Patient Portals: Objectives, Acceptance, and Effects on Health Outcome - A Scoping Review of Reviews.

Patient portals provide patients access to their electronic health record and other functions as secure messaging. For over a decade, more and more patient portals are developed for various settings. The aim of this scoping review of reviews is to systematically search the literature for existing reviews to provide an overview of patient portals' objectives, acceptance and effects on outcome. We followed the PRISMA Statement and its extension for scoping reviews, and searched for articles published in 2011-2021. The 19 included articles were considerably heterogeneous concentrating on health outcome or patient portal facilitators and barriers.

[Indoor air quality and parents of asthmatic children practices]. / Pratiques impactant la qualité de l'air intérieur du domicile de l'enfant asthmatique.

BACKGROUND: Indoor air pollution can worsen asthma in children. Better knowledge of factors determining parents' reception of recommendations to limit pollution of indoor air in the homes of asthmatic children would be helpful to improve implementation. METHOD: A descriptive study evaluating practices known to have an impact on the quality of air in homes was conducted among parents of asthmatic children aged 3 to 16 years. From May to September 2013, parents answered anonymous self-administered questionnaires in waiting rooms of generalist practitioners, in the Nantes University pneumology pediatric outpatient clinic, and as part of therapeutic education sessions conducted by the Asthma-44 Network. RESULTS: There were 190 exploitable questionnaires: 88.2% of parents reported never smoking in the home; 48.4% used home fragrance in the living room at least once a week; 77.8% opened their children's bedroom windows more than 10minutes at least once a day; 32.6% used several cleaning products or bleach once or twice a week. Good practices concerning smoking in housing were applied less in homes where the child was monitored only by a general practitioner (OR=0.08; CI[0.02-0.34]). Good practices on the use of perfume were statistically linked to having an intermediate level occupation (OR=2.31; CI[1.01-5.32]) and being followed by the university hospital, by the asthma network or by a general practitioner if the child had already consulted a pneumo-pediatrician or an allergist (OR=0.24; CI[0.07-0.81]). Good ventilation practices forchildren's bedrooms were statistically linked to residing in a rural rather than urban setting (OR=4.72; CI[1.0-22.16]). CONCLUSION: Practices observed in parents of asthmatic children differ little from those of the general population. Recommendations on how to limit sources of chemical pollutants, with the exception of smoking, are still poorly applied. Specialist consultations and specific training for general practitioners should improve the penetration of public health messages to this vulnerable population.

[Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy]. / Encéphalopathie néonatale grave liée à un défaut d'activité de la sulfite-oxydase par déficit en cofacteur molybdène.

Neonatal seizure incidence is approximately 3.5/1000 live births. Inborn metabolic diseases account for approximately 1-4% of neonatal seizure cases. Among them, the catabolism anomaly of sulfite to sulfate caused by sulfite oxidase or cofactor molybdenum deficiency (MoCD) is a rare metabolic disorder in which neurological damage is similar to that found in neonatal asphyxia. We report the case of a newborn child with a MoCD. Born of related parents, this child had intrauterine growth retardation predominating on size diagnosed in the third trimester of pregnancy. After an uneventful birth, he presented convulsions at the 12th hour of life, confirmed by an electroencephalogram. Anticonvulsants and adjuvant treatments were ineffective; the child then required intubation at day 5 of life. The initial biological assessment found an elevated blood lactate level and the chromatography of amino acids showed a significant decrease of cystine and the abnormal presence of sulfocysteine, suggestive of a lack of sulfite oxidase activity. The uric acid level measured secondarily was low, suggesting a MoCD. Brain MRI was performed at day 5 for diffuse ischemic injury of different ages. After limiting acute care, the child died at day 14 of life. The genetic study of the child found a homozygous mutation c.564+1G>A in the MOCS2 gene, confirming the diagnosis of MoCD, present in the heterozygous state in both parents. Investigations in a logical sequence quickly suggested the MoCD diagnosis in presence of a low plasma concentration of cysteine, the abnormal presence of sulfocysteine, and low uric acid levels. The diagnosis of sulfite oxidase deficiency was made. Until now, no treatment has proven effective but a new treatment appears to be effective in cases with a MOCS1 mutation.

