Flocculation of Cellulose Microfiber and Nanofiber Induced by Chitosan-Xylan Complexes.

This study aims to provide a comprehensive understanding of the key factors influencing the rheological behavior and the mechanisms of natural polyelectrolyte complexes (PECs) as flocculation agents for cellulose microfibers (CMFs) and nanofibers (CNFs). PECs were formed by combining two polyelectrolytes: xylan (Xyl) and chitosan (Ch), at different Xyl/Ch mass ratios: 60/40, 70/30, and 80/20. First, Xyl, Ch, and PEC solutions were characterized by measuring viscosity, critical concentration (c*), rheological parameter, ζ-potential, and hydrodynamic size. Then, the flocculation mechanisms of CMF and CNF suspensions with PECs under dynamic conditions were studied by measuring viscosity, while the flocculation under static conditions was examined through gel point measurements, floc average size determination, and ζ-potential analysis. The findings reveal that PEC solutions formed with a lower xylan mass ratio showed higher intrinsic viscosity, higher hydrodynamic size, higher z-potential, and a lower c*. This is due to the high molecular weight, charge, and gel-forming ability. All the analyzed solutions behave as a typical non-Newtonian shear-thinning fluid. The flocculation mechanisms under dynamic conditions showed that a very low dosage of PEC (between 2 and 6 mg PEC/g of fiber) was sufficient to produce flocculation. Under dynamic conditions, an increase in viscosity indicates flocculation at this low PEC dosage. Finally, under static conditions, maximum floc sizes were observed at the same PEC dosage where minimum gel points were reached. Higher PEC doses were required for CNF suspensions than for CMF suspensions.

Comparative Study on the Stiffness of Poly(lactic acid) Reinforced with Untreated and Bleached Hemp Fibers.

Composite materials containing natural reinforcement fibers, generally called biocomposites, have attracted the interest of both researchers and manufacturers, but the most environmentally advantageous combinations include a bio-based matrix, as well. With this in mind, a poly(lactic acid) (PLA) matrix was reinforced with natural fibers from hemp, both untreated strands (UHSs) and soda-bleached fibers (SBHFs). The preparation of the subsequent fully bio-sourced, discontinuously reinforced composites involved kinetic mixing, intensive single-screw extrusion, milling, and injection molding. Up to a fiber content of 30 wt%, the tensile modulus increased linearly with the volume fraction of the dispersed phase. Differences between SBHFs (up to 7.6 Gpa) and UHSs (up to 6.9 Gpa) were hardly significant (p = 0.1), but SBHF-reinforced composites displayed higher strain at failure. In any case, for the same fiber load (30 wt%), the Young's modulus of PLA/hemp biocomposites was greater than that of glass fiber (GF)-reinforced polypropylene (5.7 GPa), albeit lower than that of PLA/GF (9.8 GPa). Considering all the measurements, the contribution of each phase was analyzed by applying the Hirsch model and the Tsai-Pagano model. As a concluding remark, although the intrinsic tensile modulus of SBHFs was lower than that of GF, the efficiency of those natural fibers as reinforcement (according to the rule of mixtures) was found to be higher.

Primer reporte en Argentina de variante patógena en DMP1 asociada a raquitismo hipofosfatémico autosómico recesivo / First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets

El raquitismo hipofosfatémico hereditario es una condición genética asociada con una mineralización ósea alterada causada por la deficiencia de fosfato. Produce deformidad esquelética y retraso del crecimiento en la infancia. Se describen diferentes patrones de herencia según el locus involucrado. Dado el solapamiento de los fenotipos y la dificultad en analizar genealogías reducidas, los estudios moleculares son importantes para establecer la causa genética y realizar el abordaje familiar. La forma recesiva del raquitismo hipofosfatémico (ARHR, OMIM #241520) es una condición extremadamente poco frecuente reportada en familias de origen europeo y de Oriente Medio. Las mutaciones con pérdida de función del gen DMP1 (dentin matrix acidic phosphoprotein 1) se asocian al raquitismo hipofosfatémico hereditario tipo 1. En este artículo presentamos el primer reporte de una familia argentina con raquitismo hipofosfatémico hereditario por mutación en DMP1

Hereditary hypophosphatemic rickets is a genetic condition associated with impaired bone mineralization caused by phosphate deficiency. It results in skeletal deformity and growth retardation in early childhood. Different inheritance patterns have been described according to the locus involved. Given the phenotypic overlapping and the difficulty in analyzing reduced genealogies, molecular studies are important to establish the genetic cause and implement a family-centered approach. The autosomal recessive form of hypophosphatemic rickets (ARHR, OMIM 241520) is an extremely rare condition reported in families of European and Middle Eastern descent. Loss-of-function mutations in the DMP1 (dentin matrix acidic phosphoprotein 1) gene are associated with hereditary hypophosphatemic rickets type 1. In this article, we describe the first report of an Argentine family with hereditary hypophosphatemic rickets due to a mutation in the DMP1 gene.

