Identification of the rice Rc gene as a main regulator of seed survival under dry storage conditions.

Seed deterioration during storage results in poor germination, reduced vigour, and non-uniform seedling emergence. The aging rate depends on storage conditions and genetic factors. This study aims to identify these genetic factors determining the longevity of rice (Oryza sativa L.) seeds stored under experimental aging conditions mimicking long-term dry storage. Genetic variation for tolerance to aging was studied in 300 Indica rice accessions by storing dry seeds under an elevated partial pressure of oxygen (EPPO) condition. A genome-wide association analysis identified 11 unique genomic regions for all measured germination parameters after aging, differing from those previously identified in rice under humid experimental aging conditions. The significant single nucleotide polymorphism in the most prominent region was located within the Rc gene, encoding a basic helix-loop-helix transcription factor. Storage experiments using near-isogenic rice lines (SD7-1D (Rc) and SD7-1d (rc) with the same allelic variation confirmed the role of the wildtype Rc gene, providing stronger tolerance to dry EPPO aging. In the seed pericarp, a functional Rc gene results in accumulation of proanthocyanidins, an important sub-class of flavonoids having strong antioxidant activity, which may explain the variation in tolerance to dry EPPO aging.

Cu(II)-Metallized Three-Layered Cu-8HQ Complex with Hierarchical Crystallite Morphologies Synthesized via Reaction-Diffusion.

Self-organization of regular band patterns of the precipitate via a reaction-diffusion (RD) framework is called Liesegang phenomenon. This non-equilibrium system is emerging as an efficient method for synthesizing materials with unique morphologies that may have desired properties. The formation of continuous precipitation inside a band with poor control over the shape and size of sparingly soluble salts has been well documented. However, only a few reports on forming organic-inorganic bonds are available. In the present work, we demonstrate the formation of 2D frameworks of bis-(8-hydroxyquinoline) copper(II) in the agar gel via RD. The macroscopic particles were dumbbell-shaped, with aspect ratios ranging from 2.7 (inner bands) to 0.7 (outer bands). The particles were composed of ribbon-shaped crystallites at the microscopic level, each with three layers of parallelogram prismatic monoclinic sheets stacked over one another, which could easily be exfoliated. The powder X-ray diffraction patterns at low angles and the surface areas of the crystallites indicated the formation of metal-organic frameworks. It was observed that the sizes of the particles could be tuned by controlling the extent of diffusion using reactant concentrations. Since such heterostructures have energy storage capacity, the cyclic voltammograms of the unexfoliated and exfoliated materials showed that they fall in the pseudocapacitor category with potential application as the electrode material. The frameworks were further characterized by techniques such as optical and electron microscopy, X-ray diffraction, IR spectroscopy, and UV-visible spectrophotometry.

Novel sensitive isothermal-based diagnostic technique for the detection of African swine fever virus.

A rapid, simple, and sensitive diagnostic technique for the detection of African swine fever virus (ASFV) nucleic acid was developed for testing clinical samples in the field or resource-constrained settings. In the current study, the saltatory rolling-circle amplification (SRCA) technique was used for the first time to detect ASFV. The technique was developed using World Organization for Animal Health (WOAH)-approved primers targeting the p72 gene of the ASFV genome. The assay can be performed within 90 minutes at an isothermal temperature of 58°C without a requirement for sophisticated instrumentation. The results can be interpreted by examination with the naked eye with the aid of SYBR Green dye. This assay exhibited 100% specificity, producing amplicons only from ASFV-positive samples, and there was no cross-reactivity with other pathogenic viruses and bacteria of pigs that were tested. The lower limits of detection of SRCA, endpoint PCR, and real-time PCR assays were 48.4 copies/µL, 4.84 × 103 copies/µL, and 4.84 × 103 copies/µL, respectively. Thus, the newly developed SRCA assay was found to be 100 times more sensitive than endpoint and real-time PCR assays. Clinical tissue samples obtained from ASFV-infected domestic pigs and other clinical samples collected during 2020-22 from animals with suspected ASFV infection were tested using the SRCA assay, and a 100% accuracy rate, negative predictive value, and positive predictive value were demonstrated. The results indicate that the SRCA assay is a simple yet sensitive method for the detection of ASFV that may improve the diagnostic capacity of field laboratories, especially during outbreaks. This novel diagnostic technique is completely compliant with the World Health Organization's "ASSURED" criteria advocated for disease diagnosis, as it is affordable, specific, sensitive, user-friendly, rapid and robust, equipment-free, and deliverable. Therefore, this SRCA assay may be preferable to other complex molecular techniques for diagnosing African swine fever.

Effect of cryopreservation and capacitation on expression patterns of ATP synthesis associated genes in bubaline spermatozoa.

