[CHARGE association].

Arch Pediatr

Service de pédiatrie, hôpital d'Enfants, Tunisie.

Published: December 1994

Background: The spectrum of CHARGE association includes coloboma, heart disease, choanal atresia, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism and ear anomalies and/or deafness.

Case Report: A 4 1/2 month-old boy was admitted suffering from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal.

Conclusion: The CHARGE association must be recognized early since it may be complicated by respiratory and feeding difficulties which can be lethal.

Download full-text PDF

Source

Publication Analysis

Top Keywords

charge association
8
choanal atresia
8
anomalies and/or
8
[charge association]
4
association] background
4
background spectrum
4
spectrum charge
4
association includes
4
includes coloboma
4
coloboma heart
4

Similar Publications

For paediatric patients suffering from neurofibromatosis, Selumetinib (SEL) is the only approved drug. Here an original ecofriendly and high pace method is introduced using 96- microwell spectrophotometric assay (MW-SPA) to measure SEL content in bulk and commercial pharmaceutical formulation (Koselugo capsules). This assay was relied on in-microwell formation of a coloured charge transfer complex (CTC) upon interaction of SEL with 2,3-dichloro-5,6-dicyano-1,4-benzoquinone (DDQ).

View Article and Find Full Text PDF

Mitochondria-targeting nanostructures from enzymatically degradable fluorescent amphiphilic polyesters.

Nanoscale

January 2025

School of Applied and Interdisciplinary Sciences, Indian Association for the Cultivation of Science (IACS), 2A and 2B Raja. S. C. Mullick Road, Jadavpur, Kolkata 700032, India.

Water-soluble π-conjugated luminescent bioprobes have been broadly used in biomedical research but are limited by the nonbiodegradability associated with their rigid C-C backbones. In the present work, we introduced three naphthalene monoimide (NMI)-functionalized amphiphilic fluorescent polyesters (P1, P2, and P3) prepared by transesterification of functional diols with an activated diester monomer of adipic acid. These polyesters featured a side-chain NMI fluorophore, imparting the required hydrophobicity for self-assembly in water and endowing the polymeric nanoassemblies with green fluorescence.

View Article and Find Full Text PDF

Prevention of refeeding syndrome: Evaluation of an enteral refeeding protocol for severely undernourished children.

J Pediatr Gastroenterol Nutr

January 2025

Hospices Civil de Lyon, Hôpital Femme Mère Enfant, Service de Gastroentérologie, Hépatologie et Nutrition Pédiatriques, Université Claude Bernard Lyon-1, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite, France.

Objectives: Refeeding syndrome (RS) defines the deleterious clinical and metabolic changes occurring during nutritional support of severely malnourished patients. Pediatric guidelines to prevent and treat RS are scarce and highly variable. This study aimed to evaluate the effectiveness and safety of an enteral refeeding protocol in severely undernourished hospitalized children with anorexia nervosa (AN) or organic diseases (OD).

View Article and Find Full Text PDF

Significance of KLK7 expression, polymorphisms, and function in sheep horn growth.

BMC Genomics

January 2025

State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing, 100193, China.

Background: Sheep horns play a critical role in the survival and reproduction of sheep. Research on sheep horns not only aids in comprehending their biological roles but is also vital for developing hornless breeds. Although previous studies have suggested that KLK7 may be associated with keratin growth, there are few studies that have focused on the role of KLK7 in sheep horns.

View Article and Find Full Text PDF

Characterization of insulin and bile acid complexes in liposome by different mass spectrometry techniques.

Anal Bioanal Chem

January 2025

Jiangsu Collaborative Innovation Center of Biomedical Functional Materials, Jiangsu Key Laboratory of Biomedical Materials, School of Chemistry and Materials Science, Nanjing Normal University, Nanjing, 210023, China.

Insulin bound with ligand molecules can improve its bioavailability in oral formulations. In this work, the interactions between insulin and bile acids of taurocholic acid (TCA) and glycocholic acid (GCA) are characterized using different mass spectrometry (MS) methods. Electrospray (ESI)-MS analysis revealed that GCA and TCA could interact with insulin individually or together through non-covalent bonds, and the products included mGCA-insulin, nTCA-insulin, and mGCA-nTCA-insulin complexes.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!