of possible confounders including stress, sleep, and school performance. METHODS: In total, 121,106 adolescents with 13-18 years olds from the 2014 and 2015 Korea Youth Risk Behavior Web-based Survey were surveyed for age, sex, region of residence, economic level, paternal and maternal education level, sleep time, stress level, school performance, frequency of energy drink intake, and suicide attempts...
2017: PloS One
https://www.readbyqxmd.com/read/29096280/paternal-postnatal-depression-in-ireland-prevalence-and-associated-factors
#19
Lloyd Frank Philpott, Paul Corcoran
BACKGROUND: it is well established that fatherhood has a long term positive and protective effect on men's health. However, there is also evidence that the transition to fatherhood can be complex and demanding and can lead to distress, anxiety and increased risk of depression. OBJECTIVE: this study aimed to investigate the prevalence of paternal postnatal depression, and to examine associations with a range of demographic and clinical factors. METHODS: a cross-sectional study design was used to collect primary data from 100 fathers, whose partner gave birth to an infant in the previous 12 months...
January 2018: Midwifery
https://www.readbyqxmd.com/read/29031758/the-association-of-mothers-and-fathers-insomnia-symptoms-with-school-aged-children-s-sleep-assessed-by-parent-report-and-in-home-sleep-electroencephalography
#20
Natalie Urfer-Maurer, Rebekka Weidmann, Serge Brand, Edith Holsboer-Trachsler, Alexander Grob, Peter Weber, Sakari Lemola
OBJECTIVE: Sleep plays an essential role for children's well-being. Because children's sleep is associated with parental sleep patterns, it must be considered in the family context. As a first aim of the present study, we test whether parental insomnia symptoms are related to children's in-home sleep-electroencephalography (EEG). Second, we examine the association between parental insomnia symptoms and maternal and paternal perception of children's sleep using actor-partner interdependence models...
October 2017: Sleep Medicine
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