Genetic and Physiological Factors Affecting Human Milk Production and Composition

Yarden Golan; Yehuda G. Assaraf

doi:10.3390/nu12051500

Genetic and Physiological Factors Affecting Human Milk Production and Composition

Nutrients ◽

10.3390/nu12051500 ◽

2020 ◽

Vol 12 (5) ◽

pp. 1500

Author(s):

Yarden Golan ◽

Yehuda G. Assaraf

Keyword(s):

Human Milk ◽

Maternal Nutrition ◽

Genetic Diagnosis ◽

Genetic Variations ◽

Nutrition Status ◽

Treatment Modalities ◽

Future Perspective ◽

Physiological Factors ◽

Factors Affecting ◽

Intrinsic Factors

Human milk is considered the optimal nutrition for infants as it provides additional attributes other than nutritional support for the infant and contributes to the mother’s health as well. Although breastfeeding is the most natural modality to feed infants, nowadays, many mothers complain about breastfeeding difficulties. In addition to environmental factors that may influence lactation outcomes including maternal nutrition status, partner’s support, stress, and latching ability of the infant, intrinsic factors such as maternal genetics may also affect the quantitative production and qualitative content of human milk. These genetic factors, which may largely affect the infant’s growth and development, as well as the mother’s breastfeeding experience, are the subject of the present review. We specifically describe genetic variations that were shown to affect quantitative human milk supply and/or its qualitative content. We further discuss possible implications and methods for diagnosis as well as treatment modalities. Although cases of nutrient-deficient human milk are considered rare, in some ethnic groups, genetic variations that affect human milk content are more abundant, and they should receive greater attention for diagnosis and treatment when necessary. From a future perspective, early genetic diagnosis should be directed to target and treat breastfeeding difficulties in real time.

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Association of multiple nucleotide variations in the pituitary glutaminyl cyclase gene QPC with low radial BMD in adult women.

10.31234/osf.io/93fcq ◽

2020 ◽

Author(s):

Lungwani Muungo

Keyword(s):

Linkage Disequilibrium ◽

Multiple Regression ◽

Genetic Variations ◽

Strong Linkage Disequilibrium ◽

Adult Women ◽

Nucleotide Polymorphisms ◽

Haplotype Estimation ◽

Factors Affecting ◽

Glutaminyl Cyclase ◽

Strong Linkage

Correlation between 13 genetic variations of the glutaminyl-peptide cyclotransferase gene andadjusted aBMD was tested among 384 adult women. Among 13 variations with strong linkage disequilibrium,R54W showed a prominent association (p ? 0.0003), which was more striking when examined among 309 eldersubjects (>50 years; p ? 0.0001). Contribution for postmenopausal bone loss was suggested.Introduction: Alterations in homeostatic regulation of estrogen through the hypothalamus-pituitary-gonadal axis(HPG axis) importantly affect the pathogenesis of osteoporosis. Osteoporosis-susceptibility genes have beenproposed in this hormonal axis, such as estrogen receptor genes and the gonadotropin-releasing hormone gene(GnRH). Here we report another example of genes: glutaminyl-peptide cyclotransferase gene (QPCT), an essentialmodifier of pituitary peptide hormones, including GnRH.Materials and Methods: Analyses of association of 13 single nucleotide polymorphisms (SNPs) at the QPCT locuswith adjusted areal BMD (adj-aBMD) were carried out among 384 adult women. Linkage disequilibrium (LD) wasanalyzed by haplotype estimation and calculation of D? and r2. Multiple regression analysis was applied forevaluating the combined effects of the variations.Results and Conclusions: LD analysis indicated strong linkage disequilibrium within the entire 30-kb region of theQPCT gene. Significant correlations were observed between the genotypes of the six SNPs and the radial adj-aBMD,among which R54W (nt ? 160C?T) presented the most prominent association (p ? 0.0003). Striking associationwas observed for these SNPs among the 309 subjects ?50 years of age (R54W, p ? 0.0001; ?1095T?C, p ?0.0002; ?1844C?T, p ? 0.0002). Multiple regression analyses indicated that multiple SNPs in the gene might actin combination to determine the radial adj-aBMD. These results indicate that genetic variations in QPCT are theimportant factors affecting the BMD of adult women that contribute to susceptibility for osteoporosis. The datashould provide new insight into the etiology of the disease and may suggest a new target to be considered duringtreatment.J Bone Miner

