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1.
Org Lett ; 25(28): 5361-5365, 2023 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-37436188

RESUMEN

The palladium-catalyzed synthesis of bis-heterocyclic spirocycles containing both pyrroline and indoline motifs is reported. Di-tert-butyldiaziridinone is used to functionalize palladacycles generated in situ via domino Narasaka-Heck/C-H activation reactions. The reaction is readily scalable, and the spirocyclic products can undergo deprotection, reduction, and (3 + 2) cycloadditions, highlighting their synthetic utility. Additionally, kinetic isotope effect experiments support a turnover-limiting C-H functionalization step in the catalytic cycle.

2.
Biomed Opt Express ; 10(6): 2784-2794, 2019 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-31259051

RESUMEN

Necrotizing enterocolitis (NEC) is the most common gastrointestinal emergency of the preterm infant. Low abdominal tissue oxygen saturation (StO2) measured by near-infrared spectroscopy (NIRS) oximetry may be an early sign of NEC relevant for treating or even preventing NEC. However, current commercial NIRS oximeters provide inaccurate StO2 readings because they neglect stool as an abdominal absorber. To tackle this problem, we determined the optical properties of faeces of preterm infants to enable a correct abdominal StO2 measurement. In 25 preterm born infants (median age 31 0/7 ± 2 1/7 weeks, weight 1478 ± 511 g), we measured their first five stool probes with a VIS/NIR spectrometer and calculated the optical properties using the Inverse Adding Doubling (IAD) method. We obtained two absorption spectra representing meconium and transitional stool. Probabilistic cluster analysis correctly classified 96 out of 107 stool probes. The faeces spectra need to be considered to enable correct abdominal StO2 measurements with NIRS oximetry.

3.
Acta Paediatr ; 105(2): e85-8, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26384151

RESUMEN

UNLABELLED: The major differential diagnosis in 'salt-wasting' infants (characterised by hyponatraemia and hyperkalaemia) is that of an adrenal or renal disorder. Appropriate management relies on rapid diagnosis, but existing guidelines do not highlight the role of ultrasonography. We describe how ultrasound may lead to a more rapid diagnosis in disorders of sex development (DSD) and other potential 'salt-wasting' infants. CONCLUSION: Ultrasonography as a diagnostic tool in infants with salt-wasting or DSD needs to be more widely recognised.


Asunto(s)
Glándulas Suprarrenales/diagnóstico por imagen , Glándulas Suprarrenales/virología , Trastornos del Desarrollo Sexual/diagnóstico por imagen , Hiperpotasemia/diagnóstico por imagen , Hiponatremia/diagnóstico por imagen , Riñón/diagnóstico por imagen , Diagnóstico Diferencial , Humanos , Lactante , Recién Nacido , Ultrasonografía
4.
Gene ; 506(2): 387-91, 2012 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-22771923

RESUMEN

Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (CGH) cause 4q- syndrome. Here we describe 3 cases of 4q- syndrome which demonstrate the variations in clinical presentation, diagnosis and prognosis observed in this condition. Patient 1 was a female foetus diagnosed with del(4)(q33) following chorionic villus sampling (CVS) at 14 weeks, and the pregnancy was terminated at 18 weeks. Patient 2 was a 5-month-old boy with del(4)(q31.3) and complex congenital heart disease. He also had a duplication of chromosome 6p and died of cardiac failure. Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(q22.1q23). She has no major malformations and only slight developmental delay.


Asunto(s)
Trastornos de los Cromosomas/genética , Trisomía , Preescolar , Deleción Cromosómica , Mapeo Cromosómico/métodos , Cromosomas Humanos Par 4 , Cromosomas Humanos Par 6/genética , Femenino , Eliminación de Gen , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Modelos Genéticos , Embarazo
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