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Rodrigo de Almeida Vaucher,Janice Luehring Giongo,Leandro Perger Bolzan,Marcos Saldanha Côrrea,Viviane Pedroso Fausto,Camilla Filippi dos Santos Alves,Leonardo Quintana Soares Lopes,Aline Augusti Boli 한국응용곤충학회 2015 Journal of Asia-Pacific Entomology Vol.18 No.2
Antimicrobial activity of Amazonian oils Andiroba and Copaiba against Paenibacillus larvae has been recently determined, indicating their potential use for the control of American Foulbrood Disease (AFB), but the use of essential oils in the environment still represents a challenge. The oils present several volatile elements in its composition, such high volatility being the cause of a sharp decline in antimicrobial activity. In this context the nanostructuration of these amazon oils may decrease the volatile characteristic of such products. The following research aimed to evaluate the activity of nanoemulsions prepared with Andiroba and Copaiba oils against Paenibacillus species. The toxicity of nanoemulsions has also been investigated with larvae and adult worker bees. Nanoemulsions (NE1, 10% Andiroba oil; NE2, 10% Copaiba oil; and NE3, 10% medium-chain triglyceride as negative control) were prepared in a high pressure homogenizer. The particle sizes were determined as 192, 211, and 178 nm for NE1, NE2, and NE3, respectively. The z potential values were −56.4, −47.1, and −27.2, respectively. NE1 and NE2 showed minimal inhibitory concentration (MIC) values lower than 0.39% for most Paenibacillus species tested. None of the strains were inhibited by negative control NE3. The timeresponse effect of the nanoemulsions has been tested on P. larvae ATCC9545, resulting in a decrease in the number of viable cells to less than 1 log CFU/ml for NE1. The nanoemulsion NE1 showed a significant toxic effect for the larvae (26% mortality) when compared with NE2 (13%) and NE3 (7%). The toxic effect of nanoemulsions has also been evaluated for 72 h in adult worker bees and low mortality rate was only observed for the NE1 treatment (8.3%). This study shows for the first time that nanoemulsions of Copaiba oil can be a potential candidate for the treatment or prevention of AFB.
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
Mouron-Hryciuk Julie,Stoppa-Vaucher Sophie,Busiah Kanetee,Bouthors Thérèse,Antoniou Maria Christina,Jacot Eric,Brusgaard Klaus,Christesen Henrik Thybo,Hussain Khalid,Dwyer Andrew,Roth-Kleiner Matthias 대한소아내분비학회 2021 Annals of Pediatirc Endocrinology & Metabolism Vol.26 No.1
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH from the first day of life. Patient 1 developed midgut volvulus after initiating diazoxide and required intestinal resection. He was subsequently managed with a high-dose octreotide and glucose-enriched diet. Consistent with diffuse type CHI by 18F-dihydroxyphenylalanine positron emission tomography-computed tomography, genetic testing revealed a homozygous ABCC8 variant, c.1801G>A, p.(Val601Ile). The rare variant was previously reported to be diazoxide-responsive, and the patient responded well to diazoxide monotherapy, with clinical remission at 2 years of age. Patient 2 responded to diazoxide with spontaneous clinical remission at 15 months of age. However, an oral glucose tolerance test at 7 years of age revealed hyperinsulinism. Genetic testing revealed that the proband and several seemingly healthy family members harbored a novel, heterozygous ABCC8 variant, c.1780T>C, p.(Ser594Pro). Genetic findings identified previously unrecognized HH in the proband’s mother. The proband’s uncle had been diagnosed with monogenic ABCC8-diabetes and was successfully transitioned from insulin to glibenclamide therapy. We report findings of intestinal malrotation and volvulus occurring 2 days after initiation of diazoxide treatment. We also report a novel, heterozygous ABCC8 variant in a family that exhibited cases of CHI in infancy and HH and monogenic diabetes in adult members. The cases demonstrate the importance and clinical utility of genetic analyses for informing and guiding treatment and care.
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Maria-Christina Antoniou,Thérèse Bouthors,Cheng Xu,Franziska Phan-Hug,Eglantine Elowe-Gruau,Sophie Stoppa-Vaucher,Almer van der Sloot,James Acierno,Daniele Cassatella,Celine Richard,Andrew Dwyer,Nelly 대한소아내분비학회 2019 Annals of Pediatirc Endocrinology & Metabolism Vol.24 No.1
Mutations in the CHD7 gene, encoding for the chromodomain helicase DNAbinding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Developmental milestones were normally achieved. At age 14 his height and weight were -2.04 and -1.74 standard deviation score respectively. He had anosmia as well as prepubertal testes and micropenis (4 cm×1 cm). The biological profile showed low basal serum testosterone and gonadotropins (testosterone, 0.2 nmol/L; luteinizing hormone, 0.5 U/L; follicle-stimulating hormone, 1.3 U/L), and otherwise normal pituitary function and normal imaging of the hypothalamic-pituitary area. The constellation of choanal atresia, anosmia, mild dysmorphic features, micropenis and delayed puberty were suggestive of CHARGE syndrome. Targeted genetic testing of CHD7 was performed revealing a de novo heterozygous CHD7 mutation (c.4234T>G [p.Tyr1412Asp]). Further paraclinical investigations confirmed CHARGE syndrome. Despite the presence of suggestive features, CHARGE syndrome remained undiagnosed in this patient until adolescence. Genetic testing helps clarify the phenotypic and genotypic spectrum to facilitate diagnosis, thus promoting optimal follow-up, treatment, and appropriate genetic counselling.