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Differential Effects of Maternal Diets on Birth Outcomes and Metabolic Parameters in Rats After Ethanol Consumption during Pregnancy

British Journal Of Nutrition ◽

10.1017/s0007114520005152 ◽

2020 ◽

pp. 1-25

Author(s):

Yidi Wang ◽

Bradley A. Feltham ◽

Michael N. A. Eskin ◽

Miyoung Suh

Keyword(s):

Total Cholesterol ◽

Birth Outcomes ◽

Maternal Nutrition ◽

Maternal Diet ◽

Hdl Cholesterol ◽

Nutrition Intervention ◽

Metabolic Parameters ◽

Nutrition Status ◽

Sprague Dawley ◽

Metabolic Outcomes

Abstract Maternal nutrition status plays an important role in the development of fetal alcohol spectrum disorders (FASD), but its direct evidence is lacking. This study compared a standard chow with a semi-purified energy dense (E-dense) diet on birth and metabolic outcomes in rats after ethanol (EtOH) consumption during pregnancy. Pregnant Sprague-Dawley rats were randomized into four groups: chow (n=6), chow+EtOH (20% v/v) (n=7), E-dense (n=6), and E-dense+EtOH (n=8). Birth outcomes including litter size, body and organ weights were collected. Metabolic parameters were measured in dams and pups at postnatal day (PD) 7. Maternal EtOH consumption decreased body weights (p <0.0001) and litter sizes (p <0.05) in chow-fed dams. At PD7, pups born to dams fed E-dense diet had higher body (p <0.002) and liver weights (p <0.0001). These pups also had higher plasma total cholesterol (p <0.0001), triacyclglycerol (p <0.003) and alanine aminotransferase (p <0.03) compared to those from chow-fed dams. Dams fed E-dense diet had higher plasma total- (p <0.0001) and HDL-cholesterol (p <0.0001) and lower glucose (p <0.0001). EtOH increased total cholesterol (p <0.03) and glucose (p <0.05) only in dams fed the E-dense diet. Maternal exposure to E-dense diet attenuated prenatal EtOH-induced weight loss and produced different metabolic outcomes in both dams and pups. While the long-lasting effects of these outcomes are unknown, this study highlights the importance of maternal diet quality for maternal health and infant growth, and suggests that maternal nutrition intervention may be a potential target for alleviating FASD.

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Clinical analysis of tracheobronchial foreign body aspiration in children: a focus on external and intrinsic factors

BMC Surgery ◽

10.1186/s12893-021-01089-3 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Weigang Gan ◽

Ning Xiao ◽

Yiyuan Feng ◽

Danmei Zhou ◽

Juanjuan Hu ◽

...

Keyword(s):

Foreign Body ◽

Pediatric Patients ◽

Treatment Delay ◽

Rigid Bronchoscopy ◽

Foreign Body Aspiration ◽

External Factors ◽

Factors Affecting ◽

Intrinsic Factors ◽

Common Location ◽

Tracheobronchial Foreign Body

Abstract Background Tracheobronchial foreign body aspiration (TFBA) is a critical disease in children and is extremely dangerous, even life-threatening. The factors affecting the occurrence and prognosis of TFBA are complex. The purpose of this study is to examine the external and intrinsic factors affecting clinical features of TFBA in West China and propose potential effective intervention measures. Methods We retrospectively analyzed the clinical data of pediatric patients diagnosed with TFBA with foreign bodies (FBs) removed by rigid bronchoscopy under general anesthesia at the otolaryngology department from December 2017 to November 2018. The data included age, sex, clinical symptoms, type and location of FB, guardians, prehospital duration and residence of these pediatric patients. Results The ratio of males (72) to females (53) was 1.4:1. Children aged from 1 to 3 years accounted for 76% (95/125) of patients. Cough, continuous fever and dyspnea were the primary symptoms. The right primary bronchus was the most common location of FB detection by rigid bronchoscopy (67 cases, 53.6%). Organic FBs were most common in our study. Guardians of patients significantly differed in the rural (parents 16, grandparents 31) and urban (parents 52, grandparents 26) groups (χ2 = 12.583, p = 0.000). More children in the rural group than in the urban group had a treatment delay longer than 72 h. More children in the group with no history of FB aspiration (12, 25%) than in the group with prior FB aspiration had a treatment delay longer than 72 h. Conclusion Pediatric TFBA is a common emergency in otolaryngology. Age, sex, tracheobronchial anatomy and other physiological elements were defined as intrinsic factors, while guardians, residence, FB species and prehospital time were defined as external factors of TFBA. External and intrinsic factors both influence the occurrence and progression of TFBA. It is extremely important to take effective measures to control external factors, which can decrease morbidity and mortality.