[Transplacental or breast milk intoxication to clonidine: a case of neonatal hypotonia and drowsiness]. / Intoxication transplacentaire ou par lait maternel à la clonidine : un cas de somnolence et d'hypotonie néonatale.

We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete.

Interactions between synaptic vesicle fusion proteins explored by atomic force microscopy.

Measuring the biophysical properties of macromolecular complexes at work is a major challenge of modern biology. The protein complex composed of vesicle-associated membrane protein 2, synaptosomal-associated protein of 25 kDa, and syntaxin 1 [soluble N-ethyl-maleimide-sensitive factor attachment protein receptor (SNARE) complex] is essential for docking and fusion of neurotransmitter-filled synaptic vesicles with the presynaptic membrane. To better understand the fusion mechanisms, we reconstituted the synaptic SNARE complex in the imaging chamber of an atomic force microscope and measured the interaction forces between its components. Each protein was tested against the two others, taken either individually or as binary complexes. This approach allowed us to determine specific interaction forces and dissociation kinetics of the SNAREs and led us to propose a sequence of interactions. A theoretical model based on our measurements suggests that a minimum of four complexes is probably necessary for fusion to occur. We also showed that the regulatory protein neuronal Sec1 injected into the atomic force microscope chamber prevented the complex formation. Finally, we measured the effect of tetanus toxin protease on the SNARE complex and its activity by on-line registration during tetanus toxin injection. These experiments provide a basis for the functional study of protein microdomains and also suggest opportunities for sensitive screening of drugs that can modulate protein-protein interactions.

A novel early estrogen-regulated gene gec1 encodes a protein related to GABARAP.

We have isolated, in guinea-pig endometrial cells, an estrogen-induced 1.8 kb RNA called gec1. Screening of a guinea-pig genomic library led to identification of gec1 gene consisting of 4 exons and 3 introns. Exon 1 contains the 5'UTR and the ATG initiation codon. A guinea-pig gec1 cDNA was obtained by 5'-RACE. The 351 bp coding sequence shares 76.8% identity with that of the human GABARAP 924 bp cDNA while UTRs of the two cDNAs differ. A gec1 probe from the 3'UTR revealed a 1.9 kb mRNA in human tissues and a human GEC1 cDNA was isolated from placenta. Its coding sequence shares 93 and 79% identity with that of guinea-pig gec1 and human GABARAP, respectively. The human and guinea-pig GEC1 proteins have 100% identity. GEC1 and GABARAP proteins have 87% identity and N terminus featuring a tubulin binding motif. Thus, estrogen-regulated gec1 is a new gene which could encode a microtubule-associated protein.

Molecular tools for identification of Penicillium starter cultures used in the food industry.

The main goal of this work was to develop rapid and accurate molecular tools to discriminate species of white industrial Penicillia. We applied three different polymerase chain reaction (PCR) based techniques. Sequences of the ITS region of the rRNA gene unit and of the 5' end of the beta tubulin gene yielded 1.2% and 5.8% nucleotide variability respectively, between Penicillium camembertii and Penicillium nalgiovense. Polymorphic restriction sites were found in both sequences. These may be used in diagnostic PCR-RFLP analysis to rapidly distinguish between the two Penicillium species. Random amplified polymorphic DNA (RAPD) markers were also useful to differentiate these two species, but no polymorphism was found at the subspecific level, which evidenced a high level of homogeneity of the isolates studied. By means of these three techniques, the real identity of industrial strains of Penicillium chrysogenum and P. nalgiovense could be demonstrated. The comparison of these isolates with type strains of the two species suggested that the former corresponds to P. nalgiovense. The genetic relatedness between P. naglovense and Penicillium dipodomyis was also confirmed.