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets. / Primer reporte en Argentina de variante patógena en DMP1 asociada a raquitismo hipofosfatémico autosómico recesivo.

Hereditary hypophosphatemic rickets is a genetic condition associated with impaired bone mineralization caused by phosphate deficiency. It results in skeletal deformity and growth retardation in early childhood. Different inheritance patterns have been described according to the locus involved. Given the phenotypic overlapping and the difficulty in analyzing reduced genealogies, molecular studies are important to establish the genetic cause and implement a family-centered approach. The autosomal recessive form of hypophosphatemic rickets (ARHR, OMIM 241520) is an extremely rare condition reported in families of European and Middle Eastern descent. Loss-of-function mutations in the DMP1 (dentin matrix acidic phosphoprotein 1) gene are associated with hereditary hypophosphatemic rickets type 1. In this article, we describe the first report of an Argentine family with hereditary hypophosphatemic rickets due to a mutation in the DMP1 gene.

El raquitismo hipofosfatémico hereditario es una condición genética asociada con una mineralización ósea alterada causada por la deficiencia de fosfato. Produce deformidad esquelética y retraso del crecimiento en la infancia. Se describen diferentes patrones de herencia según el locus involucrado. Dado el solapamiento de los fenotipos y la dificultad en analizar genealogías reducidas, los estudios moleculares son importantes para establecer la causa genética y realizar el abordaje familiar. La forma recesiva del raquitismo hipofosfatémico (ARHR, OMIM #241520) es una condición extremadamente poco frecuente reportada en familias de origen europeo y de Oriente Medio. Las mutaciones con pérdida de función del gen DMP1 (dentin matrix acidic phosphoprotein 1) se asocian al raquitismo hipofosfatémico hereditario tipo 1. En este artículo presentamos el primer reporte de una familia argentina con raquitismo hipofosfatémico hereditario por mutación en DMP1.

Effect of Oxalic Acid Concentration and Different Mechanical Pre-Treatments on the Production of Cellulose Micro/Nanofibers.

The present work analyzes the effect of process variables and the method of characterization of cellulose micro/nanofibers (CMNFs) obtained by different treatments. A chemical pre-treatment was performed using oxalic acid at 25 wt.% and 50 wt.%. Moreover, for mechanical pre-treatments, a rotary homogenizer or a PFI mill refiner were considered. For the mechanical fibrillation to obtain CMNFs, 5 and 15 passes through a pressurized homogenization were considered. The best results of nanofibrillation yield (76.5%), transmittance (72.1%) and surface charges (71.0 µeq/g CMNF) were obtained using the PFI mill refiner, 50 wt.% oxalic acid and 15 passes. Nevertheless, the highest aspect ratio (length/diameter) determined by Transmission Electron Microscopy (TEM) was found using the PFI mill refiner and 25 wt.% oxalic acid treatment. The aspect ratio was related to the gel point and intrinsic viscosity of CMNF suspensions. The values estimated for gel point agree with those determined by TEM. Moreover, a strong relationship between the intrinsic viscosity [η] of the CMNF dispersions and the corresponding aspect ratio (p) was found (ρ[η] = 0.014 p2.3, R2 = 0.99). Finally, the tensile strength of films obtained from CMNF suspensions was more influenced by the nanofibrillation yield than their aspect ratio.

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.

BACKGROUND: Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH). AIM: To explore the functioning of the hypothalamic-pituitary-gonadal axis in the postnatal gonadotropic surge for an early diagnosis of CHH in newborns or infants suspected of having CPHD. SUBJECTS AND METHODS: A cohort of 27 boys under 6 months and 19 girls under 24 months of age with suspected hypopituitarism was studied. Serum concentrations of LH, FSH, testosterone, inhibin B, anti-Müllerian hormone (AMH) and estradiol were measured, and male external genitalia were characterized as normal or abnormal (micropenis, microorchidism and/or cryptorchidism). RESULTS: CPHD was confirmed in 36 out of 46 patients. Low LH and testosterone levels were found in 66% of the hypopituitary males, in significant association with the presence of abnormal external genitalia. This abnormality had a positive predictive value of 93% for CHH. No significant association was observed between serum FSH, AMH and inhibin B and the patient's external genitalia. CONCLUSION: In newborn or infant boys with CPHD, LH and testosterone concentrations measured throughout the postnatal gonadotropic surge, together with a detailed evaluation of the external genital phenotype, facilitate the diagnosis of CHH at an early stage.

