Search results for "abnormal"

Microplastics in the global aquatic environment: Analysis, effects, remediation and policy solutions

2019

This opinion paper reports on Microplastics (MPs) pollution in the aquatic environment. MPs are a global problem being detected everywhere: marine environment, wastewaters, surface waters, soils, sediments, food and air. MPs can also absorb organic contaminants, and can be ingested by organisms and introduced into the food web. MPs can be a vector as well of pathogens whereas airborne fibrous MPs may enter our respiratory system with risk to the environment and humans. Main issues and gaps related to MPs on-going and future research are highlighted: chemical analysis, fate in wastewater and drinking water treatment plants, environmental and human health effects as well as remediation strate…

Weyers acrodental dysostosis in a family.

1984

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

Newborns with an impairment: discourses of hospital staff.

2007

The birth of a baby with an impairment goes against dominant cultural ideals about a happy event. Therefore, the interaction between professionals and parents is particularly important, from the hospital maternity ward to the home. In this article, the author examines both the representations of neonatal impairments constructed by professionals and the consequent subject positions for these babies with impairments. The study is based on interview data collected among 19 staff members of one Finnish county hospital. The author analyzed the data by means of qualitative discourse analysis and concludes that it would be important for health care professionals to provide many-sided elements for…

Asthma in pregnancy: One more piece of the puzzle

2016

Asthma is the most commonly occurring respiratory complication during pregnancy, and is associated with a wide range of adverse maternal and perinatal outcomes. However, there is strong evidence that an adequate control of asthma can improve the health of both mothers and their babies. Despite the well-known risks of poorly-controlled asthma during pregnancy, a large proportion of women have sub-optimal asthma control, due to concerns surrounding risks related to pharmacological agents and uncertainties regarding the effectiveness and safety of different management strategies. A recent retrospective study showed that step-up therapy with low-dose inhaled corticosteroids / long-acting β2-ago…

Fever in pregnancy and congenital anomalies.

1979

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

2018

Abstract Background Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation. Methods A retrospective study was carried out on newborns with prenatally diagnosed intrathoracic mass. Gathering for respiratory distress syndrome (RDS), 35 neonates were compared for clinical course, cardiovascular enzymes, ECG, and ultrasound. Results The analysis revealed a high left heart defect rate in patients with severe RDS, without being influenced by the laterality. Ultrasound or laboratory assessment did not detect altered cardiac dimension or cardiomyopathy. Solely ECG signs…

Glutamine Codon Usage and polyQ Evolution in Primates Depend on the Q Stretch Length

2018

Abstract Amino acid usage in a proteome depends mostly on its taxonomy, as it does the codon usage in transcriptomes. Here, we explore the level of variation in the codon usage of a specific amino acid, glutamine, in relation to the number of consecutive glutamine residues. We show that CAG triplets are consistently more abundant in short glutamine homorepeats (polyQ, four to eight residues) than in shorter glutamine stretches (one to three residues), leading to the evolutionary growth of the repeat region in a CAG-dependent manner. The length of orthologous polyQ regions is mostly stable in primates, particularly the short ones. Interestingly, given a short polyQ the CAG usage is higher in…

Pharmacological Induction of Redundant Genes for a Therapy of X-ALD

2003

X-linked adrenoleukodystrophy (X-ALD) is a recessive neurologic disease with an incidence among males of 1/17 000. Since the identification of the X-ALD gene (ABCD1) ten years ago (Mosser et al 1993), no satisfactory therapy has been available. A close homologue (ABCD2) was then cloned and presented as a putative modifier gene that could account for some of the extreme phenotypic variability of X-ALD (Lombard-Platet et al 1996). The inducibility of Abcd2 by the hypolipidemic drug fenofibrate in the liver of rodents (Albet et al 1997), correlated to a partial normalisation of the biochemical phenotype of X-ALD (Netik et al 1999), opened up the way of a pharmacological therapy of X-ALD. The b…

The impact of gender and age at onset on the familial aggregation of schizophrenia.

1993

Some recent family studies have shown that the familial risk for schizophrenia is higher in female than in male schizophrenics. It is debated whether the risks for the other disorders, such as schizotypal personality disorder or affective disorders in families of schizophrenics are similarly influenced by the proband's gender. Also, the reason for the effect of proband's gender on the recurrence risk for schizophrenia has not been clarified. This family study (159 probands, 589 first degree relatives) confirms that schizophrenia, but also schizophrenia spectrum disorders were more frequent in families of female compared with male schizophrenics. Neither age at onset in probands nor the inte…

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

2012

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…