Diabetic Peripheral Neuropathy

Diabetic autonomic neuropathies (DAN) are clinical syndromes resulting from impairments of the autonomic nervous system in patients with diabetes mellitus. Since the autonomic nervous system innervates most body organs, any or all of those organs may be affected by DAN. A high index of suspicion is the best diagnostic tool. Proper management, with patient and family education in its center, improves the quality of life of persons with DAN. Undiagnosed and ignored, DAN could cause severe disability and even death.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/68591/2/10.1177_014572178701300208.pd

Características clínicas y genéticas de un paciente con síndrome de Noonan y una mutación de novo en el gen MAP2K1: Reporte de caso

Background: Noonan syndrome is a genetic disorder mostly related to PTPN11 gene mutation. Report Case: Newborn male of 34 weeks of gestational age with obstetric ultrasounds showing cystic hygroma, bilateral renal hydronephrosis, and polyhydramnios. At born, he presented nuchal edema, wide nose, low-set ears, and right cryptorchidism. Additionally, he presented atrial septum defect, absence of inferior vena cava, mild pulmonary hypertension, persistent ductus arteriosus, and respiratory distress. The result of the 14-gene panel analysis showed a MAP2K1 gene mutation and a variation of uncertain significance in the CBL gene, confirming the diagnosis of PTPN11-negative Noonan syndrome. During the follow-up, he was additionally diagnosed with blepharoptosis of left eye and gastroesophageal reflux disease. Conclusion: This report highlights the wide variety of phenotypical characteristics in a Noonan syndrome patient, which was suspected upon birth and developed during the follow-up. Antecedentes: El síndrome de Noonan es un trastorno genético relacionado principalmente con la mutación del gen PTPN11. Reporte del caso: Recién nacido varón de 34 semanas de edad gestacional con ultrasonidos obstétricos que muestran higroma quístico, hidronefrosis renal bilateral, y polihidramnios. Al nacimiento, presentó edema nucal, puente nasal ancho, pabellón auricular de implantación baja, y criptorquidia derecha. Además, defecto del tabique auricular, ausencia de vena cava inferior, hipertensión pulmonar, conducto arterioso persistente y dificultad respiratoria. El resultado del análisis del panel de 14 genes mostró una mutación del gen MAP2K1 y una variante de significado incierto en el gen CBL, confirmando el diagnóstico del síndrome de Noonan negativo para PTPN11. Durante el seguimiento, también se le diagnosticó blefaroptosis izquierda y reflujo gastroesofágico. Conclusión: El presente caso destaca la amplia variedad de características fenotípicas en un paciente con síndrome de Noonan, con sospecha al nacimiento y confirmado durante el seguimiento.

Development-Related miRNA Expression and Target Regulation during Staggered In Vitro Plant Regeneration of Tuxpeño VS-535 Maize Cultivar

In vitro plant regeneration addresses basic questions of molecular reprogramming in the absence of embryonic positional cues. The process is highly dependent on the genotype and explant characteristics. However, the regulatory mechanisms operating during organ differentiation from in vitro cultures remain largely unknown. Recently, miRNAs have emerged as key regulators during embryogenic callus induction, plant differentiation, auxin responses and totipotency. Here, we explored how development-related miRNA switches the impact on their target regulation depending on physiological and molecular events taking place during maize Tuxpeño VS-535 in vitro plant regeneration. Three callus types with distinctive regeneration potential were characterized by microscopy and histological preparations. The embryogenic calli (EC) showed higher miRNA levels than non-embryogenic tissues (NEC). An inverse correlation for miR160 and miR166 targets was found during EC callus induction, whereas miR156, miR164 and miR394 displayed similar to their targets RNA accumulation levels. Most miRNA accumulation switches took place early at regenerative spots coincident with shoot apical meristem (SAM) establishment, whereas miR156, miR160 and miR166 increased at further differentiation stages. Our data uncover particular miRNA-mediated regulation operating for maize embryogenic tissues, supporting their regulatory role in early SAM establishment and basipetala growth during the in vitro regeneration process