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Relevant bibliographies by topics / Cri-du-chat syndrome

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Academic literature on the topic 'Cri-du-chat syndrome'

Author: Grafiati

Published: 25 July 2021

Last updated: 21 June 2025

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Journal articles on the topic "Cri-du-chat syndrome"

1

Rini, Eka Agustia, and R. Trin Suciati. "Cri-du-chat syndrome." Paediatrica Indonesiana 47, no. 3 (2007): 136. http://dx.doi.org/10.14238/pi47.3.2007.136-8.

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Cri-du-chat syndrome (CDCS) is a rare chromosomal disorder, refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome.1 The incidence of CDCS is between 1:25,000 to 1:50,000 births. The prevalence among individuals with mental retardation is about 1.5 in 1000.2 A significant female predominance exists in affected newborns, with a male-to-female ratio of 0.72.2Subtle dysmorphism with neonatal complications and a high-pitched cry typically initiate diagnostic evaluation by cytogenetic studies. 2,3 Currently,there is no cure for cri-du-chat syndrome. The most successful approach in the management of children with CDCS requires a multidisciplinary team approach. 4 The case presented below will remind us how to reveal, suspect and diagnose Cri-Du-Chat syndrome, a rare case in pediatric.

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2

Cuming, Lyndsay, Donna Diamond, Rouin Amirfeyz, and Martin Gargan. "Cri du Chat syndrome." Orthopaedics and Trauma 24, no. 2 (2010): 164–66. http://dx.doi.org/10.1016/j.mporth.2009.11.002.

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3

Gordon, R. R. "The Cri du Chat Syndrome." Developmental Medicine & Child Neurology 7, no. 4 (2008): 423–25. http://dx.doi.org/10.1111/j.1469-8749.1965.tb08233.x.

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4

MILUNSKY, A., and R. G. CHITHAM. "THE CRI DU CHAT SYNDROME*." Journal of Intellectual Disability Research 10, no. 2 (2008): 153–57. http://dx.doi.org/10.1111/j.1365-2788.1966.tb00182.x.

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5

Bella, H., A. Ourrai, A. Radi, A. Hassani, A. Agadr, and R. Abilkassem. "Cri Du Chat Syndrome: A Case Study." SAS Journal of Medicine 10, no. 02 (2024): 140–43. http://dx.doi.org/10.36347/sasjm.2024.v10i02.012.

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Cri du Chat syndrome (CdCS) is a chromosomal abnormality resulting from a deletion of variable size at the end of the short arm of chromosome 5 (5p), including a critical region located at p15.2. It is one of the most common chromosomal deletions, with an incidence in the general population of between 1:20,000 and 1:50,000. Clinical features include an acute monochromatic cry, microcephaly, characteristic craniofacial dysmorphia progressing with age and significant mental and psychomotor retardation. The size of the deletion varies, and treatment depends on the various symptoms. Parental chromosomal rearrangement is found in 12% of cases and the majority of deletions responsible for cri-du-chat disease occur de novo. We present an observation of a Cri du Chat syndrome, confirmed by metaphasic karyotype (46, XY,del(5)(p13) de novo). Through this observation we will update the scientific news of this rare syndrome, as well as the place of cytogenetic explorations in the precise diagnosis and genetic counselling of dysmorphic syndromes.

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6

Hong, Yu Chan, Eom Ji Choi, Yo Han Ho, Oh Kyung Lee, and Young Suk Kim. "Cri-du-chat Syndrome with Dysphagia." Perinatology 29, no. 1 (2018): 48. http://dx.doi.org/10.14734/pn.2018.29.1.48.

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7

Shiono, Hiroshi, Jun-Ichi Kadowaki, and Hisashi Kazama. "Dermatoglyphics in Cri du Chat syndrome." Clinical Genetics 11, no. 2 (2008): 214–18. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01302.x.

