Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort

Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder, potentially leading to lethal hyperammonemia. Based on the age of onset, there are two distinct phenotypes: neonatal and late form. The CPS1 enzyme, located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa, is encoded by the CPS1 gene. At present more than 220 clear-cut genetic lesions leading to CPS1D have been reported. As most of them are private mutations diagnosis is complicated.Here we report an overview of the main clinical findings and biochemical and molecular data of 13 CPS1D Italian patients. In two of them, one with the neonatal form and one with the late form, cadaveric auxiliary liver transplant was performed. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their “private” nature. Seven of the newly identified mutations were missense/nonsense changes. In order to study their protein level effects, we performed an in silico analysis whose results indicate that the amino acid substitutions occur at evolutionary conserved positions and affect residues necessary for enzyme stability or function.     

Artificial intelligence in image reconstruction: The change is here

Innovations in CT have been impressive among imaging and medical technologies in both the hardware and software domain. The range and speed of CT scanning improved from the introduction of multidetector-row CT scanners with wide-array detectors and faster gantry rotation speeds. To tackle concerns over rising radiation doses from its increasing use and to improve image quality, CT reconstruction techniques evolved from filtered back projection to commercial release of iterative reconstruction techniques, and recently, of deep learning (DL)-based image reconstruction. These newer reconstruction techniques enable improved or retained image quality versus filtered back projection at lower radiation doses. DL can aid in image reconstruction with training data without total reliance on the physical model of the imaging process, unique artifacts of PCD-CT due to charge sharing, K-escape, fluorescence x-ray emission, and pulse pileups can be handled in the data-driven fashion. With sufficiently reconstructed images, a well-designed network can be trained to upgrade image quality over a practical/clinical threshold or define new/killer applications. Besides, the much smaller detector pixel for PCD-CT can lead to huge computational costs with traditional model-based iterative reconstruction methods whereas deep networks can be much faster with training and validation. In this review, we present techniques, applications, uses, and limitations of deep learning-based image reconstruction methods in CT.     

Cephalic index and perceived dog trainability

People rank breeds of dogs for trainability despite a lack of evidence of breed differences in underlying behaviour. Instead of using behavioural information, people may use dog morphology to determine the trainability of breeds. Dogs are categorized as dolichocephalic, mesocephalic, or brachycephalic based on cephalic index, a ratio between skull width and length. Dolichocephalic breeds are anatomically more specialized for running and brachycephalic breeds are more specialized for fighting. Dog breeds rated as highly trainable are instead mesocephalic, morphological generalists. Looking trainable in dogs may reflect differences in physical morphology.     

Conservation categories of siluroid fishes in North-East Sundarbans,India

In stock fishery of North-East Sundarbans, siluroid fishes hold a remarkable position owing to the culture potentiality of many of them. Scales in fishes play significant role in protection and resistance against environmental stresses and the lack of scalation in case of siluroid fishes is supposed to be one of the reasons for their decline in eco-degraded aquatic habitats. 11 species of fishes belonging to 9 genera, 8 families under the order Siluriformes have been recorded from different water bodies of North-East Sundarbans, India. Fish Magnitude Value (FMV) of those catfishes were recorded especially by information harvested from local fishermen community and stakeholders as well as from market survey on fish landing. The extensive damage to the population of catfishes in the area has placed the fishes under threat categories. Following the IUCN guidelines and also through Participatory Rural Appraisal (PRA) methods, an attempt has been made to assess the status of such fishes. Trend analysis, Fish Magnitude Value (FMV) and Rank Based Quotient (RBQ) revealed 1 catfish as Endangered, 5 as Vulnerable and 5 as Near Threatened species. The situation warrants immediate attention of ecologists, administrators, managers and entrepreneurs to propose remedial measures for revival of the fishes. The study also delineates distribution, present status and conservation measures for revival of the fishes in North-East Sundarbans wet-land environment of West Bengal, India.     

Decrease in respiratory rate in a wolf spider,Pardosa astrigera (L. Koch), under starvation

Effects of starvation on the suryival period and the respiratory rate in adults of a wolf spider, Pardosa astrigera (L. Koch ), were investigated. The spiders used were divided into four groups: well-fed, starved and two limited food groups; in the latter two, each spider was supplied with one leafhopper every second or third day. Adult males and females of P. astrigera could survive for a long time; 28.8±2.7 days and 54.4±18.9 days, respectively, without any food. The longevities shown here were 73.8% for males and 78.6% for females of those of well-fed spiders, indicating that P. astrigera adults have a strong tolerance to starvation. The respiratory rate of well-fed adults showed no tendency to increase or decrease with their aging; the mean respiratory rates were 4.86×10⁻⁴ mg CO₂/mg f.w. (fresh body weight)/hr for males and 3.80×10⁻⁴ mg CO₂/mg f.w./hr for females. The respiratory rates of starved spiders increased during the first two days of starvation but decreased markedly from the third to the twelfth day, and thereafter retained an almost constant level for each sex. The mean respiratory rates after the twelfth day of starvation were 2.49×10⁻⁴ mg CO₂/mg f.w./hr for males and 2.76×10⁻⁴ mg CO₂/mg f.w./hr for females; these values were respectively 48.4% and 63.0% of those prior to starvation. The fresh body weight of starved spiders decreased linearly with time but the rate was small. The respiratory rates of the limited food groups tended to decline with time and thereby their weight losses were minimized. The decrease in the respiratory rate under starvation was considered not to be due to spider exhaustion or senescence but due to an intrinsic change in behaviour and/or metabolism, because when the spiders were supplied with ample food for five days after starvation, the respiratory rate and the body weight rapidly recovered to near the levels prior to starvation. It is suggested that starved spiders use a higher ratio of fat as catabolic substrate than normally fed or satiated ones. Feeding strategies of poikilo-therm predators are discussed.     

