Universidad del Desarrollo

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The Latin American Society for Immunodeficiencies Registry
(2024)
Gisela Seminario
;
Maria Edith Gonzalez-Serrano
;
Carolina Sanchez Aranda
;
Anete Sevciovic Grumach
;
Gesmar Rodrigues Silva Segundo
Scopus© Citations 1 3
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Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
(2012)
Guillermo Lay-Son
;
Mirta Palomares
;
M. Luisa Guzman
;
Marcos Vasquez
;
Alonso Puga
2Scopus© Citations 10
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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
(2023)
Lindsay R. Freud
;
Stephanie Galloway
;
T. Blaine Crowley
;
Julie Moldenhauer
;
Ann Swillen
1Scopus© Citations 9
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Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
(2012)
Maria Luisa Guzman
;
DELGADO BECERRA, OROZIMBA IRIS
;
Guillermo Lay-Son
;
Edward Willans
;
Alonso Puga
3Scopus© Citations 9
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
(2023)
Erik Boot
;
Sólveig Óskarsdóttir
;
Joanne C.Y. Loo
;
Terrence Blaine Crowley
;
Ani Orchanian-Cheff
Scopus© Citations 76 2
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
(2023)
Sólveig Óskarsdóttir
;
Erik Boot
;
Terrence Blaine Crowley
;
Joanne C.Y. Loo
;
Jill M. Arganbright
Scopus© Citations 50 2
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
(2020)
Isabelle Cleynen
;
Worrawat Engchuan
;
Matthew S. Hestand
;
Tracy Heung
;
Aaron M. Holleman
Scopus© Citations 98 2
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Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
(2021)
Isabelle Meyts
;
Giorgia Bucciol
;
Isabella Quinti
;
Bénédicte Neven
;
Alain Fischer
Scopus© Citations 309 3
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Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study
(2021)
Jorge Mauro
;
Mario Diaz
;
Teresa Córdova
;
Katiuska Villanueva
;
Tania Cáceres
<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Study Objectives</jats:title> <jats:p>Our aim is to evaluate the presence of REM sleep without atonia (RWA), the objective hallmark of REM sleep Behaviour Disorder (RBD), as prodromal marker of Parkinson’s disease (PD), in an adult cohort of 22q11.2 deletion syndrome (22qDS).</jats:p> </jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>Sleep quality was assessed by means of Pittsburgh quality scale index (PSQI), and RBD symptoms by means of RBD questionnaire-Hong-Kong (RBDQ-HK). Attended domiciliary video-Polysomnography (v-PSG) were performed in 26 adults (18–51 years, 14 females) 22qDS patients. Electromyogram during REM sleep was analyzed by means of SINBAR procedure at 3-second time resolution (miniepochs).</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>An overall poor sleep quality was observed in the cohort and high RBDQ-HK score in 7 of the 26 patients, two additional patients with positive dream enactment reported by close relatives had low score of RBDQ-HK. Nevertheless, SINBAR RWA scores were lower than cut-off threshold for RWA (mean 5.5%, range 0–12.2%). TST and the percentage of light sleep (N1) were increased, with preserved proportions of N2 and N3. Participants reported poor quality of sleep (mean PSQI &gt; 5), with prolonged sleep latency in the v-PSG. No subjects exhibit evident dream enactment episodes during recording sessions.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>RWA was absent in the studied cohort of 22qDS adult volunteers according to validated polysomnographic criteria. High RBDQ-HK scores do not correlate with v-PSG results among 22qDS individuals.</jats:p> </jats:sec>
Scopus© Citations 5 2
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Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome
(2021)
Ángeles Tepper
;
Analía Cuiza
;
Luz María Alliende
;
Carlos Mena
;
Juan Pablo Ramirez-Mahaluf
<jats:title>Abstract</jats:title> <jats:p>22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder that represents one of the greatest known risk factors for psychosis. Previous studies in psychotic subjects without the deletion have identified a dopaminergic dysfunction in striatal regions, and dysconnectivity of striatocortical systems, as an important mechanism in the emergence of psychosis. Here, we used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients. We used a 2 × 2 factorial design including 125 subjects (55 healthy controls, 28 22q11.2DS patients without a history of psychosis, 10 22q11.2DS patients with a history of psychosis, and 32 subjects with a history of psychosis without the deletion), allowing us to identify network effects related to the deletion and to the presence of psychosis. In line with previous results from psychotic patients without 22q11.2DS, we found that there was a dorsal to ventral gradient of hypo- to hyperstriatocortical connectivity related to psychosis across both patient groups. The 22q11.2DS was additionally associated with abnormal functional connectivity in ventral striatocortical networks, with no significant differences identified in the dorsal system. Abnormalities in the ventral striatocortical system observed in these individuals with high genetic risk to psychosis may thus reflect a marker of illness risk.</jats:p>
1Scopus© Citations 6

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