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1.
Eur J Neurol ; 31(1): e16076, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37754673

RESUMEN

BACKGROUND AND PURPOSE: Nitrous oxide (N2 O) induced neurological symptoms are increasingly encountered. Our aim is to provide clinical and diagnostic characteristics with a focus on electrodiagnostic studies. METHODS: Patients with neurological sequelae due to N2 O presenting in our hospital between November 2018 and December 2021 reporting clinical and diagnostic data were retrospectively reviewed. RESULTS: Seventy patients (median 22 years) were included. Median N2 O usage was 4 kg/week during 12 months. Patients' history revealed a higher rate of sensory symptoms compared to motor (97% vs. 57%) and 77% walking difficulties. Clinical diagnosis was polyneuropathy (PNP) in 44%, subacute combined degeneration (SCD) of the spine in 19%, both in 37%. Median vitamin B12 level was low (159 pmol/L), normal in 16%. The median methylmalonic acid was increased (2.66 µmol/L). Electrodiagnostic abnormalities were observed in 91%, with 72% fulfilling axonal PNP criteria, 20% showing mild to intermediate slowing. One patient fulfilled demyelinating PNP criteria not related to N2 O abuse (Charcot-Marie-Tooth type 1a). More prominent motor nerve conduction abnormalities were found; lower limbs were more affected. In 64% with normal conduction, myography showed signs of axonal loss. Magnetic resonance imaging showed cervical myelopathy in 58% involving generally five to six segments. CONCLUSIONS: Nitrous oxide (N2 O) leads to neurological symptoms by causing PNP and/or SCD primarily involving the legs. Distinguishing PNP and SCD clinically was shown to be insufficient. Electrodiagnostic studies showed axonal PNP. Demyelinating PNP due to N2 O abuse was not present in our cohort. Therefore, further diagnostic work-up is warranted if demyelinating features are present.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Polineuropatías , Degeneración Combinada Subaguda , Humanos , Degeneración Combinada Subaguda/diagnóstico , Degeneración Combinada Subaguda/inducido químicamente , Degeneración Combinada Subaguda/complicaciones , Óxido Nitroso/efectos adversos , Estudios Retrospectivos , Polineuropatías/inducido químicamente , Polineuropatías/diagnóstico , Polineuropatías/complicaciones , Enfermedad de Charcot-Marie-Tooth/complicaciones
2.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(7): 1154-1161, 2022 Jul 10.
Artículo en Chino | MEDLINE | ID: mdl-35856214

RESUMEN

Phenome-wide association study (PheWAS) is a reverse genetic analysis method to identify the potential phenotypes associated with genetic variations. With the increasing availability of biomedical databases and electronic medical records (EMR), PheWAS has gradually become an effective tool to unveil the relationships between exposure and a broad range of health phenotypes. The unique advantage of this method is that it can simultaneously explore the associations of a specific exposure with a variety of disease outcomes, thus helping to reveal multiple causal relationships and the shared pathogenic mechanisms among diseases. However, PheWAS has limitations, including selecting instrumental variables and the heavy burden of various corrections. In addition, how to interpret the biological mechanisms underlying significant findings is another crucial issue of PheWAS. This review will focus on the methodology and application of PheWAS to provide meaningful suggestions and insights for future studies.


Asunto(s)
Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido Simple , Fenotipo
3.
Genet Mol Res ; 16(1)2017 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-28198499

RESUMEN

Chitinases are important disease-related proteins that play critical roles in plant defense against disease. To investigate the function of chitinases in the resistance of Hami melon to Penicillium infection, the gene encoding chitinases, HmCHT-2, was cloned and RT-PCR was used to measure expression levels of HmCHT-2. When the Hami melon was infected by Penicillium sp after 0, 12, 36, 48, 60, and 72 h. The results showed that comparing to the control group, the time of expression levels reaching to the peak delayed and the expression levels maintained at a significantly high level for a longer time. These results suggest that HmCHT-2 may contribute to the defense of Hami melon against fungal infection.


Asunto(s)
Quitinasas/genética , Cucurbitaceae/genética , Cucurbitaceae/microbiología , Penicillium , Proteínas de Plantas/genética , Quitinasas/metabolismo , Clonación Molecular , Expresión Génica , Proteínas de Plantas/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factores de Tiempo
4.
J Phys Chem B ; 110(18): 8924-7, 2006 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-16671696

RESUMEN

Disperse red 1 (DR1) molecules have been successfully incorporated into the one-dimensional channels of AlPO4-5 single crystals by means of vapor-phase diffusion. Polarizing microscope and SHG results indicate that the DR1 molecules are well aligned in a preferred direction along the crystal channels. The p-polarization (parallel to the c-axis of AlPO4-5 crystal) SH intensity (Ip-ex), and s-polarization (perpendicular to the c-axis of AlPO4-5 crystal) SH intensity (Is-ex) of DR1-loaded AlPO4-5 single crystals can be well fitted as a function of input polarization angle (alpha): Ip-ex = 0.69 cos4 alpha + 0.37 sin4 alpha - 0.17, Is-ex = 0.69 cos2 alpha sin2 alpha + 0.06, respectively. This polarization angle dependence can be well explained by three different SHG processes of Ip (0 degrees), Ip (90 degrees), and Is (45 degrees), originated from different combinations of two polarized photons.

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