Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years

Infant vocalizations are early-emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)- and high (HR)-risk for ASD (HR-ASD = 23, female = 3; HR-Neg = 35, female = 13; LR = 32, female = 10; 80% White; collected from 2007 to 2017 near Philadelphia) were analyzed at 6, 12, and 24 months. At 12 months, HR-ASD infants produced fewer vocalizations than HR-Neg infants. From 6 to 24 months, HR-Neg infants demonstrated steeper vocalization growth compared to HR-ASD and LR infants. Finally, among HR infants, vocalizing at 12 months was associated with language, social phenotype, and diagnosis at age 2. Infant vocalizing is an objective behavioral marker that could facilitate earlier detection of ASD.     

Diurnal variation in serum glucose,pyruvate, lactate and lactate dehydrogenase levels under different environmental temperatures

Circadian rhythm of serum glucose, pyruvate, lactate and lactate dehydrogenase (LDH) was studied in normal healthy young volunteers at the onset (I Group, 7 cases) and peak (II Group, 8 cases) of winters in India with highly varied temperature. There was a significant difference, in the circadian rhythm of glucose, pyruvate and lactate dehydrogenase (LDH) of the two groups. A clockwise shift was observed in acrophase except in serum lactate, which is related to the energy demand in association with time qualified changes in diurnal activity of the individuals and change in photoperiod.     

Lipid peroxide levels and antioxidant status in alcoholic liver disease

The present study was conducted to evaluate some of the components of antioxidant defense system and oxidative damage in 20 male patients of alcoholic liver disease (ALD). The results were compared with 20 healthy male smokers and 20 healthy male non-smokers volunteers. Patients were subjected to detailed clinical examination and laboratory investigations. Blood samples were collected for estimating reduced glutathione (GSH), total thiols (T-SH) malondialdehyde (MDA), transaminases (AST, ALT), glutathione-S-transferease (GST) and gammaglutamyl transferase (GGT). Serum aspartate amino transferase (AST)/alanine amino transferase (ALT) ratio was significantly (p<0.01) reduced in ALD patients as compared to the controls. However, the core of utility of MDA and GST was found to be significantly (p<0.01) increased in ALD patients compared to controls. There was a significant negative correlation of MDA with both GSH and TSH. Plasma GGT levels were significantly (p<0.01) increased in alcoholics and the enzyme showed a significant positive correlation with MDA. These results give enough evidence of increased oxidative stress and compromised antioxidant defense system in patients with ALD.     

Amplitude-modulated sinusoidal microchannels for observing adaptability in C. elegans locomotion

In this paper, we present a movement-based assay to observe adaptability in Caenorhabditis elegans locomotion behavior. The assay comprises a series of sinusoidal microchannels with a fixed wavelength and modulating (increasing or decreasing) amplitude. The channel width is comparable to the body diameter of the organism. Worms are allowed to enter the channel from the input port and migrate toward the output port. Within channel sections that closely match the worm's natural undulations, the worm movement is relatively quick and steady. As the channel amplitude increases or decreases along the device, the worm faces difficulty in generating the propulsive thrust, begins to slow down and eventually fails to move forward. A set of locomotion parameters (i.e., average forward velocity, number and duration of stops, range of contact angle, and cut-off region) is defined for worm locomotion in modulated sinusoidal channels and extracted from the recorded videos. The device is tested on wild-type C. elegans (N2) and two mutants (lev-8 and unc-38). We anticipate this passive, movement-based assay can be used to screen nematodes showing difference in locomotion phenotype.     

Effect of Oestrogen on Altering the Serum and Urinary Levels of Calcium,Phosphate and Magnesium in Hysterectomised Women Compared to Natural Menopausal South Indian Women: A Case Control Study

