Quality of life among caregivers of thalassaemic children, attending at Thalassaemia control unit of a rural tertiary care hospital, in a sub-Himalayan district of West Bengal

Thalassaemia is a disease of abnormal development of red blood cells which manifests as anaemia. This chronic disease may cause mental, social, financial burdens on the families, care givers and also on health care system.To assess the quality of life (QOL) of the caregivers of thalassaemic children and to identify the predictors of quality of their physical and mental health.Institution based descriptive cross-sectional study conducted in the Thalassaemia Control Unit (TCU) of North Bengal Medical College (NBMC) from December 2018 to April 2019. Total 136 caregivers of children (≤12 years) with thalassaemia were included by complete enumeration method. Physical and mental health of the caregivers were reported in Short Form-36 (SF-36) Health Survey. Collected data were entered into MS-Excel, analysed with the help of SPSS (Version 22).Mean age of caregivers was 34.3 (SD ± 1.4 years). Most of caregivers were female (89%) and had educational qualification up to Primary school (45.6%). Majority (70.6%) of the caregivers were the mothers of the children. Most of the study participants (60.3%) had favourable Physical health Component Summary (PCS) but 64.7% of the caregivers had unfavourable Mental health component Summary (MCS). Educational status was found to be the predictor for PCS but age and relationship with the child were the predictors for MCS.Counselling, psychotherapy, social support for family members or caregivers of the thalassaemic children and community involvement with their full participation should be emphasized to reduce stigma related to thalassaemia.

Changes of Cytokines in Children With Tic Disorder

Tic disorder (TD) is a common childhood-onset disease associated with abnormal development of brain networks involved in the motor and sensory processing. The underlying pathophysiological mechanisms in TD are still unclear. An involvement of immune mechanisms in its pathophysiology has been proposed. This study investigates the association between the changes of cytokines and the etiology and development of TD. Different expressions of cytokines in a larger number of samples in our study may provide new insights to the field. The levels of cytokines (IL-2, IL-4, IL-6, IL-10, TNF-α, and IFN-γ) were evaluated in 1,724 patients who were clinically diagnosed with TD from 1 to 17.5 years old and 550 were from 6 months to 14.5 years old in the control group. We assessed the levels of cytokines according to the patient's medication status and the severity of the disease. Of the cytokines we investigated, the serum IL-6 concentration of children with TD was significantly higher than that of the control group, while the levels of other cytokines were lower in TD patients. In the patient group whose YTGSS score ranged from 1 to 9, the IL-4, IL-10, and IFN-γ levels increased in medication group compared to unmedication group. Our data suggested that the cytokines (IL-2, IL-4, IL-6, IL-10, TNF-α, and IFN-γ) may play an important role in the etiology and the severity in TD. Whether drug intervention in the early stage of tic disorder has a better effect on children needs further research.

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder

Congenital fibrinogen disorders are caused by mutations in genes coding for fibrinogen and may lead to various clinical phenotypes. Here, we present a functional and structural analysis of 4 novel variants located in the FGB gene coding for fibrinogen Bβ chain-heterozygous missense BβY416C and BβA68S, homozygous nonsense BβY345*, and heterozygous nonsense BβW403* mutations. The cases were identified by coagulation screening tests and further investigated by various methods. Fibrin polymerization had abnormal development with decreased maximal absorbance in all patients. Plasmin-induced fibrin degradation revealed different lytic phases of BβY416C and BβW403* than those of the control. Fibrinopeptide cleavage measured by reverse phase high pressure liquid chromatography of BβA68S showed impaired release of fibrinopeptide B. Morphological properties, studied through scanning electron microscopy, differed significantly in the fiber thickness of BβY416C, BβA68S, and BβW403*, and in the fiber density of BβY416C and BβW403*. Finally, homology modeling of BβA68S showed that mutation caused negligible alternations in the protein structure. In conclusion, all mutations altered the correct fibrinogen function or structure that led to congenital fibrinogen disorders.

