Comparison of Oropharyngeal Efficiency Between Two Popular Brands of Marie Biscuits.

OBJECTIVE: The main objective of the study was to compare four measures of TOMASS (number of bites, number of masticatory cycles, number of swallowing and total time taken) across brands of Marie biscuits and gender. METHODOLOGY: The study employed a cross-sectional design with nonrandomized convenience sampling. A total of 60 participants (30 females and 30 males) were recruited for the study in the age range of 18 to 26 years. Prior to enrolment in the study, the participants were screened for potential speech and swallowing issues. Two commercially available crackers (biscuits) in India, Sunfeast Marie Light and Britannia Marie Gold were used. Video recordings of the participants eating the biscuits were analyzed to document four measures of TOMASS. RESULTS: The mean values obtained on all the measures for males were lesser than mean values for females for both the biscuits. Mann-Whitney U test revealed a statistically significant difference across number of swallows and total time taken across gender. There were no significant differences across biscuits on the four TOMASS measures. CONCLUSION: It can be concluded that the TOMASS measures were near similar for both brands of Marie biscuits. Thus, any of these two brands of Marie could be used for clinical swallow evaluation. However, gender needs to be kept in mind, while interpreting the results of TOMASS. Future studies need to be conducted with other brands of Marie biscuit and in other age groups.

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.

Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing loss with JBTS has been reported in the literature. We present the case of a 3.5-year-old boy born to a healthy consanguineous South Indian couple who was presented with ataxic cerebral palsy (CP) and hearing impairment; medical reports confirmed typical brain malformations of JBTS. Hearing impairment was screened by audiological assessment, which confirmed the presence of severe-profound hearing loss with outer hair cell dysfunction. Whole-exome sequencing (WES) was performed to know the molecular aspects of the condition and to detect any novel mutations. The homozygous mutation AHI1 c.2023G > A associated with JBTS type 3 and GJB2 c.71G > A mutation associated with hearing impairment were identified. Sanger sequencing was performed to validate the result and it identified heterozygous AHI1 c.2023G > A and GJB2 c.71G > A in the patient's parents. This study confirms the diagnosis of JBTS by WES helps identify the genetic causes of hereditary disorders that accelerate genetic evaluation and counseling for at-risk families.

PMM2 -CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India.

Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant PMM2 c.710 C > T, p.T237M in the patient coding for the phosphomannomutase 2 (PMM2) confirming molecular testing of CDG. The patient's parents carried heterozygous PMM2 c.710 C > T variants. This study highlights the importance of WES in patients with a developmental disability or other neurological conditions, which is also useful in screening risk factors in couples with infertility or miscarriage issues.

Complementary and Integrative Approaches to Sleep Disorders in Children.

Sleep problems are very common in children and adolescents. Chronic insomnia is the leading cause of sleep disorders in children and adolescents. Adjunctive interventions that address low ferritin levels and vitamin D3 deficiency are helpful in children and adolescents. The addition of l-5-hydroxytryptophan, gabadone, l-theanine, Ashwagandha, omega 3 fatty acids, probiotics in bipolar disorder, and children with colic, meditation, and changing from a high-fat diet to a Mediterranean diet are also helpful adjunctive interventions. Actigraphy data should be collected in future sleep studies because subjective data may not indicate the true effect of the intervention.

Complementary and Integrative Approaches to Prevention and Treatment of Child and Adolescent Obesity.

Childhood obesity is a significant global challenge with increasing prevalence. It is associated with long-term health risks. Interventions especially early on can be effective in the prevention and reducing the impact on health in children. In children, dysbiosis and inflammation are associated with obesity. Studies demonstrate that intensive lifestyle interventions in form of parent education, motivational interviewing to improve diet and exercise as well as mindfulness, and sleep improvement can help alleviate the risk. The article outlines the current research describing complementary and integrative approaches to the prevention and treatment of obesity in children.

Clinical Validation of Feeding Handicap Index for Children (FHI-C).