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8

XIE, YINGJUN, YI ZHOU, JIANZHU WU, YUNXIA SUN, YONGZHEN CHEN, and BAOJIANG CHEN. "When Cri du chat syndrome meets Edwards syndrome." Molecular Medicine Reports 11, no. 3 (2014): 1933–38. http://dx.doi.org/10.3892/mmr.2014.2920.

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9

Gordon, R. R., and Patricia Cooke. "Facial Appearance in Cri du Chat Syndrome." Developmental Medicine & Child Neurology 10, no. 1 (2008): 69–76. http://dx.doi.org/10.1111/j.1469-8749.1968.tb02840.x.

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10

Collins, M. S. R. "Growth study of cri du chat syndrome." Archives of Disease in Childhood 85, no. 4 (2001): 337–38. http://dx.doi.org/10.1136/adc.85.4.337.

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Dissertations / Theses on the topic "Cri-du-chat syndrome"

1

Lindvall, Charlotta. "Molecular studies of acute myeloid leukemia and the telomerase reverse transcriptase gene /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-291-4.

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2

Claro, Anthony. "Atypical behaviours in developmental disorders: the association between fatique and autistic symptoms in children with Cri du Chat syndrome." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=95071.

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The goal of the current study is to examine whether fatigue level of children diagnosed with Cri du Chat syndrome or moderate to severe learning disabilities, is associated with their expression of autistic symptoms. Sixty-nine children with Cri du Chat syndrome and 47 children with moderate to severe learning disabilities were assessed using the ISQ-A for fatigue level and the CARS for autism level rating. In line with our hypothesis, results of hierarchical multiple regression analyses indicated that children who exhibited high levels of fatigue were more likely than children who exhibited low levels of fatigue to express high levels of autistic symptoms. Contrary to our hypothesis, children with moderate to severe learning disabilities who exhibited high levels of fatigue conferred the greatest vulnerability to the expression of autistic symptoms.<br>L'objectif de la présente étude est de déterminer s'il y a un lien entre le niveau de fatigue et l'expression de symptômes associées à l'autisme chez les enfants ayant été diagnostiqués avec le syndrome du Cri du Chat ou des difficultés d'apprentissage modérées ou sévères. Soixante-et-neuf enfants ayant le syndrome Cri du Chat et quarante-sept enfants souffrant de difficultés d'apprentissage modérées ou sévères ont fait l'objet d'examen en utilisant le ISQ-A pour déterminer les niveaux de fatigue et le CARS pour l'évaluation du niveau d'autisme. En accord avec notre hypothèse, les résultats des analyses de régression multiple indiquent que les enfants exhibant des niveaux plus élevés de fatigue étaient plus sujets que les enfants exhibant des niveaux plus bas de fatigue à montrer des niveaux élevés de symptômes d'autisme. Contrairement à notre hypothèse, ce sont les enfants ayant des difficultés d'apprentissage modérées ou sévères et exhibant des niveaux élevés de fatigue qui étaient les plus sujets à l'expression de symptômes d'autisme.

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3

SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558456.

