05).
The modified reduced FOV DWI showed better overall image quality, differentiability of anatomic regions, and lesion conspicuity with fewer artifacts compared with DWI with reduced FOV and ssEPI.
The modified reduced FOV DWI showed better overall image quality, differentiability of anatomic regions, and lesion conspicuity with fewer artifacts compared with DWI with reduced FOV and ssEPI.
Artificial intelligence is poised to revolutionize medical image. It takes advantage of the high-dimensional quantitative features present in medical images that may not be fully appreciated by humans. U0126 Artificial intelligence has the potential to facilitate automatic organ segmentation, disease detection and characterization, and prediction of disease recurrence. This article reviews the current status of artificial intelligence in liver imaging and reviews the opportunities and challenges in clinical implementation.
Artificial intelligence is poised to revolutionize medical image. It takes advantage of the high-dimensional quantitative features present in medical images that may not be fully appreciated by humans. Artificial intelligence has the potential to facilitate automatic organ segmentation, disease detection and characterization, and prediction of disease recurrence. This article reviews the current status of artificial intelligence in liver imaging and reviews the opportunities and challenges in clinical implementation.
The increasing prevalence of gestational diabetes mellitus (GDM), the high probability of unfavorable pregnancy outcomes for the mother and the fetus, as well as a number of long-term consequences in GDM are a serious medical and social problem and require the need for its prevention by correcting risk factors, timely diagnosis and effective treatment.
Analysis of risk factors for the development of gestational diabetes mellitus (GDM), the relationship between GDM, the course and outcomes of pregnancy.
Retrospective analysis of 79 case histories of patients with confirmed GDM in the period from 2015 to 2017.
In the structure of risk factors for mother and fetus, age over 30 years (73.1%), burdened heredity for type 2 diabetes mellitus (T2DM) (30.8%), mother's pre-pregnancy body mass index (BMI) (overweight / obesity (26.9%)) had the greatest impact. Among the complications of pregnancy, the most common was the caesarean section (47.4%). The incidence of other complications (macrosomia (9%), premature birth (7.7%), congenital malformations of the fetus (5.1%), preeclampsia (5.1%) was lower than the average frequency of these complications in GDM, described in the literature. Nevertheless, it is 1.5-2 times higher than the average population indicators. In the course of statistical analysis of the data it was revealed, that the higher the mother's pre-pregnancy BMI, the lower the Apgar score for the first minute in the newborn.
Women with GDM require intensive monitoring of the course of pregnancy and timely hospitalization for planned delivery, and the provision of competent obstetric benefits.
Women with GDM require intensive monitoring of the course of pregnancy and timely hospitalization for planned delivery, and the provision of competent obstetric benefits.Mutations in the gene DHH are an extremely rare cause of disorders of sex development 46,XY (DSD,46XY). The article describes the clinical cases of two unrelated patients with gonadal dysgenesis 46,XY with female phenotype. By using a next generation sequencing method, in both cases the same biallelic variant substitution c. 419T>G in the DHH gene was revealed. Taking into account the data on the role of DHH in the formation of the nervous system, the diagnosis of minifascicular polyneuropathy at the preclinical stage was confirmed in both cases. These cases demonstrate the value of using NGS, which allows simultaneous analysis of a wide range of candidate genes in DSD and the diagnosis of comorbidities before the development of the clinical picture. These are the first descriptions of patients with mutations in the DHH gene in the Russian population.CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a multidisciplinary therapeutic approach. Wild spectrum of clinical presentation can be seen even among the patients with identical mutation. Diagnosis might be suspected by a combination of major and minor clinical criteria of this disorder, but molecular genetic analysis is mandatory for final verification. Accurate diagnosis is essential to informing patients about all possible clinical features, reproductive status and choosing the correct treatment approach. The most common endocrine abnormality in patients with CHARGE syndrome is the disturbance in gonadotropins function ranged from delay puberty to persistent hypogonadotropic hypogonadism with different olfactory phenotypes, resulted by specific role of CHD7 in GnRH neuronal embryogenesis.We describe a familial case of CHARGE syndrome with significant intrafamilial clinical heterogeneity due to CHD7 gene mutation.Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH). Clinically, there are variants of CHH with hypo-/anosmia (Kalman syndrome) and normosmic hypogonadotropic hypogonadism. Given a growing list of gene mutations accounting for CHH, the application of next generation sequencing (NGS) comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. Biallelic mutations in GNRHR gene lead to the development of hypogonadotropic hypogonadism with normosmia. In this paper, we describe 16 patients with proven GnRH resistance and estimate the frequency of pathogenic variants in the GNRHR gene in the Russian population.Gonadotropin-dependent precocious puberty (central) is a condition resulting from the early (up to 8 years in girls and 9 years in boys) reactivation of the hypothalamic-pituitary-gonadal axis. An increase in the secretion of sex steroids by the gonads in this form is a consequence of the stimulation of the sex glands by gonadotropic hormones of the pituitary gland. In the absence of central nervous system abnormalities, CPP is classified as idiopathic and as familial in some cases, emphasizing the genetic origin of this disorder. Loss-of-function mutations in Makorin Ring Finger Protein 3 (MKRN3) are the most common identified genetic cause of central precocious puberty compared to sporadic cases. In the present study we performed the first descrition of 3 family cases of central precocious puberty duo to novel MKRN3 gene mutation detected by NGS in the Russian Federation.U0126
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