Given the paucity of studies conducted to know the effect of suddenness and earlier onset of endocrinological changes associated with hysterectomy, on the serum and urinary levels of calcium, magnesium and phosphate the present study was conducted to compare the levels of calcium, magnesium and phosphate in serum and urine of hysterectomised and natural menopausal south Indian women. This is a cross-sectional observational study. The study included three groups of 30 healthy premenopausal, 30 early surgical menopausal and 30 natural post menopausal women. Women suffering from any endocrine disease were excluded. Analysis was performed in serum and urine sample. The levels of calcium, magnesium and phosphate in serum and calcium/creatinine, magnesium/creatinine and phosphate/creatinine ratio were estimated in urine by spectrophotometric method. Hysterectomised women (serum calcium: 8.7 ± 0.09 mg/dl; urine calcium/creatinine: 0.16 ± 0.02) have significantly low serum calcium (p < 0.001) and high urinary calcium/creatinine (p = 0.002) ratio and post menopausal women (serum magnesium: 2.1 ± 0.03; serum phosphate: 4.4 ± 0.16; urinary calcium/creatinine: 0.17 ± 0.02; urinary magnesium/creatinine: 0.09 ± 0.01) have significantly high serum magnesium (p = 0.016), serum phosphate (p = 0.043) and high urinary calcium/creatinine (p = 0.002), magnesium/creatinine ratio (p = 0.025) compared to healthy pre menopausal women. Post menopausal women (serum calcium: 9.1 ± 0.08) have significantly high serum calcium and phosphate compared to hysterectomised women (serum phosphate: 3.93 ± 0.11). Hysterectomised women have significantly low serum calcium, oestrogen and high urinary calcium/creatinine ratio compared to healthy premenopausal women and low serum calcium and low serum phosphate compared to natural postmenopausal women. Natural postmenopausal women had low serum oestrogen and high serum magnesium, serum phosphate, urinary calcium creatinine ratio and urinary magnesium creatinine ratio compared to healthy premenopausal women.     

Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia

Hepcidin is a 25-amino acid peptide hormone produced by hepatocytes and plays a key role in body iron metabolism. Hepcidin deficiency is the cause of iron overload in hereditary hemochromatosis, iron-loading anemia, and its excess is associated with anemia of inflammation, chronic disease and iron deficiency anemia (IDA). The aims of this study was to evaluate HAMP gene mutation, namely IVS2 + 1(–G) (c.148–150 + 1del) and Gly71 Asp (c.212G > A (rs104894696) association with iron status in IDA conditions. Our study participants were 500 IDA patients and 550 age and sex-matched healthy controls. Hepcidin, ferritin and CRP analysis was done by ELISA method while ESR analysis was done according to Wintrobe method. CBC analysis was done by auto-analyzer. Two mutations in the HAMP genes were analysed by PCR RFLP method. Among the IDA patients, 7 were heterozygous for Met50del IVS2 + 1(–G) mutation. Nine IDA patients were heterozygous for G71D G–A mutation and homozygous were not identified in both mutations.Controls were showing heterozygous frequency 1.8 and 2.1% of Met50del IVS2 + 1(–G) and G71D G–A mutations respectively. Mutation of HAMP (Met50del IVS2 + 1(–G) and G71D G–A) were clinically associated with IDA and act as modulator of disease.     

Effect of Interaction Between Duration of Alcohol Consumption and Alcohol Dependence on Thyroid Function Test: Cross Sectional Observational Study

Dependence on alcohol, nicotine and duration of alcohol consumption are known to alter thyroid function tests. This study was conducted to assess the effect of interaction between the duration of alcohol consumption and alcohol dependence on TFT. The subjects consisted of 38 male patients with alcohol dependent syndrome co morbid with nicotine dependent syndrome, 33 male patients with alcohol dependent syndrome and 30 male normal healthy volunteers. Liver function tests, haematological parameters and thyroid function tests were assayed. Two way multivariate ANOVA was used to assess the interaction effect by SPSS 21 package. Multivariate analysis of combined TFT levels revealed no significant (P = .078) difference amongst groups based on alcohol dependence, significant difference (P = .001) amongst groups based on duration of alcohol consumption and no significant (P = .604) interaction effect between duration of alcohol consumption and alcohol dependence. Tests of between subject effects for individual TFT revealed significant (P = .014) difference in T3 between groups based on alcohol dependence, significant difference in the levels of fT4 (P = .001), T3 (P = .07) and T4 (P < .001) between groups based on duration of alcohol consumption was observed. Interaction between the effect of duration of alcohol consumption and alcohol dependence for individual TFT did not reveal any significance. fT4, TSH and T4 levels were significantly low in persons consuming alcohol for more than 20 years. TSH levels were significantly low in ADS compared to controls. Significant decrease in the levels of thyroid hormones was observed as the duration of alcohol consumption increased.