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L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido acuto, caratteristiche dismorfiche, scarsa crescita e ritardo dello sviluppo. L'aploinsufficienza dei geni situati all'interno di 5p contribuisce al fenotipo. Le cellule PBMC sono state riprogrammate in cellule staminali pluripotenti indotte (iPSC) mediante i fattori Yamanaka Oct4, Sox2, Klf4 e c-Myc utilizzando un vettore di riprogrammazione CytoTune-iPS 2.0 non integrato; le cellule iPSC ottenute sono state caratterizzate per la pluripotenza e la staminalità. Le cellule CdC-iPSC sono state differenziate in iMSC utilizzando MesenCult™-ACF Plus Medium e Culture Kit. Tali cellule CdCs-iMSC sono risultate aderenti alla plastica, positive per i marcatori delle cellule MSC e capaci di differenziarsi in osteociti, adipociti, e condroblasti. Tali proprietà hanno soddisfatto i criteri minimi delle MSC umane proposti dalla Società Internazionale di Terapia Cellulare. Nel periodo trascorso presso l’Università di Santiago De Compostela (Spagna), l’obiettivo dell’attività sperimentale è stato quello di isolare vescicole extracellulari da urina (uEV). L'urina infatti è stata ampiamente studiata per identificare biomarcatori di patologie renali; quindi riflette un quadro olistico dell'intero sistema urinario ed i campioni possono essere raccolti ripetutamente in modo non invasivo. L'analisi delle uEV, isolate appunto dalle urine, può fornire una soluzione interessante per il loro -cargo- (proteine, RNA, lipidi e glicani) che rimane protetto. L'ultracentrifugazione è la tecnica comune per isolare le EV da fluidi biologici. Tuttavia, tale tecnica è laboriosa, dispendiosa in termini di tempo e di solito richiede apparecchiature costose. In questa tesi di dottorato, per isolare le uEV da donatori umani sani, abbiamo utilizzato ExoGAG (NasasBiotech, Santiago de Compostela, Spagna) Kit ed il metodo convenzionale di ultracentrifugazione. Quindi, per esaminare l'internalizzazione delle uEV nelle cellule di topo mIMCD3 e la colocalizzazione delle cilia primarie in colture 2D di tali cellule del dotto di raccolta midollare interno 3 (mIMCD3) di topo, le uEV isolate sono state marcate con la colorazione dei globuli rossi Vybrant™ DiD e le ciglia primarie sono state indagate con anticorpi anti α -Tubulina acetilata ed analisi al microscopio confocale. In particolare abbiamo isolato con successo da donatori sani le uEV che esprimono le tetraspanine di superficie CD63 e marcatori proteici CD81 ed abbiamo valutato il loro contenuto di RNA con Spectrometry Nanodrop e Capillary Tapstation Electhrophoresis. I dati ottenuti dimostrano che sia le uEV isolate con il kit ExoGAG, sia le uEV isolate con ultracentrifugazione non sono state internalizzate dalle cellule mIMCD3 e la microscopia confocale ha rivelato la mancanza di colocalizzazione delle cilia primarie e delle uEV colorate con Vybrant™ DiD Cell-labeling solution. Questi risultati indicano che potrà essere utile utilizzare in questo tipo di esperimenti cellule umane.<br>Cellular disease modelling using patient-specific iPSCs is one of the tools used to study the biological and pathological mechanisms underlying specific disease. The main objective of this PhD thesis was to generate iPSCs from peripheral blood mononuclear cells (PBMCs) obtained from patients with Cri-du-Chat Syndrome (CdCS) and differentiation into mesenchymal stem cells (MSCs). CdCS is a genetic disease caused by a total or partial deletion in the short arm of chromosome 5, characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. Haploinsufficiency of the genes located within 5p contributed to the phenotype. PBMCs were reprogrammed into iPSCs by introducing the Yamanaka factors Oct4, Sox2, Klf4, and c-Myc using a nonintegrating CytoTune-iPS 2.0 reprogramming vectors and characterized for pluripotency and stemness and their ability to differentiate into the three germ layers. Then CdCs-iPSCs were differentiated into iMSCs using MesenCult™-ACF Plus Medium and Culture Kit. CdCs-iMSCs were plastic adherent, expressed MSC surface markers and could differentiate into osteocytes, adipocytes, and chondroblasts. These properties satisfy the minimal criteria of human MSCs proposed by the International Society of Cellular Therapy. Urine has been tremendously studied to discover biomarkers of distinct renal pathologies; hence it reflects a holistic picture of the entire urinary system. It could be collected repeatedly in a noninvasive manner. The analysis of urinary Extracellular Vesicles, uEVs, encountered in urine provides an attractive solution due to their cargo (Proteins, RNAs, lipids, and Glycans) which remains protected. Ultracentrifugation is the common technique for isolating EVs from biological fluids. However, this technique is laborious, time-consuming, and usually requires expensive equipment. In this PhD thesis, firstly, to isolate uEVs from healthy human donors, we utilized ExoGAG (NasasBiotech, Santiago de Compostela, Spain) Extracellular vesicles purification kit and conventional Ultracentrifugation method. Secondly, to assess uEVs internalization and primary cilia colocalization in 2D culture of mouse inner medullary-collecting duct 3 (mIMCD3) cells, the isolated uEVs were Labelled with Vybrant™ DiD Red Cell stain, and primary cilia were immunologically stained with anti-acetylated α -Tubulin. Confocal microscopy images were obtained for further analysis. We successfully isolated uEVs from healthy donors expressing the surface tetraspanins CD63 and CD81 protein markers and assessed their RNAs contents with Spectrometry Nanodrop and Capillary Tapstation Electrophoresis System. Isolated uEVs with ExoGAG commercial kit and Ultracentrifugation could not be internalized and uptaken by Mouse inner medullary-collecting duct 3 (mIMCD3), Confocal Microscopy images revealed the lack of colocalization of expressed primary cilia and uEVs stained with Vybrant™ DiD Cell-Labelling solution