CRISPR-Cas9-mediated mutagenesis of the SlSRM1-like gene leads to abnormal leaf development in tomatoes

Background Leaves, which are the most important organs of plants, can not only fix carbon sources through photosynthesis, but also absorb nutrients through transpiration. Leaf development directly determines the growth, flowering and fruiting of plants. There are many factors that affect leaf development, such as the growth environment, gene expression, and hormone synthesis. In this study, tomatoes were used to study the role of the transcription factor Solanum lycopersicum salt-related MYB1-like (SlSRM1-like) in the development of tomato leaves. Results Loss-of-function of the SlSRM1-like gene mediated by clustered, regularly interspaced, short palindromic repeat (CRISPR)/CRISPR-associated 9 (Cas9) resulted in abnormal tomato leaf morphology, including thinner leaves, wrinkled edges, raised veins, disordered edge veins, and left and right asymmetry. An analysis of the transcription levels of genes related to leaf development revealed that the expression of these genes was significantly altered in the SlSRM1-like mutants (SlSRM1-like-Ms). Moreover, the SlSRM1-like gene was expressed at higher transcription levels in young tissues than in old tissues, and its expression was also induced in response to auxin. In addition, the transcription levels of genes related to the auxin pathway, which regulates tomato growth and development, were severely affected in the SlSRM1-like-Ms. Therefore, it is hypothesized that the SlSRM1-like gene functions in the regulation of tomato leaf development through the auxin-related pathway. Conclusions In this study, we successfully knocked out the SlSRM1-like gene in the tomato variety Ailsa Craig using CRISPR technology and found that knockout of the SlSRM1-like gene resulted in abnormal development of tomato leaves. Further research indicated that SlSRM1-like regulated tomato leaf development through auxin-related pathways. The results provide an important reference for the functional study of other SRM1-like genes in plants and provide new insights into the regulation of leaf development in tomato and other plants.

A case report of refractory congenital chylous ascites in infant – surgical treatment with Fibrin glue

Congenital chylous ascites is a rare disease that results from abnormal development of the intra-abdominal lymphatic system. No gold standard treatment has been described so far, however, a combination of medium–chain triglyceride based diet or total parenteral nutrition along with octreotide and abdominal paracentesis is considered as a conservative management. This treatment is often a challenge to physicians since chylous ascites is often refractory and result in malnutrition and immune deficiency because of the loss of proteins and lymphocytes. We report a four-month old boy with congenital chylous ascites who was refractory to medical treatment with prolonged bowel rest, total parenteral nutrition, octreotide and repeated paracentesis. The baby well responded to surgical treatment with application of fibrin glue on the surface area of the leak site and was discharged after 2 month of hospitalization. When following up the patient had no recurrence of the ascites and he was growing up normally.

TaEXPB5 is responsible for male fertility in thermo-sensitive male-sterility wheat with Aegilops kotschyi cytoplasm

Thermo-sensitive male sterility is of vital importance to heterosis, or hybrid vigor in crop production and hybrid breeding. Therefore, it is meaningful to study the function of the genes related to pollen development and male sterility, which is still not fully understand currently. Here, we conducted comparative analyses to screen fertility related genes using RNA-seq, iTRAQ, and PRM-based assay. A gene encoding expansin protein in wheat, TaEXPB5, was isolated in KTM3315A, which was in the cell wall and preferentially upregulated expression in the fertility anthers. The silencing of TaEXPB5 displayed pollen abortion, the declination or sterility of fertility. Further, cytological investigation indicated that the silencing of TaEXPB5 induced the early degradation of tapetum and abnormal development of pollen wall. These results revealed that the silencing of TaEXPB5 could eliminate the effects of temperature on male fertility, and resulting in functional loss of fertility conversion, which implied that TaEXPB5 may be essential for anther or pollen development and male fertility of KTM3315A. These findings provide a novel insight into molecular mechanism of fertility conversion for thermo-sensitive cytoplasmic male-sterility wheat, and contribute to the molecular breeding of hybrid wheat in the future.

Whole exome sequencing revealed a large deletion in EDAof a Vietnamese patient with hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a congenital genetic disorder caused by mutations in EDA (NM_001399) on chromosome X. Children with HED have the abnormal development of epidermal structures such as skin, hair, nails, teeth, and sweat glands. The present study aimed to detect mutations in EDA of a Vietnamese family with a son having only five teeth and no sweat glands, using whole exome sequencing (WES) and multiplex PCR. The results showed that patient had a deletion of exon 1 in EDA (c.2_396del), which is likely to be inherited from the healthy mother. The results will partly contribute to molecular studies on HED, helping in genetic counseling and disease treatment.