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Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder

Translational Psychiatry ◽

10.1038/s41398-021-01473-w ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Santosh K. Yadav ◽

Ajaz A. Bhat ◽

Sheema Hashem ◽

Sabah Nisar ◽

Madeeha Kamal ◽

...

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Brain Imaging ◽

Attention Deficit ◽

Genetic Variations ◽

Imaging Genetics ◽

Treatment Modalities ◽

Genetic Studies ◽

Hyperactivity Disorder ◽

Clinical Biomarkers ◽

The Impact

AbstractAttention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55–66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Neuroimaging and neurodevelopmental assessments may help to explore the possible role of genetic variations on ADHD neuropsychobiology. Multiple genetic studies have observed a strong genetic association with various aspects of neuropsychobiological functions, including neural abnormalities and delayed neurodevelopment in ADHD. The advancement in neuroimaging and molecular genomics offers the opportunity to analyze the impact of genetic variations alongside its dysregulated pathways on structural and functional derived brain imaging phenotypes in various neurological and psychiatric disorders, including ADHD. Recently, neuroimaging genomic studies observed a significant association of brain imaging phenotypes with genetic susceptibility in ADHD. Integrating the neuroimaging-derived phenotypes with genomics deciphers various neurobiological pathways that can be leveraged for the development of novel clinical biomarkers, new treatment modalities as well as therapeutic interventions for ADHD patients. In this review, we discuss the neurobiology of ADHD with particular emphasis on structural and functional changes in the ADHD brain and their interactions with complex genomic variations utilizing imaging genetics methodologies. We also highlight the genetic variants supposedly allied with the development of ADHD and how these, in turn, may affect the brain circuit function and related behaviors. In addition to reviewing imaging genetic studies, we also examine the need for complementary approaches at various levels of biological complexity and emphasize the importance of combining and integrating results to explore biological pathways involved in ADHD disorder. These approaches include animal models, computational biology, bioinformatics analyses, and multimodal imaging genetics studies.

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Is it possible to estimate the need for surgical management in patients with a tubo-ovarian abscess at admission? A retrospective long-term analysis

Gynecological Surgery ◽

10.1186/s10397-021-01095-6 ◽

2021 ◽

Vol 18 (1) ◽

Author(s):

Murat Gözüküçük ◽

Esra Gülen Yıldız

Keyword(s):

Surgical Treatment ◽

Antibiotic Therapy ◽

Treatment Failure ◽

Medical Treatment ◽

Length Of Hospital Stay ◽

Treatment Modalities ◽

Laboratory Findings ◽

Factors Affecting ◽

Laboratory Infection ◽

Major Factors

Abstract Background This study aimed to determine the possible prognostic factors correlated with the treatment modalities of tubo-ovarian abscesses (TOAs) and thus to assess whether the need for surgery was predictable at the time of initial admission. Materials and methods Between January 2012 and December 2019, patients who were hospitalized with a TOA in our clinic were retrospectively recruited. The age of the patients, clinical and sonographic presentation, pelvic inflammatory risk factors, antibiotic therapy, applied surgical treatment, laboratory infection parameters, and length of hospital stay were recorded. Results The records of 115 patients hospitalized with a prediagnosis of TOA were reviewed for the current study. After hospitalization, TOA was ruled out in 19 patients, and data regarding 96 patients was included for analysis. Twenty-eight (29.2%) patients underwent surgical treatment due to failed antibiotic therapy. Sixty-eight (70.8%) were successfully treated with parenteral antibiotics. Medical treatment failure and need for surgery were more common in patients with a large abscess (volume, > 40 cm3, or diameter, > 5 cm). The group treated by surgical intervention was statistically older than the patients receiving medical treatment (p < 0.05). Conclusions Although the treatment in TOA may vary according to clinical, sonographic, and laboratory findings; age of patients, the abscess size, and volume were seen as the major factors affecting medical treatment failure. Moreover, TOA treatment should be planned on a more individual basis.