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4

SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558457.

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Abstract:

L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido acuto, caratteristiche dismorfiche, scarsa crescita e ritardo dello sviluppo. L'aploinsufficienza dei geni situati all'interno di 5p contribuisce al fenotipo. Le cellule PBMC sono state riprogrammate in cellule staminali pluripotenti indotte (iPSC) mediante i fattori Yamanaka Oct4, Sox2, Klf4 e c-Myc utilizzando un vettore di riprogrammazione CytoTune-iPS 2.0 non integrato; le cellule iPSC ottenute sono state caratterizzate per la pluripotenza e la staminalità. Le cellule CdC-iPSC sono state differenziate in iMSC utilizzando MesenCult™-ACF Plus Medium e Culture Kit. Tali cellule CdCs-iMSC sono risultate aderenti alla plastica, positive per i marcatori delle cellule MSC e capaci di differenziarsi in osteociti, adipociti, e condroblasti. Tali proprietà hanno soddisfatto i criteri minimi delle MSC umane proposti dalla Società Internazionale di Terapia Cellulare. Nel periodo trascorso presso l’Università di Santiago De Compostela (Spagna), l’obiettivo dell’attività sperimentale è stato quello di isolare vescicole extracellulari da urina (uEV). L'urina infatti è stata ampiamente studiata per identificare biomarcatori di patologie renali; quindi riflette un quadro olistico dell'intero sistema urinario ed i campioni possono essere raccolti ripetutamente in modo non invasivo. L'analisi delle uEV, isolate appunto dalle urine, può fornire una soluzione interessante per il loro -cargo- (proteine, RNA, lipidi e glicani) che rimane protetto. L'ultracentrifugazione è la tecnica comune per isolare le EV da fluidi biologici. Tuttavia, tale tecnica è laboriosa, dispendiosa in termini di tempo e di solito richiede apparecchiature costose. In questa tesi di dottorato, per isolare le uEV da donatori umani sani, abbiamo utilizzato ExoGAG (NasasBiotech, Santiago de Compostela, Spagna) Kit ed il metodo convenzionale di ultracentrifugazione. Quindi, per esaminare l'internalizzazione delle uEV nelle cellule di topo mIMCD3 e la colocalizzazione delle cilia primarie in colture 2D di tali cellule del dotto di raccolta midollare interno 3 (mIMCD3) di topo, le uEV isolate sono state marcate con la colorazione dei globuli rossi Vybrant™ DiD e le ciglia primarie sono state indagate con anticorpi anti α -Tubulina acetilata ed analisi al microscopio confocale. In particolare abbiamo isolato con successo da donatori sani le uEV che esprimono le tetraspanine di superficie CD63 e marcatori proteici CD81 ed abbiamo valutato il loro contenuto di RNA con Spectrometry Nanodrop e Capillary Tapstation Electhrophoresis. I dati ottenuti dimostrano che sia le uEV isolate con il kit ExoGAG, sia le uEV isolate con ultracentrifugazione non sono state internalizzate dalle cellule mIMCD3 e la microscopia confocale ha rivelato la mancanza di colocalizzazione delle cilia primarie e delle uEV colorate con Vybrant™ DiD Cell-labeling solution. Questi risultati indicano che potrà essere utile utilizzare in questo tipo di esperimenti cellule umane.