Children with developmental disabilities (DD) exhibit feeding and swallowing difficulties, which can have an impact on nutritional, developmental, and psychological aspects. The existing tools assess the nature of feeding problems and behaviors only. The present study aimed to assess the physical, functional, and emotional domains in children with DD with feeding issues using Feeding handicap index for children (FHI-C). For clinical validation, FHI-C was administered on the parents/caregivers of 60 children with cerebral palsy, 61 with autism spectrum disorder, 59 with intellectual disability and 60 typically developing children in the age range of 2 to 10 years. The results revealed that the mean scores (Total FHI-C and FHI-C domain scores) were significantly higher for all three clinical groups than for the control group, which revealed good clinical validity. Also, FHI-C was found to have significantly high test-retest reliability. The study presents a valid and reliable tool for assessing the psychosocial handicapping effects of feeding problems in children with DD. FHI-C provides a holistic picture about the psychosocial impact of feeding problems in children with DD and will assist the clinicians in prioritizing the goals for feeding therapy. The scores obtained can be used as reference for pre and post therapy comparison purposes.

Auditory Processing in Children with Specific Language Impairment: A FFR Based Study.

Specific language impairment (SLI) is diagnosed when a child has difficulty in producing or understanding spoken language for no apparent reason. The study attempted to assess the sub-cortical encoding in children with SLI using speech-evoked auditory brainstem response (ABR). The objective of the study was to compare the amplitude and latency of the frequency following response (FFR) parameters between the children with SLI and typically developing children. The frequency following response was recorded using/da/stimuli from ten ears of children diagnosed with SLI. The amplitude and the latencies of the different peaks of FFR in children with SLI were compared with those of typically developing children. The results of the study showed that the latencies of wave C and D were significantly prolonged in children with SLI compared to typically developing children. The waveforms obtained from the typically developing (TD) children were clearer and easily identifiable, with larger negativity observed in the troughs. The waveform morphology was poorer in children with SLI with shallower peaks. Thus, it can be concluded that speech evoked ABR gives an insight into the auditory processing ability of children with SLI. It indicates that signal processing in the auditory pathway of children with SLI is temporally distorted and which might affect the development of language.

Reconstruction of a Craniofacial Defect Using Rapid Prototyping and an Autograft - A Case Report.

Rationale: Achieving predictable aesthetic results of large craniofacial defects has always been difficult, and it requires a multidisciplinary approach. Patient Concern: The chief concern of the patient was poor aesthetics due to a congenital craniofacial defect. Diagnosis: The patient was a known case of plexiform neurofibromatosis and had a congenital temporo-orbital bone defect of unknown origin. Treatment: The reconstruction of the defect was done using rapid prototyping (RPT) and iliac crest graft. Three-dimensional computed tomography imaging and RPT were used to obtain a customized titanium prosthesis to rehabilitate the temporal defect and the defect lateral to the orbit was reconstructed using an iliac crest graft. Outcome: Postoperative results were satisfactory and predictable. The positive change in appearance has improved the psychological well-being of the patient. Take-away Lessons: A multidisciplinary approach, use of advanced and improved technology helps in better treatment planning and achieving desired aesthetic results.

Variations in the amplitude and duration of hyolaryngeal elevation during swallow: Effect of sour and carbonated liquid bolus.

BACKGROUND: Altering sensory properties of food is relevant to the management of swallowing disorders. The current investigation aimed to examine the influence of sour and carbonated stimuli on measures of hyolaryngeal elevation. METHOD: Sixty healthy adults in the age range of 18 to 35 years were assessed using Digital Accelerometry Swallowing Imaging (DASI) while swallowing 5 ml of neutral, sour and carbonated liquid bolus. RESULTS: Sour stimulus was significantly different with higher amplitude and longer durational measures of hyolaryngeal elevation compared to the two other stimuli. CONCLUSION: Sour stimulus facilitates better hyolaryngeal elevation, which implicates its usage in dysphagia management.

Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.

Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we identified a novel frame shift insertion in the abnormal spindle-like microcephaly-associated protein gene in a client with true autosomal recessive primary microcephaly.  Exome sequencing in the present case helped in identifying the true cause behind the disease, which helps in the premarital counselling for the sibling to avoid future recurrence of the disorder in the family.

Novel variants detected in AGT gene among patients with essential hypertension.

INTRODUCTION: AGT is the first gene to be linked to essential hypertension (EHT). It harbors several variants of which only few polymorphisms are found to exhibit positive and negative associations with hypertension. In the present study, the AGT gene was screened to detect already reported and novel variations contributing to the development of hypertension. METHOD: In total, 215 hypertensives and 230 normotensives were screened for variations in all the five exons and a part of promoter of AGT gene using single strand conformation polymorphism analysis followed by sequencing of samples showing mobility shifts on polyacrylamide gels. RESULTS: Five novel variants, namely c.-61G>A in promoter, c.-4+17C>T in intron1, c.24T>C and c.28A>T in Exon2, and c.*90 T>C in 3' untranslated region were detected in the AGT gene. c.-61G>A lies in the promoter region that plays a critical role in its expression. Variation c.-4+17C>T created a new enhancer site. c.24T>C (TCT-TCC) is a silent mutation while c.28A>T (p. M10L) has a possible damaging effect on the AGT protein. c.*90T>C, detected in the 3' untranslated region is thought to play an important role in the translation and stability of the mRNA. CONCLUSION: Studies on the functional role of these novel variants are warranted to understand the mechanism underlying the development of EHT.

Risk conferred by tagged SNPs of AGT gene in causing susceptibility to essential hypertension.

UNLABELLED: Abstract Introduction: AGT gene harbors several variants of which 21 are found to be in high linkage disequilibrium as per Hapmap database. Studies delineating the importance of these tagged SNPs are very limited and lacking from Indian population. In the present study, we evaluated the contribution of four tagged SNPs namely, g.6635G > A, g.6506G > A, g.12840G > A, and g.13828T > C at AGT locus along with the analyses of haplotype and epistatic interactions in causing susceptibility to essential hypertension (EHT). METHODS: About 215 hypertensives and 230 normotensives were genotyped for selected tagged SNPs using PCR-RFLP method. RESULTS: Significant association was obtained for g.6635G > A and g.6506G > A polymorphisms wherein GG homozygotes for both the markers were at risk for developing the condition. g.13828T > C polymorphism specially, female heterozygotes (TC) were found to be at increased risk for EHT. Haplotype GGGC was found to have a significant protective effect (p = 0.0059). Markers g.6506G > A and g.12840G > A resulted in the creation of new enhancer sites thereby affecting splicing process. CONCLUSION: The present report is the first one in the literature showing general- and gender-specific association of g.6506G > A and g.13828T > C polymorphisms, respectively, with EHT. However, further studies for replication of present observations are warranted from other populations and other parts of India.

Children's emotional and behavioral reactions to disasters: role of the primary care physician.

BACKGROUND: Children are especially vulnerable to the effects of disasters. The coming tornado season raises concerns about enduring problems and anniversary reactions related to the May 2013 tornadoes as well as anxiety about the possibility of new events. METHODS: This article describes common emotional and behavioral disaster reactions in children and also identifies reactions unique to a particular age. Reactions are clustered into depressive, anxious, and behavioral symptoms and physiological responses. PRIMARY RESULTS: This article outlines the key elements in assessing children's disaster reactions and provides specific recommendations for situations that would indicate the need for a mental health evaluation such as for directly-exposed children, children who experience disaster-related losses, those with pre-existing vulnerabilities, and those with significant symptoms. PRINCIPAL CONCLUSIONS: Primary care physicians can help identify the emotional and behavioral effects of disasters in children, educate parents to recognize children's reactions, and refer children in need of specialized care.

Contribution of REN gene MBbo I polymorphism in conferring risk for essential hypertension: a case control study from South India.