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Ecological and Physiological Factors Affecting Brood Patch Area and Prolactin Levels in Arctic-Nesting Geese

The Auk ◽

10.1093/auk/123.2.405 ◽

2006 ◽

Vol 123 (2) ◽

pp. 405-418 ◽

Cited By ~ 3

Author(s):

Jón Einar Jónsson ◽

Alan D. Afton ◽

Ray T. Alisauskas ◽

Cynthia K. Bluhm ◽

Mohamed E. El Halawani

Keyword(s):

Body Condition ◽

The Body ◽

Nest Size ◽

Patch Area ◽

Physiological Factors ◽

Factors Affecting ◽

Chen Caerulescens ◽

Brood Patch ◽

Snow Geese ◽

Ross's Geese

AbstractWe investigated effects of ecological and physiological factors on brood patch area and prolactin levels in free-ranging Lesser Snow Geese (Chen caerulescens caerulescens; hereafter “Snow Geese”) and Ross's Geese (C. rossii). On the basis of the body-size hypothesis, we predicted that the relationships between prolactin levels, brood patch area, and body condition would be stronger in Ross's Geese than in the larger Snow Geese. We found that brood patch area was positively related to clutch volume and inversely related to prolactin levels in Ross's Geese, but not in Snow Geese. Nest size, nest habitat, and first egg date did not affect brood patch area in either species. Prolactin levels increased as incubation progressed in female Snow Geese, but this relationship was not significant in Ross's Geese. Prolactin levels and body condition (as indexed by size-adjusted body mass) were inversely related in Ross's Geese, but not in Snow Geese. Our findings are consistent with the prediction that relationships between prolactin levels, brood patch area, and body condition are relatively stronger in Ross's Geese, because they mobilize endogenous reserves at faster rates than Snow Geese.Factores Ecológicos y Fisiológicos que Afectan el Área del Parche de Incubación y los Niveles de Prolactina en Gansos Nidificantes del Ártico

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Single-tooth replacement: factors affecting different prosthetic treatment modalities

BMC Oral Health ◽

10.1186/1472-6831-11-34 ◽

2011 ◽

Vol 11 (1) ◽

Cited By ~ 24

Author(s):

Firas A Al-Quran ◽

Raed F Al-Ghalayini ◽

Bashar N Al-Zu'bi

Keyword(s):

Treatment Modalities ◽

Tooth Replacement ◽

Factors Affecting ◽

Single Tooth

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Physiological factors affecting performance in elite distance runners

Acta Kinesiologiae Universitatis Tartuensis ◽

10.12697/akut.2016.22.01 ◽

2016 ◽

Vol 22 ◽

pp. 7 ◽

Cited By ~ 4

Author(s):

Leif Inge Tjelta ◽

Shaher A. I. Shalfawi

Keyword(s):

Oxygen Uptake ◽

Energy System ◽

Running Economy ◽

Distance Runners ◽

Energy Contribution ◽

Physiological Factors ◽

Factors Affecting ◽

Air Resistance ◽

Factors Affecting Performance ◽

Response To Exercise

Running distances from 3000 m to the marathon (42 195 m) are events dominated by energy contribution of the aerobic energy system. The physiological factors that underlie success in these running events are maximal oxygen uptake (VO2max), running economy (RE), the utilization of the maximum oxygen uptake (%VO2max) and velocity at the anaerobic threshold (vAT). VO2max for distance runners competing on an international level has been between 70 and 87 ml/kg/min in men, and between 60 and 78.7 ml/kg/min in women, respectively. Due to lack of air resistance, laboratory testing of RE and vAT are recommended to be conducted on treadmill with 1% slope. %VO2max are in most studies expressed as the average fractional utilization of VO2max at vAT. Much of the current understanding regarding the response to exercise is based on studies of untrained and moderately trained individuals. To use this knowledge to give training recommendations to elite runners is hardly valid. Researchers should therefore exercise caution when giving training recommendations to coaches and elite distance runners based on limited available research.

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