Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Primož, Kotnik"'
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 1, Pp 18-24 (2024)
Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder of chromosomal region 15q, characterized by hypotonia, feeding problems, and emotional-behavioural problems. Comprehensive treatment includes pharmacological therapy with the replac
Externí odkaz:
https://doaj.org/article/486ed29493dc43e6a3deb75d37e78317
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 1, Pp 18-24 (2024)
Sindrom Prader-Willi (PWS) je kompleksna genetska motnja, ki je posledica pomanjkljivega izražanja genov na kromosomski regiji 15q, za katero so značilne hipotonija, težave s hranjenjem in čustveno-vedenjske težave. Celostna obravnava vključuje
Externí odkaz:
https://doaj.org/article/f822fee865654ccb922b324458e2cb41
Autor:
Shawnda A. Morrison, Gregor Jurak, Gregor Starc, Marjeta Kovač, Mojca Golobič, Poljanka Pavletič Samardžija, Mojca Gabrijelčič, Primož Kotnik, Kaja Meh, Marko Primožič, Vedrana Sember
Publikováno v:
Journal of Exercise Science & Fitness, Vol 21, Iss 4, Pp 305-312 (2023)
Background: Slovenian children are facing considerable health challenges from the rapid social changes that influence their opportunity to engage in daily physical activity. Objective: To overlay the social changes to the established Report Card mode
Externí odkaz:
https://doaj.org/article/b0b6243441c04be6af65bf2a390cc07a
Autor:
Maria João Gaia, Jasna Šuput Omladič, Mojca Kavčič, Maruša Debeljak, Robert Kordič, Primož Kotnik
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 2, Pp 74-78 (2023)
Uvod: Motnje v razvoju spola (DSD) se pojavijo pri približno 1/5000 živorojenih otrok. Med nedavno odkritimi genetskimi vzroki za 46,xY DSD so različice v genu NR5A1, ki so odgovorne za širok fenotipski razpon. Prikaz primera: Predstavljamo prime
Externí odkaz:
https://doaj.org/article/5dde631394aa4e87b08c9e63507aa228
Autor:
Maria João Gaia, Jasna Šuput Omladič, Mojca Kavčič, Maruša Debeljak, Robert Kordič, Primož Kotnik
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 2, Pp 74-78 (2023)
Introduction: Differences of Sex Development (DSD) occur in approximately 1/5000 live births. One of the recently found genetic causes for 46, xY DSD is NR5A1 gene variants, responsible for a broad phenotypic spectrum. Case Report: We present a case
Externí odkaz:
https://doaj.org/article/5ad54bd9ed384e29a5ea029027d795d0
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 1, Pp 02-09 (2023)
Relative energy deficiency syndrome develops in children and adolescents as a result of a negative energy balance due to insufficient energy intake during intense physical exercise regimens. This energy imbalance leads to impaired physiological funct
Externí odkaz:
https://doaj.org/article/67b837d4f17f4146806bd1745436f8a7
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 1, Pp 02-09 (2023)
Sindrom relativnega energijskega primanjkljaja se razvije pri otrocih in mladostnikih športnikih ob negativni energijski bilanci, ki je posledica nezadostnega vnosa energije glede na velike potrebe ob intenzivni telesni vadbi. Energijsko neravnovesj
Externí odkaz:
https://doaj.org/article/ec9da7bdaccb4acc93872c2247b96201
Publikováno v:
Slovenska pediatrija, Vol 29, Iss 1, Pp 31-36 (2022)
Hipokalcemija je pogosta motnja v presnovi kalcija in fosfata pri otrocih, zlasti pri novorojenčkih. Pogosto ne povzroča simptomov. Simptomi in znaki so odvisni od otrokove starosti. Na primarni ravni zdravstvene obravnave zdravnik diagnozo hipokal
Externí odkaz:
https://doaj.org/article/0307ed2bb58e4497af87e8b0eb64089f
Publikováno v:
Slovenska pediatrija, Vol 29, Iss 1, Pp 31-36 (2022)
Hypocalcaemia is a common disorder of calcium and phosphate metabolism in children, especially in newborns. It is often asymptomatic; clinical signs and symptoms are dependent on the age of the child. The primary care physician can confirm hypocalcae
Externí odkaz:
https://doaj.org/article/eebf89a0d59e44d2acc7dc8c8d277023
Publikováno v:
Genes, Vol 14, Iss 9, p 1763 (2023)
In the last decade, the development of high-throughput sequencing methodologies has significantly improved the gathering of genomic information and consequent under-standing of the genetic and epigenetic background of complex and monogenetic endocrin
Externí odkaz:
https://doaj.org/article/b49c3517a84f4eb68a1f90ba16d44549