<br>Cellular disease modelling using patient-specific iPSCs is one of the tools used to study the biological and pathological mechanisms underlying specific disease. The main objective of this PhD thesis was to generate iPSCs from peripheral blood mononuclear cells (PBMCs) obtained from patients with Cri-du-Chat Syndrome (CdCS) and differentiation into mesenchymal stem cells (MSCs). CdCS is a genetic disease caused by a total or partial deletion in the short arm of chromosome 5, characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. Haploinsufficiency of the genes located within 5p contributed to the phenotype. PBMCs were reprogrammed into iPSCs by introducing the Yamanaka factors Oct4, Sox2, Klf4, and c-Myc using a nonintegrating CytoTune-iPS 2.0 reprogramming vectors and characterized for pluripotency and stemness and their ability to differentiate into the three germ layers. Then CdCs-iPSCs were differentiated into iMSCs using MesenCult™-ACF Plus Medium and Culture Kit. CdCs-iMSCs were plastic adherent, expressed MSC surface markers and could differentiate into osteocytes, adipocytes, and chondroblasts. These properties satisfy the minimal criteria of human MSCs proposed by the International Society of Cellular Therapy. Urine has been tremendously studied to discover biomarkers of distinct renal pathologies; hence it reflects a holistic picture of the entire urinary system. It could be collected repeatedly in a noninvasive manner. The analysis of urinary Extracellular Vesicles, uEVs, encountered in urine provides an attractive solution due to their cargo (Proteins, RNAs, lipids, and Glycans) which remains protected. Ultracentrifugation is the common technique for isolating EVs from biological fluids. However, this technique is laborious, time-consuming, and usually requires expensive equipment. In this PhD thesis, firstly, to isolate uEVs from healthy human donors, we utilized ExoGAG (NasasBiotech, Santiago de Compostela, Spain) Extracellular vesicles purification kit and conventional Ultracentrifugation method. Secondly, to assess uEVs internalization and primary cilia colocalization in 2D culture of mouse inner medullary-collecting duct 3 (mIMCD3) cells, the isolated uEVs were Labelled with Vybrant™ DiD Red Cell stain, and primary cilia were immunologically stained with anti-acetylated α -Tubulin. Confocal microscopy images were obtained for further analysis. We successfully isolated uEVs from healthy donors expressing the surface tetraspanins CD63 and CD81 protein markers and assessed their RNAs contents with Spectrometry Nanodrop and Capillary Tapstation Electrophoresis System. Isolated uEVs with ExoGAG commercial kit and Ultracentrifugation could not be internalized and uptaken by Mouse inner medullary-collecting duct 3 (mIMCD3), Confocal Microscopy images revealed the lack of colocalization of expressed primary cilia and uEVs stained with Vybrant™ DiD Cell-Labelling solution

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5

SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558460.

Full text

Abstract:

L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido acuto, caratteristiche dismorfiche, scarsa crescita e ritardo dello sviluppo. L'aploinsufficienza dei geni situati all'interno di 5p contribuisce al fenotipo. Le cellule PBMC sono state riprogrammate in cellule staminali pluripotenti indotte (iPSC) mediante i fattori Yamanaka Oct4, Sox2, Klf4 e c-Myc utilizzando un vettore di riprogrammazione CytoTune-iPS 2.0 non integrato; le cellule iPSC ottenute sono state caratterizzate per la pluripotenza e la staminalità. Le cellule CdC-iPSC sono state differenziate in iMSC utilizzando MesenCult™-ACF Plus Medium e Culture Kit. Tali cellule CdCs-iMSC sono risultate aderenti alla plastica, positive per i marcatori delle cellule MSC e capaci di differenziarsi in osteociti, adipociti, e condroblasti. Tali proprietà hanno soddisfatto i criteri minimi delle MSC umane proposti dalla Società Internazionale di Terapia Cellulare. Nel periodo trascorso presso l’Università di Santiago De Compostela (Spagna), l’obiettivo dell’attività sperimentale è stato quello di isolare vescicole extracellulari da urina (uEV). L'urina infatti è stata ampiamente studiata per identificare biomarcatori di patologie renali; quindi riflette un quadro olistico dell'intero sistema urinario ed i campioni possono essere raccolti ripetutamente in modo non invasivo. L'analisi delle uEV, isolate appunto dalle urine, può fornire una soluzione interessante per il loro -cargo- (proteine, RNA, lipidi e glicani) che rimane protetto. L'ultracentrifugazione è la tecnica comune per isolare le EV da fluidi biologici. Tuttavia, tale tecnica è laboriosa, dispendiosa in termini di tempo e di solito richiede apparecchiature costose. In questa tesi di dottorato, per isolare le uEV da donatori umani sani, abbiamo utilizzato ExoGAG (NasasBiotech, Santiago de Compostela, Spagna) Kit ed il metodo convenzionale di ultracentrifugazione. Quindi, per esaminare l'internalizzazione delle uEV nelle cellule di topo mIMCD3 e la colocalizzazione delle cilia primarie in colture 2D di tali cellule del dotto di raccolta midollare interno 3 (mIMCD3) di topo, le uEV isolate sono state marcate con la colorazione dei globuli rossi Vybrant™ DiD e le ciglia primarie sono state indagate con anticorpi anti α -Tubulina acetilata ed analisi al microscopio confocale. In particolare abbiamo isolato con successo da donatori sani le uEV che esprimono le tetraspanine di superficie CD63 e marcatori proteici CD81 ed abbiamo valutato il loro contenuto di RNA con Spectrometry Nanodrop e Capillary Tapstation Electhrophoresis. I dati ottenuti dimostrano che sia le uEV isolate con il kit ExoGAG, sia le uEV isolate con ultracentrifugazione non sono state internalizzate dalle cellule mIMCD3 e la microscopia confocale ha rivelato la mancanza di colocalizzazione delle cilia primarie e delle uEV colorate con Vybrant™ DiD Cell-labeling solution. Questi risultati indicano che potrà essere utile utilizzare in questo tipo di esperimenti cellule umane.<br>Cellular disease modelling using patient-specific iPSCs is one of the tools used to study the biological and pathological mechanisms underlying specific disease. The main objective of this PhD thesis was to generate iPSCs from peripheral blood mononuclear cells (PBMCs) obtained from patients with Cri-du-Chat Syndrome (CdCS) and differentiation into mesenchymal stem cells (MSCs). CdCS is a genetic disease caused by a total or partial deletion in the short arm of chromosome 5, characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. Haploinsufficiency of the genes located within 5p contributed to the phenotype. PBMCs were reprogrammed into iPSCs by introducing the Yamanaka factors Oct4, Sox2, Klf4, and c-Myc using a nonintegrating CytoTune-iPS 2.0 reprogramming vectors and characterized for pluripotency and stemness and their ability to differentiate into the three germ layers. Then CdCs-iPSCs were differentiated into iMSCs using MesenCult™-ACF Plus Medium and Culture Kit. CdCs-iMSCs were plastic adherent, expressed MSC surface markers and could differentiate into osteocytes, adipocytes, and chondroblasts. These properties satisfy the minimal criteria of human MSCs proposed by the International Society of Cellular Therapy. Urine has been tremendously studied to discover biomarkers of distinct renal pathologies; hence it reflects a holistic picture of the entire urinary system. It could be collected repeatedly in a noninvasive manner. The analysis of urinary Extracellular Vesicles, uEVs, encountered in urine provides an attractive solution due to their cargo (Proteins, RNAs, lipids, and Glycans) which remains protected. Ultracentrifugation is the common technique for isolating EVs from biological fluids. However, this technique is laborious, time-consuming, and usually requires expensive equipment. In this PhD thesis, firstly, to isolate uEVs from healthy human donors, we utilized ExoGAG (NasasBiotech, Santiago de Compostela, Spain) Extracellular vesicles purification kit and conventional Ultracentrifugation method. Secondly, to assess uEVs internalization and primary cilia colocalization in 2D culture of mouse inner medullary-collecting duct 3 (mIMCD3) cells, the isolated uEVs were Labelled with Vybrant™ DiD Red Cell stain, and primary cilia were immunologically stained with anti-acetylated α -Tubulin. Confocal microscopy images were obtained for further analysis. We successfully isolated uEVs from healthy donors expressing the surface tetraspanins CD63 and CD81 protein markers and assessed their RNAs contents with Spectrometry Nanodrop and Capillary Tapstation Electrophoresis System. Isolated uEVs with ExoGAG commercial kit and Ultracentrifugation could not be internalized and uptaken by Mouse inner medullary-collecting duct 3 (mIMCD3), Confocal Microscopy images revealed the lack of colocalization of expressed primary cilia and uEVs stained with Vybrant™ DiD Cell-Labelling solution

