The complete mitochondrial genome of the strawberry aphid Chaetosiphon fragaefolii Cockerell, 1901 (Hemiptera: Aphididae) from California, USA.

The aphid Chaetosiphon fragaefolii Cockerell, 1901 is an agricultural pest and known vector of strawberry viruses. To better understand its biology and systematics, we performed a genomic analysis on C. fragaefolii collected from Quinalt strawberry plants from Pacific Grove, Monterey county, California, USA using Oxford Nanopore and Illumina sequencing. The resulting data were used to assemble the aphids complete mitogenome. The mitogenome of C. fragaefolii is 16,108 bp in length and contains 2 rRNA, 13 protein-coding, and 22 tRNA genes (GenBank accession number LC590896). The mitogenome is similar in content and organization to other Aphididae. Phylogenetic analysis of the C. fragaefolii mitogenome resolved it in a fully supported clade in the tribe Macrosiphini. Analysis of the cox1 barcode sequence of C. fragaefolii from California found exact and nearly identical sequences to C. fragaefolii and Chaetosiphon thomasi Hille Ris Lambers, 1953, suggesting the two species are conspecific.

Algoritmo para el diagnóstico de pacientes con trastornos del neurodesarrollo y sospecha de un síndrome genético / Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.

Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome. / Algoritmo para el diagnóstico de pacientes con trastornos del neurodesarrollo y sospecha de un síndrome genético.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), WilliamsBeuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.

The role of vasodilator-stimulated phosphoprotein (VASP) in the control of hepatic gluconeogenic gene expression.

During periods in which glucose absorption from the gastrointestinal (GI) tract is insufficient to meet body requirements, hepatic gluconeogenesis plays a key role to maintain normal blood glucose levels. The current studies investigated the role in this process played by vasodilatory-associated phosphoprotein (VASP), a protein that is phosphorylated in hepatocytes by cAMP/protein kinase A (PKA), a key mediator of the action of glucagon. We report that following stimulation of hepatocytes with 8Br-cAMP, phosphorylation of VASP preceded induction of genes encoding key gluconeogenic enzymes, glucose-6-phosphatase (G6p) and phosphoenolpyruvate carboxykinase (Pck1), and that VASP overexpression enhanced this gene induction. Conversely, hepatocytes from mice lacking VASP (Vasp-/-) displayed blunted induction of gluconeogenic enzymes in response to cAMP, and Vasp-/- mice exhibited both greater fasting hypoglycemia and blunted hepatic gluconeogenic enzyme gene expression in response to fasting in vivo. These effects of VASP deficiency were associated with reduced phosphorylation of both CREB (a key transcription factor for gluconeogenesis that lies downstream of PKA) and histone deacetylase 4 (HDAC4), a combination of effects that inhibit transcription of gluconeogenic genes. These data support a model in which VASP functions as a molecular bridge linking the two key signal transduction pathways governing hepatic gluconeogenic gene expression.

VASP increases hepatic fatty acid oxidation by activating AMPK in mice.

Activation of AMP-activated protein kinase (AMPK) signaling reduces hepatic steatosis and hepatic insulin resistance; however, its regulatory mechanisms are not fully understood. In this study, we sought to determine whether vasodilator-stimulated phosphoprotein (VASP) signaling improves lipid metabolism in the liver and, if so, whether VASP's effects are mediated by AMPK. We show that disruption of VASP results in significant hepatic steatosis as a result of significant impairment of fatty acid oxidation, VLDL-triglyceride (TG) secretion, and AMPK signaling. Overexpression of VASP in hepatocytes increased AMPK phosphorylation and fatty acid oxidation and reduced hepatocyte TG accumulation; however, these responses were suppressed in the presence of an AMPK inhibitor. Restoration of AMPK phosphorylation by administration of 5-aminoimidazole-4-carboxamide riboside in Vasp(-/-) mice reduced hepatic steatosis and normalized fatty acid oxidation and VLDL-TG secretion. Activation of VASP by the phosphodiesterase-5 inhibitor, sildenafil, in db/db mice reduced hepatic steatosis and increased phosphorylated (p-)AMPK and p-acetyl CoA carboxylase. In Vasp(-/-) mice, however, sildendafil treatment did not increase p-AMPK or reduce hepatic TG content. These studies identify a role of VASP to enhance hepatic fatty acid oxidation by activating AMPK and to promote VLDL-TG secretion from the liver.