Respiratory Support of Infants With Congenital Diaphragmatic Hernia

Optimisation of respiratory support of infants with congenital diaphragmatic hernia (CDH) is critical. Infants with CDH often have severe lung hypoplasia and abnormal development of their pulmonary vasculature, leading to ventilation perfusion mismatch. It is vital that lung protective ventilation strategies are employed during both initial stabilisation and post-surgical repair to avoid ventilator induced lung damage and oxygen toxicity to prevent further impairment to an already diminished gas-exchanging environment. There is a lack of robust evidence for the routine use of surfactant therapy during initial resuscitation of infants with CDH and thus administration cannot be recommended outside clinical trials. Additionally, inhaled nitric oxide has been shown to have no benefit in reducing the mortality rates of infants with CDH. Other therapeutic agents which beneficially act on pulmonary hypertension are currently being assessed in infants with CDH in randomised multicentre trials. The role of novel ventilatory modalities such as closed loop automated oxygen control, liquid ventilation and heliox therapy may offer promise for infants with CDH, but the benefits need to be determined in appropriately designed clinical trials.

A Review on Management of Amblyopia

Amblyopia is a visual cortex neurodevelopmental condition cause am vision abnormalities during childhood. It is one of the most typical causes of vision loss at an early age. It occurs due to abnormal development of the visual cortex. The part receiving signals from the diseased eye does not receive it correctly and thus develops abnormally. This abnormal development during the critical period of growth of child results in brain damage. Depending on its aetiology the types of amblyopia are Strabismic amblyopia, Visual deprivation amblyopia, Anisometric, Ametropic, Meridional, Toxic amblyopia. Clinical features are visual acuity is reduced, the effect of neutral density filter, the Crowding phenomenon is present. Complications of amblyopia include a Lazy eye becoming weak permanently, the eye may move out from the visual axis (squints). When treating amblyopia, our goal is that the eyes will work together in unison at an equal level; this will create a clear vision in the lazy eye. Amblyopia is treated in various ways depending on the seriousness of the disease and the patient's age. Patching of the non-amblyopic eye, as well as treatment with drugs like atropine, are common treatments. Vision therapy and some modifications to spectacles and contact lenses have been discovered to be effective in treating amblyopia in recent years. Modern Treatment- Falling Blocks, Occlu-pad. With current breakthroughs in amblyopia therapy, the success rate of a multimodal strategy is also improving. The purpose of this review article is to present information on the management of amblyopia. Literature on AMBLYOPIA MANAGEMENT has been taken from PubMed, Scopus, Science Direct, and other internet resources.

Does Size Matter? Toxicity Effects of 5‐nm and 70‐nm Silver Nanoparticles on Hoplobatrachus Rugulosus Frog

With the increased usage of silver nanoparticles (AgNPs), the potential impacts of released AgNPs in the environment are increasingly concerned, especially to natural living organisms. Since the properties of AgNPs significantly depend on their sizes, this work aimed to compare the effects of 5-nm and 70‐nm AgNPs on toxicity and bioaccumulation in Hoplobatrachus rugulosus, the edible East Asian Bullfrog. The synthesized AgNPs were characterized by X‐ray diffraction and selected area electron diffraction analyses. Both 5‐nm and 70‐nm AgNPs caused mortality, reduced growth, induced abnormal development, generated cellular oxidative stress, and modulated cellular biomolecule pattern of frog embryos, but at different levels. The 5‐nm AgNPs caused harmful effects on the frog embryos more than 70-nm AgNPs, likely due to their small size to allow more accessibility into the cell. The mortality effects of AgNPs depended on the concentration, exposure time, and size. The malformation of frog embryos in response to AgNPs-exposure included scoliosis, lordosis, kyphosis, and yolk sac edema. Synchrotron Fourier transformed infrared analyses revealed that 5‐nm AgNPs significantly changed the profile of cellular biomolecules in the embryos, indicated by the spectral peaks assigned to lipid, carbohydrates, proteins, and nucleic acids. The bioaccumulation of silvers was dominant in eggs, followed by stomach, liver, kidney, and intestine, respectively, suggesting their translocation via blood circulation. The result of high accumulated silver in eggs and effects on embryonic mortality, growth, development, and cellular changes suggested the potential negative impacts of AgNPs on the sustainability of this frog in the environment.