Gifted and non-gifted students’ diurnal preference and the relationship between personality,sleep, and sleep quality

The current study had two main objectives. First, we examined gifted and non-gifted students’ diurnal preferences. Secondly, we examined the relationships among age, gender, personality, sleep quality, and chronotype of gifted students. Data were gathered from 276 gifted students and 1921 non-gifted students whose ages range between 7 and 17 years old, in same three cities in Turkey using the Composite Scale of Morningness (CSM) to assess diurnal preference, the Big Five Inventory (BIG-5) to assess personality and the Pittsburgh Sleep Quality Index (PSQI) to measure sleep quality. The first result indicated that gifted students were more morning-oriented compared to non-gifted students. The other main result was that the conscientiousness was the best predictor of CSM scores in gifted students. Additionally, conscientiousness, age, and global PSQI predicted CSM scores, respectively. Moreover agreeableness, conscientiousness, and emotional stability were positively related to morning orientation, while age, sleep quality, sleep latency, daytime dysfunction, and global PSQI were negatively related with chronotype in gifted students.     

行为遗传的双生子研究

本研究采用双生子法对人类几项行为 (简单的生理-心理动作、记忆、智能、个性) 进行了研究。以探讨上述行为中遗传与环境因素的不同影响。结果证明,上述行为均有不同程度的遗传倾向。但这种倾向随着行为的简单到复杂及与环境接触时间的增长有所不同。似乎有减弱的趋势。Abstract: In order to investigate genetic and inviromental factors influenceing human behavios. Authors studies some humen behaviors (Physical-psychological action, memory, intelligence, and personality) with twins method. The result shows that the above behaviors have different genetic prepotency. It seems to be decrease depending on times of contacting enviroment and from simple to complex behaviors.     

Paradoxical role of C1561T glutamate carboxypeptidase II (GCPII) genetic polymorphism in altering disease susceptibility

Glutamate carboxypeptidase II (GCPII) is predominantly expressed in brain, intestinal mucosa and prostate cancer in the form of three splice variants i.e. N-acetylated-α-linked acidic dipeptidase (NAALADase), folyl poly-γ-glutamate carboxypeptidase (FGCP) and prostate specific membrane antigen (PSMA) respectively. Its inhibition was found to confer protection against certain neurological disorders and cancer. Despite the pivotal role of this enzyme, the most common polymorphism i.e. H475Y has not been explored comprehensively in all its splice variants. In this study, we have determined the role of this variant in different disease conditions such as breast and prostate cancers, autism, coronary artery disease (CAD) and miscarriages (N = 1561). Genotyping was done by PCR-RFLP and dideoxy sequencing. Plasma folate levels were estimated by Axysm folate kit. GCPII expression was studied by semi-quantitative RT-PCR. In silico model was developed using PYMOL. We observed the protective role of H475Y variant in cancers [breast cancer; OR (95% CI): 0.81 (0.55–1.19), prostate cancer: OR (95% CI): 0.00 (0.00–0.66)], and in autism (OR (95% CI): 0.47 (0.21–1.03), whereas inflated risk was observed in CAD (OR (95% CI): 1.69 (1.20–2.37) and miscarriages [Maternal OR (95% CI): 3.26 (2.11–5.04); Paternal OR(95% CI): 1.99 (1.23–3.21)]. Further, this variant was found to impair the intestinal folate absorption in subjects with dietary folate intake in the lowest tertile (CC vs. CT in lowest tertile; 7.56 ± 0.85 ng/ml vs. 2.73 ± 045 ng/ml, p = 0.005). In silico model of GCPII showed steric hindrance with H475Y resulting in stereochemical alteration of catalytic site, thus interfering with ligand binding. Statistically significant association was not observed between dietary folate levels and GCPII expression. However, a positive correlation was seen between plasma folate levels and GCPII expression (r = 0.70, p < 0.05). To conclude, our data suggests that GCPII H475Y variant shows inverse association with autism and cancer while showing positive association with CAD and miscarriages.     

Role of the apolipoprotein E and catechol-O-methyltransferase genes in prospective and retrospective memory traits

Human memory is a complex neurocognitive process. By combining psychological and molecular genetics expertise, we examined the APOE ε4 allele, a known risk factor for Alzheimer's disease, and the COMT Val 158 polymorphism, previously implicated in schizophrenia, for association with lowered memory functioning in healthy adults. To assess memory type we used a range of memory tests of both retrospective and prospective memory. Genotypes were determined using RFLP analysis and compared with mean memory scores using univariate ANOVAs. Despite a modest sample size (n=197), our study found a significant effect of the APOE ε4 polymorphism in prospective memory. Supporting our hypothesis, a significant difference was demonstrated between genotype groups for means of the Comprehensive Assessment of Prospective Memory total score (p=0.036; ε4 alleles=1.99; all other alleles=1.86). In addition, we demonstrate a significant interactive effect between the APOE ε4 and COMT polymorphisms in semantic memory. This is the first study to investigate both APOE and COMT genotypes in relation to memory in non-pathological adults and provides important information regarding the effect of genetic determinants on human memory.