BACKGROUND: Renin is a rate-limiting enzyme of the renin-angiotensin-aldosterone system (RAAS) that plays a crucial role in the regulation of blood pressure. The renin gene has been suggested as a marker for genetic predisposition to essential hypertension (EHT) in humans. The purpose of the study is to explore the association of a genetic marker of renin gene Mbo I polymorphism with EHT in the South Indian population. METHODS: A total of 279 hypertensive and 200 normotensive subjects were genotyped for REN Mbo I polymorphism (RFLP) using the PCR-restriction fragment length polymorphism method. RESULTS: There were no significant differences in the distribution of genotypes and alleles for REN gene Mbo I polymorphism between hypertensive cases and controls (p>0.05). The genotypic and allele frequencies were in Hardy-Weinberg equilibrium both in cases and controls. Females with Mbo I AA+GA genotypes had 1.87-fold higher risk to develop hypertension as compared with those with GG genotype (odds ratio 1.87; 95% confidence interval = 0.98-3.56, p = 0.057). CONCLUSIONS: Our results indicate that renin gene Mbo I site polymorphism is not associated with blood pressure levels and risk of hypertension. However, the present study demonstrates risk for females who are carriers of REN Mbo I A allele for developing essential hypertension.

Gender-related association of AGT gene variants (M235T and T174M) with essential hypertension--a case-control study.

INTRODUCTION: The human angiotensinogen (AGT) is a promising candidate gene for evaluating susceptibility to essential hypertension (EH). We aimed to assess the association of the variants of AGT gene and the extent of risk involved in developing EH. METHODS: A case-control study was designed to compare 279 hypertensive patients with 200 normotensive subjects. The frequency distribution of M235T and T174M polymorphisms of AGT gene was assessed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. A haplotype analysis was done to determine the risk conferred by the combination of alleles of the two polymorphisms for EH. RESULTS: The genotype distribution of the T174M variant differed significantly between hypertensives and normotensives, whereas genotypes of M235T variant did not show such difference. For M235T, MM genotype conferred an increase in risk for hypertension in women (odds ratios (OR) = 2.82; 95% confidence interval (CI) = 1.22-6.49). For the variant T174M, the TM genotype frequency was elevated in hypertensive females (36.5%) as compared to controls (18.8 %; P = .034). The 174M allele was more prevalent among female hypertensives than among female controls (0.20 vs. 0.12; P = .059). The haplotype analysis showed a significant association for the haplotypes of paired markers (M235 and 174M) with a χ(2) value of 8.037 (P = .045). CONCLUSION: Our findings suggest that the polymorphic variants of AGT gene-M235T and T174M-show association with hypertension.

Risk conferred by FokI polymorphism of vitamin D receptor (VDR) gene for essential hypertension.

BACKGROUND: The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to several diseases. The gene has a critical role in regulating the renin-angiotensin system (RAS) influencing the regulation of blood pressure. Hence determining the association of VDR polymorphisms with essential hypertension is expected to help in the evaluation of risk for the condition. AIM: The aim of this study was to evaluate association between VDRFok I polymorphism and genetic susceptibility to essential hypertension. MATERIALS AND METHODS: Two hundred and eighty clinically diagnosed hypertensive patients and 200 normotensive healthy controls were analyzed for Fok I (T/C) [rs2228570] polymorphism by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Genotype distribution and allele frequencies in patients and controls, and odds ratios (ORs) were calculated to predict the risk for developing hypertension by the individuals of different genotypes. RESULTS: The genotype distribution and allele frequencies of Fok I (T/C) [rs2228570] VDR polymorphism differed significantly between patients and controls (χ(2) of 18.0; 2 degrees of freedom; P = 0.000). FF genotype and allele F were at significantly greater risk for developing hypertension and the risk was elevated for both the sexes, cases with positive family history and habit of smoking. CONCLUSIONS: Our data suggest that VDR gene Fok I polymorphism is associated with the risk of developing essential hypertension.

Preparation, Characterization and in vivo Evaluation of Parenteral Sustained Release Microsphere Formulation of Zopiclone.

