Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Purpose: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited.

Methods: Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.

Ovarian tissue cryopreservation for fertility preservation before hematopoietic stem cell transplantation in patients with sickle cell disease: safety, ovarian function follow-up, and results of ovarian tissue transplantation.

Purpose: To describe the experience of performing ovarian tissue cryopreservation (OTC) before hematopoietic stem cell transplantation (HSCT), among girls/women with severe sickle cell disease (SCD)(SS or S/β-thalassemia) who are, besides the usual surgical risk, at risk of SCD-related complications during the fertility preservation procedure for improving their counseling and management.

Methods: This retrospective study included 75 patients (girls/women) with SCD who have had OTC before myeloablative conditioning regimen (MAC) for HSCT. Characteristics of patients and data on OTC, ovarian status follow-up, and results of ovarian tissue transplantation (OTT) were collected in medical records.

Dysmenorrhea among 12-year-old teenagers from different socioeconomic backgrounds.

Background: The age of menarche has been gradually declining since the end of the 20th century. Few studies have been carried out about dysmenorrhea in Europe and they mainly included girls over the age of 15 years.

Methods: We conducted an observational study among sixth-grade schoolgirls (usually 11-12 years) during the 2020 academic year in 72 randomly selected public schools in a French region (approval number #20.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH.

Synthesis of γ-Lactams by Formal Cycloadditions with Ketenes.

The synthesis of γ-lactams is reported by a formal (3+2) cycloaddition between readily available ketenes and aziridines or a one-pot formal (2+1+2) cycloaddition using imines as aziridine precursors. The method is practical, is scalable, and affords high yields. It also offers a high level of regio- and diastereoselectivity on a wide range of substrates as well as a high stereoselectivity in the case of enantiopure aziridines.

Stories of contemporary aging: An analysis of "lived" citizenship in later life.

The new political economy of aging portrays "active citizenship" among seniors as a key challenge for the years to come. As a policy framework, Active Aging ranks high on the agendas of most supranational bodies. Informed by discourse analysis and a narrative approach, this article focuses on, first, older women's everyday "active" practices, their meaning, and purpose and second, their day-to-day practical citizenship and social engagement experiences.

[Meaning and practice of grandmotherhood: a theoretical study based on older women in Quebec].

This article sets out to analyze how older women understand grandmotherhood. In-depth interviews were conducted with 25 elderly women from Quebec with diverse lives (widowed, married, single, with or without children) drawn from three generations (65-74 years, 75-84 years, 85 years and over) according to principles of qualitative analysis using grounded theory. Based on a constructivist approach, results highlight the evolution of images of grandmotherhood offering the benefit of emotional, playful and comforting roles.

Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents.

Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions.

Method: In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients.

Risk of corrected QT interval prolongation after pamidronate infusion in children.

Background: Hypocalcemia carries a risk of cardiac conduction incidents and death. Hypocalcemia is a frequent adverse effect of pamidronate.

Objective: The objective of this study was to investigate whether pamidronate infusion lengthens the ventricular repolarization in children.

[Disseminated BCG infection revealing X-linked severe combined immunodeficiency].

Background: Live attenuated Bacillus Calmette-Guérin (BCG) vaccine is rarely responsible for disseminated infection. We report a case of X-linked severe combined immunodeficiency (SCID) revealed by a disseminated skin infection.

Patients And Methods: A 4-month-old baby was hospitalized for prolonged gastroenteritis.

Quantitative assessment of human muscle glycogen granules size and number in subcellular locations during recovery from prolonged exercise.

Although data relating to muscle glycogen are interpreted as showing it is homogenous when quantified biochemically, it is actually in granules in specific subcellular locations. We hypothesized that postexercise restoration of muscle glycogen would occur initially by an increase in granule number followed by an increase in size, and also that restoration would differ in various subcellular locations. Five men performed prolonged exercise and had muscle biopsies taken at 0, 4, 24 and 48 h of recovery.

Expression of the RND-type efflux pump AdeABC in Acinetobacter baumannii is regulated by the AdeRS two-component system.

The AdeABC pump of Acinetobacter baumannii BM4454, which confers resistance to various antibiotic classes including aminoglycosides, is composed of the AdeA, AdeB, and AdeC proteins; AdeB is a member of the RND superfamily. The adeA, adeB, and adeC genes are contiguous and adjacent to adeS and adeR, which are transcribed in the opposite direction and which specify proteins homologous to sensors and regulators of two-component systems, respectively (S. Magnet, P.

Quantification of subcellular glycogen in resting human muscle: granule size, number, and location.

A few qualitative investigations suggested that location of muscle glycogen (G) granules in specific sites may be associated with distinct metabolic roles. Similarly, it has been suggested that the acid-soluble and -insoluble G fractions (macro- and proglycogen, respectively) are different metabolic pools and also could exist as separate entities. We employed a transmission electron microscopic technique to quantify subcellular G particle size, number, and location in human vastus lateralis biopsies of 11 resting men.

