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1.
Org Lett ; 25(28): 5361-5365, 2023 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-37436188

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-31259051

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-26384151

RESUMO

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.


Assuntos
Glândulas Suprarrenais/diagnóstico por imagem , Glândulas Suprarrenais/virologia , Transtornos do Desenvolvimento Sexual/diagnóstico por imagem , Hiperpotassemia/diagnóstico por imagem , Hiponatremia/diagnóstico por imagem , Rim/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , Ultrassonografia
5.
Gene ; 506(2): 387-91, 2012 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-22771923

RESUMO

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.


Assuntos
Transtornos Cromossômicos/genética , Trissomia , Pré-Escolar , Deleção Cromossômica , Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 4 , Cromossomos Humanos Par 6/genética , Feminino , Deleção de Genes , Cardiopatias Congênitas/genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Modelos Genéticos , Gravidez
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