The aim of this study was to prepare zopiclone-loaded polycaprolactone microspheres by emulsion solvent evaporation technique with different drug-to-carrier ratios {MP 1 (1:1), MP 2 (1:2), MP 3 (1:3), and MP 4 (1:4)}, characterize and evaluate the in vivo performance. The microspheres were characterized for particle size, surface morphology, drug excipient compatibility, percentage yield, drug entrapment, and in vitro release kinetics. Pharmacokinetics and pharmacodynamics were evaluated after parenteral administration so as to determine the sustained action of the drug after one-time administration of the formulation in a rat model. Of four formulations prepared, MP 2, i.e., 1:2 (drug-polymer) ratio was selected as the optimized formulation based on particle size, particle shape, and the release behavior. The size of microspheres was found to be ranging from 5.4 to 12.1 µm. The shape of microspheres was found to be spherical by SEM. Among the four formulations, MP 2 (1:2) showed maximum percentage yield of 75% ± 2.68%. There was no interaction between drug and polymer by FT-IR study. In the in vitro release study, formulation MP 2 (1:2) showed 86.5% drug release and was found to be sustained for 10 days. The microsphere formulations were able to sustain the release of drug both in vitro and in vivo. Pharmacodynamic study (Maze apparatus) indicated that the anxiolytic activity shown by zopiclone microspheres was significant when compared to the zopiclone solution given daily.

Exudativory in the Bengal slow loris (Nycticebus bengalensis) in Trishna Wildlife Sanctuary, Tripura, northeast India.

In this study we estimated the extent of exudativory in Nycticebus bengalensis and examined whether exudates can be considered as fallback foods. This study was carried out in Trishna Wildlife Sanctuary, northeastern India, in winter (December-February) and summer (March and April). We estimated time-activity budget using instantaneous sampling and used continuous focal animal sampling to record all instances and durations of feeding, over a total of 177 hr. Feeding accounted for 22.3+/-2.2% of the activity budget, with no seasonal difference. Bengal slow lorises fed on exudates, nectar, fruit, bark, invertebrates and avian eggs. In addition to scraping they also obtained exudates by gouging holes into the bark of trees. In winter, lorises almost exclusively fed on exudates (94.3% of winter feeding time). In summer, exudates (67.3%) and nectar from one species (22.3%) dominated the diet. This study identifies the Bengal slow loris as the most exudativorous loris. Exudates rather than being a staple fallback food, seem to be a preferred, patchily distributed and common food in the diet of the Bengal slow loris. Exudativory in this species is characterized by high selectivity among species and seasonal variation, which may be related to variations in productivity of exudates and their chemical composition. An understanding of these factors is necessary for predicting the response of this species to human disturbance such as logging. This study also underscores the importance of protecting some of the common species such as Terminalia belerica on which the loris feeds during periods of scarcity.

Cryopreservation of in vitro grown shoots of ginger (Zingiber officinale Rosc.).

An efficient cryopreservation technique for in vitro grown shoots of ginger (Zingiber officinale Rosc) was developed based on encapsulation dehydration, encapsulation vitrification and vitrification procedures. Pregrowth and serial preculture were needed to obtain the best regrowth for all techniques. The vitrification procedure resulted in higher regrowth (80%) when compared to encapsulation vitrification (66%) and encapsulation dehydration (41%). In the vitrification procedure shoots were: precultured in liquid Murashige-Skoog medium containing 0.3 M sucrose for 3 days; cryoprotected with a mixture of 5% DMSO and 5% glycerol for 20 min at room temperature; osmoprotected with a mixture of 2 M glycerol and 0.4 m sucrose for 20 min at 25 degrees C; before being dehydrated with a highly concentrated vitrification solution (PVS2) for 40 min at 25 degrees C. The dehydrated shoots were transferred to 2 ml cryotubes, suspended in 1 ml PVS2 and plunged directly into liquid nitrogen. In all the three cryopreservation procedures tested, shoots grew from cryopreserved shoot tips without intermediary callus formation. The genetic stability of cryopreserved ginger shoot buds were confirmed using ISSR and RAPD profiling.