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6

Tunnicliffe, Penelope Louisa. "Self-injurious and aggressive behaviour in Angelman, Cri du Chat and Cornelia de Lange syndromes." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/768/.

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In a series of studies, the role of operant reinforcement of phenotypic problem behaviours in Angelman, Cri du Chat and Cornelia de Lange syndromes was explored. Firstly, a systematic review of the literature highlighted papers with robust experimental functional analytic designs; providing appropriate methodology for the subsequent studies. The review also showed a trend towards an increase in the number of published papers that linked facets of the behavioural phenotype to challenging behaviour (gene-environment interactions). Next, the phenomenology and correlates of self-injurious and aggressive behaviour in the syndromes were explored at a given level of behavioural specificity. Results showed that self-injury was more common in Cornelia de Lange syndrome and specific forms of aggressive behaviour were common in Angelman syndrome. Experimental functional analysis and structured descriptive assessments were utilised to examine gene-environment interactions in the syndromes and broadly, challenging behaviour in the Cornelia de Lange syndrome group evidenced a stronger association with pain, whereas challenging behaviour in the Angelman syndrome group evidenced a stronger association with positive social reinforcement. Overall, the studies provide evidence that challenging behaviour in genetic syndromes can be influenced by environmental factors. Implications for practice and for informing a comprehensive model of challenging behaviour are discussed.

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Piper, Christine [Verfasser]. "Verlaufsstudie bei 4 häufigen Chromosomenaberrationen : Cri-du-chat-Syndrom, Wolf-Hirschhorn-Syndrom, Trisomie 13, Trisomie 18 / vorgelegt von Christine Piper." 2005. http://d-nb.info/975964933/34.

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Mwale, Emanuel. "Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley." Thesis, 2019. http://hdl.handle.net/10500/27660.

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Bibliography: leaves 653-669<br>Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience. In His incarnational life and later through His death on Calvary’s cross, Jesus needed to deal with this dual problem of sin. In order for Him to achieve this, He needed to identify Himself with the fallen humanity in such a way that He would qualify to be the substitute for the fallen humanity. In His role as fallen humanity’s substitute, He would die vicariously and at the same time have sin as a tendency rendered impotent. Jesus needed to assume a human nature that would qualify Him to be an understanding and sympathetic High Priest. He needed to assume a nature that would qualify Him to be an example in overcoming temptation and suffering. Thus, in this study, after comparing and critically evaluating the Christological views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley, I propose that Jesus assumed a unique post-fall (postlapsarian) human nature. He assumed the very nature that all human beings since humankind’s fall have, with its tendency or leaning towards sin. However, unlike other human beings, who are sinners by nature and need a saviour, Jesus was not a sinner. I contend that Jesus was unique because, first and foremost, He was conceived in Mary’s womb by the power of the Holy Spirit and was filled with the Holy Spirit throughout His earthly life. Second; He was the God-Man; and third, He lived a sinless life. This study contributes to literature on Christology, and uniquely to Christological dialogue between Evangelical and Seventh-day Adventist theologians.<br>Philosophy, Practical and Systematic Theology<br>D. Phil. (Systematic Theology)

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Books on the topic "Cri-du-chat syndrome"

1

Cornish, Kim. Cri du chat syndrome: Guide lines for parents and professionals. Cri Du Chat Syndrome Support Group, 1998.