Autoregulation allows Escherichia coli RNase E to adjust continuously its synthesis to that of its substrates.

The Escherichia coli endonuclease RNase E plays a key role in rRNA maturation and mRNA decay. In particular, it controls the decay of its own mRNA by cleaving it within the 5'-untranslated region (UTR), thereby autoregulating its synthesis. Here, we report that, when the synthesis of an RNase E substrate is artificially induced to high levels in vivo, both the rne mRNA concentration and RNase E synthesis increase abruptly and then decrease to a steady-state level that remains higher than in the absence of induction.

Bacteriophage T7 protein kinase phosphorylates RNase E and stabilizes mRNAs synthesized by T7 RNA polymerase.

The T7 protein encoded by the early gene 0.7 exhibits bifunctional activity. Whereas its C-terminal one-third participates in host transcription shut-off, the N-terminal two-thirds bears a protein kinase ('PK') activity that can phosphorylate a number of host proteins in addition to itself.

Gender differences in temperature and vascular characteristics during exercise recovery.

Temperature and vascular responses during exercise recovery were examined in men and women of similar age and fitness status (VO2max: 76 +/- 5 vs 73 +/- 5 mL O2 / kg Fat Free Mass x min). Forearm blood flow (venous occlusion plethysmography; FBF), rectal (Trectal) and forearm skin (Tskin) temperatures (degree C) were measured before and every 15 min up to 105 min (t105) during recovery from a 45-min run at 75% of VO2max. Results indicate Trectal decreased to pre-exercise levels within 25 min in men but reached and remained at values lower than baseline between 60 and 105 min of recovery in women.

Pro- and macroglycogenolysis during repeated exercise: roles of glycogen content and phosphorylase activation.

This study examined the relationship between preexercise muscle glycogen content and glycogen utilization in two physiological pools, pro- (PG) and macroglycogen (MG). Male subjects (n = 6) completed an exercise and dietary protocol before the experiment that resulted in one leg with high glycogen (HL) and one with low glycogen (LL). Preexercise PG levels were 312 +/- 29 and 208 +/- 31 glucosyl units/kg dry wt (dw) (P < or = 0.

Pro- and macroglycogenolysis: relationship with exercise intensity and duration.

We examined the net catabolism of two pools of glycogen, proglycogen (PG) and macroglycogen (MG), in human skeletal muscle during exercise. Male subjects (n = 21) were assigned to one of three groups. Group 1 exercised 45 min at 70% maximal O(2) uptake (VO(2 max)) and had muscle biopsies at rest, 15 min, and 45 min.

High-level autoenhanced expression of a single-copy gene in Escherichia coli: overproduction of bacteriophage T7 protein kinase directed by T7 late genetic elements.

Bacteriophage T7 early gene 0.7 assists phage growth under suboptimal conditions ('helper' function). Whereas the C-terminal one-third of the encoded protein participates in host transcription shutoff, the N-terminal two-thirds harbours a protein kinase ('PK') activity with broad specificity.

Glycogenin activity in human skeletal muscle is proportional to muscle glycogen concentration.

The de novo biosynthesis of glycogen is catalyzed by glycogenin, a self-glucosylating protein primer. To date, the role of glycogenin in regulating glycogen metabolism and the attainment of maximal glycogen levels in skeletal muscle are unknown. We measured glycogenin activity after enzymatic removal of glucose by alpha-amylase, an indirect measure of glycogenin amount.

The C-terminal half of RNase E, which organizes the Escherichia coli degradosome, participates in mRNA degradation but not rRNA processing in vivo.

RNase E is an essential Escherichia coli endonuclease, which controls both 5S rRNA maturation and bulk mRNA decay. While the C-terminal half of this 1061-residue protein associates with polynucleotide phosphorylase (PNPase) and several other enzymes into a 'degradosome', only the N-terminal half, which carries the catalytic activity, is required for growth. We characterize here a mutation (rne131 ) that yields a metabolically stable polypeptide lacking the last 477 residues of RNAse E.

Gender differences in cardiovascular and catecholamine responses to cold-air exposure at rest.

Metabolic and cardiovascular responses were examined in 8 men and 9 women during 2 hrs of sitting at rest in 5 degrees C. The men and women had similar body fatness and both groups responded with similar changes relative to control in cardiac output, blood pressure, total peripheral resistance, VO2, respiratory exchange ratio, and rectal temperature. However, greater increases in stroke volume and decreases in heart rate and skin temperature were observed in men compared to women (p < 0.

Translation inhibitors stabilize Escherichia coli mRNAs independently of ribosome protection.

Translation inhibitors such as chloramphenicol in prokaryotes or cycloheximide in eukaryotes stabilize many or most cellular mRNAs. In Escherichia coli, this stabilization is ascribed generally to the shielding of mRNAs by stalled ribosomes. To evaluate this interpretation, we examine here how inhibitors affect the stabilities of two untranslated RNAs, i.