Hipogammaglobulinemia congénita asociada con trastornos de los granulocitos.: Presentación de un caso / Congenital hypogammaglobulinemia associated with granulocyte disorders.: A case presentation

Se reporta el caso de un niño de 11 meses de edad con historia de sepsis generalizada por Pseudomona aeruginosa a los 5 meses, neutropenia, leucopenia, anemia asociada con la sepsis y desde entonces, infecciones respiratorias agudas recurrentes del tracto respiratorio superior, manifestaciones alérgicas y forunculosis por pseudomona. El estudio inmunológico realizado mostró cifra disminuida de IgG con ligero incremento de IgM y valores normales de IgA y de la población de células B CD19+, así como disminución de la subpoblación de células T cooperadoras CD4+. Se encontró, además, neutropenia y defecto marcado de la fagocitosis. Se estableció el diagnóstico de hipogammaglobulinemia congénita asociada con trastornos de los granulocitos. El paciente recibió tratamiento con gammaglobulina humana por vía intramuscular, factor de transferencia e inmunoferón, con mejoría clínica evidente.

This is the case of a child aged 11 months with a history of systemic sepsis from Pseudomona aeruginosa at 5 months, neutropenia, leucopenia, sepsis-associated anemia and from then, recurrent acute respiratory infections of the high respiratory tract, allergic manifestations and furunculosis from pseudomona. Immunologic study conducted showed a decreased figure of IgG with a light increase of CD4+ cooperative-IgM of T cells. Also, we found the presence of neutropenia and marked defect of phagocytosis. We made the diagnosis of granulocyte-associate congenital hypogammaglobulinemia. The patient was treated with human gamma globulin by intramuscular route, transference factor and immunoferon, with an obvious improvement.

Hipogammaglobulinemia congénita asociada con trastornos de los granulocitos: presentación de un caso / Congenital hypogammaglobulinemia associated with granulocyte disorders: a case presentation

Se reporta el caso de un niño de 11 meses de edad con historia de sepsis generalizada por Pseudomona aeruginosa a los 5 meses, neutropenia, leucopenia, anemia asociada con la sepsis y desde entonces, infecciones respiratorias agudas recurrentes del tracto respiratorio superior, manifestaciones alérgicas y forunculosis por pseudomona. El estudio inmunológico realizado mostró cifra disminuida de IgG con ligero incremento de IgM y valores normales de IgA y de la población de células B CD19+, así como disminución de la subpoblación de células T cooperadoras CD4+. Se encontró, además, neutropenia y defecto marcado de la fagocitosis. Se estableció el diagnóstico de hipogammaglobulinemia congénita asociada con trastornos de los granulocitos. El paciente recibió tratamiento con gammaglobulina humana por vía intramuscular, factor de transferencia e inmunoferón, con mejoría clínica evidente(AU)

This is the case of a child aged 11 months with a history of systemic sepsis from Pseudomona aeruginosa at 5 months, neutropenia, leucopenia, sepsis-associated anemia and from then, recurrent acute respiratory infections of the high respiratory tract, allergic manifestations and furunculosis from pseudomona. Immunologic study conducted showed a decreased figure of IgG with a light increase of CD4+ cooperative-IgM of T cells. Also, we found the presence of neutropenia and marked defect of phagocytosis. We made the diagnosis of granulocyte-associate congenital hypogammaglobulinemia. The patient was treated with human gamma globulin by intramuscular route, transference factor and immunoferon, with an obvious improvement(AU)