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene / Hipertireoidismo congênito não autoimune grave associado com uma mutação no domínio extracelular do gene receptor da tirotrofina

Activating mutations in the TSH Receptor (TSHR) gene have been identified as the molecular basis for congenital non-autoimmune hyperthyroidism. We describe the clinical findings and molecular characterization in a girl who presented severe non-autoimmune hyperthyroidism since birth, born to a mother with autoimmune thyroid disease. She was treated with methylmercaptoimidazol and β-blockers, but remained hyperthyroid and required total thyroidectomy. To characterize the presence of an activating mutation, the whole coding sequence and intron-exon boundaries of TSHR gene were analyzed. The patient was heterozygous for p.Ser281Asn mutation and p.Asp727Glu polymorphism. This recurrent mutation, p.Ser281Asn, characterized in vitro by increased basal production of cAMP, is the unique germline activating gene variant described so far in the extracellular domain of TSH receptor. Interestingly, the patient's mother presented hyperthyroidism but without any TSHR gene activating mutation. Although congenital non-autoimmune hyperthyroidism is a rare condition, it should be investigated when severe disease persists, even in a newborn from an autoimmune hyperthyroid mother, in order to differentiate it from the more common congenital autoimmune disease. Arq Bras Endocrinol Metab. 2012;56(8):513-8.

Mutações ativadoras no gene receptor de TSH (TSHR) foram identificadas como a base molecular do hipertireoidismo congênito não autoimune. Descrevemos os achados clínicos e a caracterização molecular de uma menina que apresentou hipertireoidismo autoimune grave desde o nascimento, nascida de uma mãe com desordem tiroidiana autoimune. Tratada com metilmercaptoimidazol e β-bloqueadores, ela permaneceu com hipertiroidismo e necessitou de tiroidectomia total. A fim de caracterizar a presença da mutação ativadora, foram analisados toda a sequência codificadora assim como os extremos dos íntrons e éxons do gene TSHR. A paciente era heterozigota para a mutação p.Ser281Asn e para o polimorfismo p.Asp727Glu. Essa mutação recorrente, p.Ser281Asn, caracterizada in vitro pelo aumento da produção basal de cAMP, é a única variante genética ativadora da linhagem germinativa descrita até hoje no domínio extracelular do receptor de TSH. Interessantemente, a mãe da paciente apresentou hipertireoidismo sem qualquer mutação ativadora do gene TSHR. Embora o hipertireoidismo congênito não autoimune seja uma condição rara, ele deve ser investigado quando há persistência da doença grave, mesmo em um recém-nascido de uma mãe com hipertireoidismo autoimune, a fim de se diferenciar o caso da forma mais comum da doença autoimune congênita. Arq Bras Endocrinol Metab. 2012;56(8):513-8.

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

Activating mutations in the TSH Receptor (TSHR) gene have been identified as the molecular basis for congenital non-autoimmune hyperthyroidism. We describe the clinical findings and molecular characterization in a girl who presented severe non-autoimmune hyperthyroidism since birth, born to a mother with autoimmune thyroid disease. She was treated with methylmercaptoimidazol and ß-blockers, but remained hyperthyroid and required total thyroidectomy. To characterize the presence of an activating mutation, the whole coding sequence and intron-exon boundaries of TSHR gene were analyzed. The patient was heterozygous for p.Ser281Asn mutation and p.Asp727Glu polymorphism. This recurrent mutation, p.Ser281Asn, characterized in vitro by increased basal production of cAMP, is the unique germline activating gene variant described so far in the extracellular domain of TSH receptor. Interestingly, the patient's mother presented hyperthyroidism but without any TSHR gene activating mutation. Although congenital non-autoimmune hyperthyroidism is a rare condition, it should be investigated when severe disease persists, even in a newborn from an autoimmune hyperthyroid mother, in order to differentiate it from the more common congenital autoimmune disease.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia. Molecular analysis was performed on genomic DNA of the index case and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in the proband; both mother and father had the same mutation in heterozygous state, confirming their FHH condition. The mutation results in a truncated and inactive protein due to the lack of transmembrane and intracellular domains. The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) / Nova mutação no gene CASR em uma família com hipercalcemia hipocalciúrica familiar (HHF) e hiperparatireoidismo neonatal grave (HPTNG)

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia. Molecular analysis was performed on genomic DNA of the index case and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in the proband; both mother and father had the same mutation in heterozygous state, confirming their FHH condition. The mutation results in a truncated and inactive protein due to the lack of transmembrane and intracellular domains. The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.

Mutações inativadoras no gene do sensor do cálcio (CASR) podem causar hipercalcemia hipocalciúrica familiar (HHF) ou hiperparatireoidismo neonatal grave (HPTNSG). A HPTNS representa a forma mais grave da HHF cursando com risco de vida. O objetivo deste estudo foi identificar e caracterizar uma mutação no gene CASR de uma criança do sexo feminino levada ao hospital em decorrência de desidratação, apatia, dificuldade para mamar e hipercalcemia grave. A análise molecular foi realizada a partir do DNA genômico do caso índice e de seus pais. Uma nova mutação em homozigose (p.E519X) foi identificada no caso índice; ambos, mãe e pai, apresentaram a mesma mutação em heterozigose, o que os caracteriza como portadores de HHF. Essa alteração resulta em uma proteína truncada e inativa devido à falta dos domínios transmembrana e intracelular. A identificação dessa nova mutação estabeleceu a causa da hipercalcemia na família e permitiu o aconselhamento genético.