A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.

BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail. CASE PRESENTATION: Herein, we identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C > A, p.S1178X) in a sporadic 4-year-old Chinese girl, who presented with Claes-Jensen type-like phenotypes, such as moderate developmental delay, serious expressive language delay, short stature, microcephaly, and typical facial particularities. Moreover, X-chromosome inactivation (XCI) analysis showed no significant skewed X-inactivation. CONCLUSION: The report expands the genotype of KDM5C variation in female patients, delineates the phenotype of affected females in this well-known X-linked disorder, and also reinforces the necessity to consider this X-linked gene, KDM5C, in sporadic female patients.

Catalyst-free synthesis of crumpled boron and nitrogen co-doped graphite layers with tunable bond structure for oxygen reduction reaction.

Two-dimensional materials based on ternary system of B, C and N are useful ranging from electric devices to catalysis. The bonding arrangement within these BCN nanosheets largely determines their electronic structure and thus chemical and (or) physical properties, yet it remains a challenge to manipulate their bond structures in a convenient and controlled manner. Recently, we developed a synthetic protocol for the synthesis of crumpled BCN nanosheets with tunable B and N bond structure using urea, boric acid and polyethylene glycol (PEG) as precursors. By carefully selecting the synthesis condition, we can tune the structure of BCN sheets from s-BCN with B and N bond together to h-BCN with B and N homogenously dispersed in BCN sheets. Detailed experiments suggest that the final bond structure of B and N in graphene depends on the preferentially doped N structure in BCN nanosheets. When N substituted the in-plane carbon atom with all its electrons configured into the π electron system of graphene, it facilitates the formation of h-BCN with B and N in separated state. On the contrary, when nitrogen substituted the edge-plane carbon with the nitrogen dopant surrounded with the lone electron pairs, it benefits for the formation of B-N structure. Specially, the compound riched with h-BCN shows excellent ORR performance in alkaline solution due to the synergistic effect between B and N, while s-BCN dominant BCN shows graphite-like activity for ORR, suggesting the intrinsic properties differences of BCN nanosheets with different dopants bond arrangement.

Traitement chirurgical de l'hysteromyome

L'hyteromyome est l'une des tumeurs les plus frequentes de l'appareil genital femelle. C'est une hypertrophie benigne due a une stimulation permanente de l'uterus par les oestrogenes. Le myome est unique ou multifocal. Il peut sieger dans la couche musculaire de l'uterus ou sur la sereuse; se manifestant par une masse hypogastrique. Souvent les myomes uterins ne presentent aucun symptome. Au cas ou la tumeur se developpe sur l'endometrium; elle peut prolonger la periode de menstruation ou entrainer une hemorragie non periodique du vagin entrainant une anemie chez la concernee. Certaines femmes peuvent presenter des douleurs hypogastriques. Aussi l'infertilite est souvent rencontree chez les femmes d'ages moyens. L'hysterectomie est la methode principale et la plus utilisee dans le traitement des myomes de l'uterus. L'efficacite du traitement chirurgical des hysteomyomes et le pronostic post-operatoire dependent tous de la procedure chirurgicale adoptee. Le present article se propose d'analyser le traitement chirurgical de 56 cas de myome uterin