Impact of Biological Factors Related to Maternal Aging: Risk of Childbirth with Down Syndrome

Maternal aging and different biological factors play an important role in the birth of Down syndrome baby. Hormones play a crucial role for the maintenance of female sex cycle and oocyte maturation. Disparity in the level of these hormones during menstrual cycle has profound effect on female reproductive system. Hormonal imbalance also affects meiotic process and integrity of spindle structure and leads to nondisjunction of chromosome. Follicle-stimulating hormone (FSH), anti-Müllerian hormone (AMH) and luteinizing hormone (LH) play a crucial role in ovarian aging and nondisjunction of chromosomes. FSH stands as a hormonal indicator for ovarian aging, and its high level is responsible for aneuploid birth. Advanced chronological age of mother, ovarian aging, environmental factors and accelerated telomere shortening at older reproductive age are found to be risk factors for the birth of trisomy 21 Down syndrome

Study on the Effect of Socio-Demographic Factors on Different Congenital Disorders

Congenital disorders define the disease that occurs since the birth of a baby. Down syndrome, Turner syndrome, cleft lip, and congenital heart disease are the most common congenital disorders worldwide. A retrospective study was carried out, examining the effect of sociodemographic factors on congenital anomalies in the state of West Bengal, India, over a period of 6 years. A total of 595 cases with congenital disorders including Down syndrome, Turner syndrome, and other abnormalities (cleft lip/palate, syndactyly, ambiguous genitalia) were statistically analyzed along with the sociodemographic characteristics through Statistical Analysis System (SAS) 9.3.2. Down syndrome is seemed to be associated with age, ethnicity, parental addiction, especially smoking, while Turner syndrome is associated with ethnicity and gender. Other congenital disorders such as ambiguous genitalia are found to be associated with maternal addiction

Recent Advances in Research on Down Syndrome

Down syndrome (DS) or trisomy 21 is one of the most important genetic causes of mental retardation. Sincere and significant attempts have been made towards understanding the congenital diseases that affect DS patients. Better understanding of gene networks associated with such malformations will help to predict the complex genetic trait behind congenital disease in DS and will also provide the basis for tailored gene therapies that could begin to heal or prevent such malformation without the need to resort to invasive surgery. Further, susceptible mutation screening in women will also be helpful for both prenatal diagnosis of DS birth and assessing the risk of predisposition to Alzheimer’s disease and congenital heart disease. Stress condition and neurodegeneration are two important markers in Down syndrome patients and mtDNA variation can also be used as an important biomarker. It has been suggested that nutraceuticals which reduce reactive oxygen species (ROS) level may be used to treat trisomy 21 condition. As mitochondria play a crucial role in the regulation of free radicals, only a detail analysis will reveal the origin of phenotypic characteristics among trisomy 21 DS patients. On the other hand, several mechanisms are responsible for neurodegeneration as well as altered cognition. It includes impaired neurogenesis leading to hypocellularity in the cortex, hippocampus and cerebellum, altered dendritic morphology, altered synapses, increased inhibition and neurodegeneration. The new knowledge of the pathogenic mechanisms in DS individuals has been acquired from mouse model. These studies provide the basis for developing new drugs for clinical trials in DS individuals and to sustain the hope that some of these drugs will be useful in treating intellectual disability in DS individuals

Synthesis, Characterisation, Structure, and Magnetic Properties of [Ni{H 2 NCH(CH 3 )CH 2 NH 2 } 3 ][Fe(CN) 5 NO]·H 2 O

The complex [Ni(pn

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment. Genotypically and phenotypically NSHL is extremely heterogenous and follow either autosomal dominant or autosomal recessive or X-linked mode of inheritance. Presently, 127 genes have been identified to be associated with both syndromic and (NSHL). Here, we studied a Chinese family with moderate and profound hearing impairment. The proband is a 30-year old Chinese man. The proband was born with normal hearing and at the age of 5-years, the proband was first noticed with hearing impairment. Gradually and progressively the proband was presented with loss of hearing in his both right and left ears at the age of 30 years. The clinical symptoms, age of onset or progression to loss of hearing was similar in both the proband and his younger brother. The proband’s parents are phenotypically normal and non-consanguineous. Clinical diagnosis of the proband and his younger brother has been done by classical pure tone audiogram (PTA). Computed Tomography (CT) found no abnormality in bilateral external ear, middle ear and inner ear. Targeted next generation sequencing was performed with a panel of 127 genes reported to be associated with hereditary hearing impairment. A novel homozygous single nucleotide deletion (c.427delT) in exon 4 of ILDR1 gene has been identified in proband and in his younger brother. Sanger sequencing confirmed that proband’s father and mother are carrying this mutation in a heterozygous manner. This mutation has not been identified in 100 normal healthy control individuals. This mutation (c.427delT) causes frameshift (p.Tyr143Ilefs∗19) which leads to the formation of a truncated ILDR1 protein of 162 amino acids instead of the wild type ILDR1 protein of 546 amino acids. ILDR1 associated hereditary hearing impairment is very rare and this is the first report of identifying a loss-of-function mutation in ILDR1 gene associated with hereditary hearing impairment in Chinese population. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with hereditary hearing impairment by targeted next generation sequencing

Phytol: A review of biomedical activities

© 2018 Elsevier Ltd. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 12 month embargo from date of publication (Auguist 2018) in accordance with the publisher’s archiving policyPhytol (PYT) is a diterpene member of the long-chain unsaturated acyclic alcohols. PYT and some of its derivatives, including phytanic acid (PA), exert a wide range of biological effects. PYT is a valuable essential oil (EO) used as a fragrance and a potential candidate for a broad range of applications in the pharmaceutical and biotechnological industry. There is ample evidence that PA may play a crucial role in the development of pathophysiological states. Focusing on PYT and some of its most relevant derivatives, here we present a systematic review of reported biological activities, along with their underlying mechanism of action. Recent investigations with PYT demonstrated anxiolytic, metabolism-modulating, cytotoxic, antioxidant, autophagy- and apoptosis-inducing, antinociceptive, anti-inflammatory, immune-modulating, and antimicrobial effects. PPARs- and NF-κB-mediated activities are also discussed as mechanisms responsible for some of the bioactivities of PYT. The overall goal of this review is to discuss recent findings pertaining to PYT biological activities and its possible applications