Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we ...report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported. Using whole exome sequencing, we found a de novo nonsense mutation in WHSC1 (c.3412C>T, p.Arg1138Ter, NM_001042424.2) in patient with syndromic intellectual disability. This finding is challenging regarding a possible causative role of WHSC1 in intellectual disability syndromes, specifically Wolf-Hirschhorn syndrome. From the clinical standpoint, our finding suggests that next-generation sequencing along with chromosome microarray analysis (CMA) might be useful in genetic testing for patients with intellectual disability and dysmorphic features.
The autonomous regulation of the composition of breast milk according to the baby’s needs is perhaps the most unique and mysterious mechanism. Under physiological conditions, the first drops of milk ...are rich in antioxidants that the newborn needs to combat oxygen deprivation. Milk to nourish boys is more nutritious and night milk is rich in melatonin, which can soothe and put the baby to sleep. Unfortunately, the conditions surrounding a pregnant woman and her newborn baby are not always natural. Many external factors are considered in the context of the risk of adverse effects on the health of the mother and the baby. This article discusses the most common factors that distort the microbiota of breast milk: obesity, delivery mode and antibiotic prophylaxis. Caesarean section, which significantly depletes the bacterial diversity of breast milk, is reported to be the most important factor. The associated disruption of microbial colonisation in infancy leads to a high risk of inflammatory bowel disease (including Crohn’s disease and ulcerative colitis), diabetes mellitus, rheumatoid arthritis and celiac disease in children. However, there is another opinion that attributes all the consequences of caesarean section to the necessary preoperative antibiotic prophylaxis in most countries. Maternal obesity also leads to low microbial diversity and impoverishment of breast milk with members of the Bifidobacterium genus, which in turn leads to reduced immunomodulatory potential of breast milk in these women. Often these three factors constitute a vicious circle of problems that interfere with the natural and proper process of forming a healthy microbiome in the newborn and require individualised and professional paediatric care.
The influence of the temperature factor on the functional state of the dermal specific gland of the red deer, which manifests its maximum values in the Altai, both the lowest in the winter period and ...the highest in the summer period of the year. Initially, a detailed description of the structure of the tail gland of the deer is given due to the fact that the classification of skin glands is still controversial, and data on the structure of such structures in real deer are sporadic. Standard histological, morphometric and statistical research methods were used. In determining the functional state of the tail gland, morphometry of its indicators such as the diameter of the alveoli, the height of the glandular epithelium, the diameter of the excretory ducts, the diameter of the nuclei of the glandular cells and their nuclear-cytoplasmotic ratio was performed. Sexual dimorphism of both macroscopic (length and mass of the gland) and micrometric indices is established, and in both adult and young females they are higher than in analogs of males. In the study of seasonal dynamics of morphological parameters of the gland, their significant change was found only in adult females, which allows us to speak about enhancing its functional state in the summer period. The dynamics of the functional state of the gland in females, depending on their physiological state in the winter season, was also revealed. For comparison, selected groups: non-pregnant animals, pregnant, lactating and at the same time pregnant and lactating. It was established that the functional state of the gland at the beginning of pregnancy (its first trimester) does not significantly change compared with non-pregnant animals. Animals of non-pregnant, but lactating iron are functionally more active than non-lactating. The simultaneous effect of lactation and pregnancy does not affect the functional state of the tail red deer
The history of the use of fermented, easily digestible products in the treatment and for prolonging life began long before their basis was called probiotics. Recipes for fermenting milk from various ...animals, endowing it with healing properties, have a long history. The first descriptions of fermentation of milk for making sour milk drinks and cheese are documented in the sacred writings of Indians and date back to about 2000 B.C. The first attempts to explain the secrets of sour milk began only in the second half of the XIX century and are associated with the works of outstanding scientists of the time - Louis Pasteur, Henri Tissier, I.I. Mechnikov, Stamen Grigorov and others. Today, in the usual sense, probiotics are living microorganisms that benefit the host when administered in adequate quantities. It is quite obvious that belonging of a probiotic strain to different species and types of bacteria determines a different set of immunological and non-immunological effects, as well as a number of specific, unique qualities.
Lactobacillus reuteri
is one of the most well-studied species with respect to both efficacy and safety. The beneficial health effects of
L. reuteri
strains (DSM 17938, ATCC PTA 6475, ATCC PTA 52899) have been confirmed in more than 200 clinical trials with the participation of about 18,000 people of all ages. The article most fully describes the effects of
L. reuteri
DSM 17938, the use of which is not limited to the well-known means of prevention and treatment of infantile colic.