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Collins, Margaret Sutherland Ross. Towards targeted nutritional intervention in Cri du Chat syndrome(s) (5p-) Down's syndrome (Trisomy 21) and Autistic Spectrum disorders. The author], 2000.

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Parker, James N., and Philip M. Parker. Cri-du-chat syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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Book chapters on the topic "Cri-du-chat syndrome"

1

Gilbert, Patricia. "Cri—du—chat syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_20.

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Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_60-2.

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Ohr, Phyllis S. "Cri du chat syndrome." In Health-related disorders in children and adolescents: A guidebook for educators and service providers (2nd ed.). American Psychological Association, 2023. http://dx.doi.org/10.1037/0000349-017.

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Ohr, Phyllis S. "Cri-du-chat syndrome." In Health-related disorders in children and adolescents: A guidebook for understanding and educating. American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-027.

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Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_60.

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Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Cri-du-Chat Syndrome (Chromosome 5 Short Arm Deletion)." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_426.

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Tariverdian, Gholamali. "Karyotyp bei Cri-du-Chat-Syndrom: 46, XX, 5p−." In Bildtafeln für die genetische Beratung. Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76495-0_27.

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Turleau, C. "Cri-du-Chat Syndrome." In Encyclopedia of Genetics. Elsevier, 2001. http://dx.doi.org/10.1006/rwgn.2001.0290.

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"Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-1037-9_60.

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Didden, R., and L. Curfs. "Cri-du-chat Syndrome." In Brenner's Encyclopedia of Genetics. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-374984-0.00353-3.

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Conference papers on the topic "Cri-du-chat syndrome"

1

Gomez, M., J. Caceres, P. Panqueva, S. M. Restrepo, and M. Naranjo. "Ebstein's Anomaly with Severe Pulmonary Hypertension in a Patient with Cri-Du-Chat Syndrome." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5365.

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Gomez, M. P., J. Caceres, S. M. Restrepo, O. P. Panqueva, and M. S. Naranjo. "Ebstein's Anomaly with Severe Pulmonary Hypertension in a Patient with Cri-du-chat Syndrome." In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a1761.

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Almeida, V., SN Chehimi, GFS Carvalho, et al. "DIFFERENCE IN METHYLATION STATUS OF REMAINING ALLELE IN SIBLINGS WITH THE SAME DELETION SIZE IN 5P." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.6429.

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Objective: Cri Du Chat syndrome or 5psyndrome (OMIM #123450) is characterized by a genomic loss in the short arm of chromosome 5 and by variable clinical manifestations, that include high-pitched cry in newborns. The phenotypic variability in this syndrome may not be limited only to variations in gene structure – such as deletions, duplications, inversions, insertions and translocations – as DNA methylation mechanisms, which occurs mainly in the “CpG Islands”, are also possible. Therefore, we studied the methylation status of the remaining allele of region of breakpoint at 5pin siblings, an 11-year-old boy and a 13-year-old girl, with a same size deletion inherited from their mother and with distinct phenotypes. Method: DNA samples from siblings with the same deletion size in 5p delimited by genomic array were evaluated using the Infinium Human Methylation 450 BeadChip platform. The bioinformatics analysis was performed in R programming language. Conclusion: We noticed a difference in methylation status of the remaining allele at the breakpoint of region of 5pin the siblings. We infer that this difference in methylation may explain the phenotypic differences in patients with this syndrome.

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