Breastfeeding is the gold standard of optimal nutrition and largely determines the health of the child not only at an early age, but also in subsequent periods of his life. Due to the optimal ...composition of breast milk, the child forms such features of lipid, carbohydrate, mineral and energy metabolism, which provide not only the best conditions for physical and intellectual development of the child, but also its social adaptation. Prolonged breastfeeding reduces the subsequent risk of developing socially significant diseases such as atherosclerosis, hypertension, obesity and type 2 diabetes mellitus. Since the 1970s, the World Health Organization (WHO) and the United Nations Children’s Emergency Fund (UNICEF) have been active in reviving the culture of breastfeeding. In 1989, they developed a joint declaration Protection, Promotion and Support of Breastfeeding Practices: the Special Role of Obstetric Services, which is based on Ten Principles of Successful Breastfeeding (training of medical personnel, antenatal preparation of pregnant women for breastfeeding, early breastfeeding in the delivery room, keeping mother and baby together and feeding a healthy baby on demand, helping mothers in difficult situations, exclusive breastfeeding, informing mothers about the dangers of pacifiers in initiating breastfeeding, follow-up assistance to mothers after discharge from the maternity hospital). The duration of exclusive breastfeeding (feeding only breast milk) is important for the health of the infant. According to the 2003 WHO recommendations, which are reflected in the Global Strategy for Infant and Young Child Feeding, exclusive breastfeeding should last 6 months. The national program for optimizing the feeding of children of the first year of life in the Russian Federation (2009, 2019) defines recommended periods of exclusive breastfeeding in the range of 4-6 months, and they depend on the health status of the infant. Modern industrially produced complementary foods are created taking into account the principles of healthy eating and contribute to the formation of proper nutritional behavior in children from an early age, which undoubtedly has a favorable effect on the child’s health in the future.
Mastitis is one of the most common pyoinflammatory processes that occur in the postpartum. The mastitis incidence varies from 0.5% to 33%. Due to lack of standard algorithms, approaches to diagnosis ...and treatment of lactational mastitis vary between pediatricians and obstetrician-gynecologists. Plugged ducts is the basic factor that predisposes a woman to plugged milk ducts, which can lead to mastitis. Unfortunately, frequently prescribed antibacterial treatment has an adverse effect on human milk microbiota and creates subtherapeutic drug concentration in milk, which leads to antibiotic resistance in infants. Effective expression of breast milk is a key method to prevent and fight mastitis and plugged ducts. Recommendations for preferred method of breast milk expression require a personalized approach, the first of which depends on the assessment of breast nipples condition. According to some reports, 80–90% of breast-feeding women develop soreness and cracked nipples, which cause delayed or missed breastfeeding. Teaching correct breast-feeding techniques can prevent the chain of these adverse events:
cracked nipples – plugged duct – lactation mastitis.
Ideally, a healthy mature infant with active sucking reflex, who is breastfed effectively with a good technique, may perfectly ensure a problem-free lactation period.
Modern molecular genetic methods of research, which emerged in the 21st century, completely unfixed all established notions not only about the microcosm, but also about its influence on the life and ...health of the macroorganism. The identification of intestinal bacteria and particularities of their various strains is increasingly expanding our understanding of the mechanisms of their action on the somatic and mental health of a human being. The various lactobacilli strains have been the most studied probiotic at the present time. The genus Lactobacillus is known to include about 90 species with a wide range of biochemical and physiological properties. Lactobacillus reuteri, which has strains with different mechanisms of action, is one of the unique microorganisms of the family Lactobacillaceae. The range of possibilities for using various Lactobacillus reuteri strains is currently very wide. This article deals with clinical effects associated with the strain-specificity of Lactobacillus reuteri.
Unfortunately, not every mammary gland functions in full when fulfils its main function, which is milk production for infant feeding. Most often, the technical errors during breastfeeding the baby ...cause nipple cracks, maceration and women stop breastfeeding. Engorgement is one of the most common problems faced during natural breastfeeding. The article highlights the issues of the physiology of lactation, discusses the problems arising during lactation, the risk factors for the development of hypogalactia, and describes the rules for using breast pumps to maintain lactation.
Presently, there is solid evidence that breast-feeding is ideal for the nutrition, harmonious physical and psychosocial development of the infants. This postulate is confirmed not only by modern ...scientific data, but also by the entire history of humanity from ancient times. However, history also shows that at all times there were various factors besides medical ones that prevent the appropriate and widespread breastfeeding of infants. These factors were both religious and social, and even political; they changed from one era to another and from one nation to another, and unfortunately, take place in modern society. They often had a character of prejudice and reflected on the health state of both infants and their mothers. This article presents a historical overview of the factors preventing breastfeeding, which can help the paediatrician understand the current causes of the insufficient prevalence of natural feeding.
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