This study investigated the expression patterns of certain ATP synthesis associated genes (GAPDHS, PGK2, ENO4 and MDH2) in fresh and frozen-thawed bubaline spermatozoa vis-à-vis capacitation. Eight adult Murrah buffalo bulls, aged 5-7 years, were randomly selected from a bull farm and fresh semen was collected once a week for four weeks (n = 32) from the selected bulls. Simultaneously, frozen straws of the same bulls were collected (n = 32, four straws were pooled per sample). The samples were divided into four groups i.e., fresh non capacitated (control/group 1), fresh capacitated (group 2), frozen non capacitated (group 3) and frozen capacitated (group 4). In all groups mRNA extraction was done. The mRNA expression of GAPDHS was significantly higher in group 3 compared to the other groups, whereas the expression of ENO4 was significantly up-regulated in group 2 and 3 compared to the group 4. Similarly, the mRNA expression of PGK2 was significantly up-regulated in group 3 whereas in case of MDH2, it was significantly higher in group 2, 3 and 4 compared group 1. It can be concluded from our study that freezing and capacitation has a significant effect on the expression dynamics of the ATP synthesis-associated genes warranting necessary interventions in handling procedures to minimise the adverse effect of freezing on ATP synthesis process to ensure persistence of fertilizing ability of sperm.

Effect of biostimulation on growth rate and reproductive development of Bos indicus dairy heifers.

The present study aimed to compare the growth rate, feeding behavior, reproductive development, and concentrations of GH and leptin in Sahiwal heifers exposed to direct bull contact, bull contact through a fenceline, or isolated from bulls. Overall, 24 heifers were allotted to three treatment groups (n = eight/group) based on birth weight, body weight, and age. Heifers from the non-exposed group (NBE) remained isolated from bulls; heifers stimulated by fenceline bull contact (FBE) remained continuously exposed to bulls through a fenceline, and heifers with direct bull contact (DBE+FBE) had direct contact with a bull during 6 h/day plus continuous fenceline bull exposure for the entire 24 h period. It was considered that heifers attained puberty when progesterone concentration was >1 ng/mL. Biostimulated heifers achieved puberty at both a lower age and body weight (P < 0.05) than NBE heifers. Overall, average daily gain (g/day) was greater in DBE+FBE (516.3 ± 4.5) and FBE (501.6 ± 4.3) than in NBE (441.8 ± 2.9, respectively; P < 0.01). Leptin and growth hormone concentrations were significantly greater in FBE and DBE+FBE than NBE heifers. Both groups of biostimulated heifers devoted more time eating than NBE heifers, P < 0.05). In conclusion, biostimulation of Sahiwal heifers, either by exposing them to bulls through a fenceline or by both fenceline exposure and direct contact, reduced the age of puberty and increased growth performance. Overall, fenceline bull exposure can be recommended as an easy handling management to stimulate reproductive precocity and growth rate in heifers.

Precise Evaluation of Spatial Characteristics of Periodically Precipitating Systems via Measurement of RGB (Red, Green, and Blue) Values of Pattern Images.

In the present study, a method is described for precise determination of spatial characteristics of Liesegang bands formed by employing a classical 1D setup using a web-based free resource (https://www.ginifab.com/feeds/pms/color_picker_from_image.php). The method involves the compartmentalization of the information on each pixel into R (red), G (green), or B (blue) values from the pattern images obtained using a simple digital camera. The values can further be converted to absorbance values by using the system blank. Each trough (or peak) in the graph of RGB values (or absorbance values) corresponds to a band in the pattern. The method is employed to determine the spacing and width of the periodically precipitating AgCl, AgBr, and Co(OH)2 in an agar gel. It is observed that AgCl shows revert banding, and AgBr shows revert banding at the top of the tube and then diverges to regular banding at the bottom of the tube, whereas the Co(OH)2 patterns explicitly show regular banding under given experimental conditions. It is also observed that minute instabilities, such as the formation of secondary bands, can also be visualized by the present method.

Imaging pitfalls in paediatric posterior fossa neoplastic and non-neoplastic lesions.

Paediatric posterior fossa lesions can have much overlap in their clinical and radiological presentation. There are, however, a number of key imaging features that can help the reading radiologist to distinguish tumours from important tumour mimics which are often inflammatory or metabolic entities. This pictorial review provides a number of important cases that proved challenging on imaging and illustrates some common pitfalls when interpreting lesions in the posterior fossa in children. Not everything that is abnormal will be a tumour, but often other causes are overlooked and misinterpreted as tumours, leading to great morbidity for that child. This article highlights some lesions that were mistaken as tumours and will introduce the reader to less commonly seen pathologies which are important to consider on a differential list for this location.

Spatial prediction of soil depth using environmental covariates by quantile regression forest model.

Prediction of soil depth for larger areas provides primary information on soil depth and its spatial distribution that becomes vital for land resource management, crop, nutrient, and ecosystem modeling. The present study assessed the spatial distribution of soil depth over 160,205 km2 of Andhra Pradesh, India, using 20 covariables by quantile regression forest (QRF). An aggregate of 2854 soil datasets compiled from various physiographic units were randomly partitioned into 80:20 ratio for calibration (2283 samples) and validation (571 samples). Landsat imagery, terrain datasets (8), and bioclimatic factors (11) were utilized as covariates. The QRF model outputs signified that precipitation, multi-resolution index of valley bottom flatness (MrVBF), mean diurnal range, isothermality, and elevation were the most important variables influencing soil depth variability across the landscape. Spatial prediction of soil depth by QRF model yielded a ME of - 1.81 cm, RMSE of 34 cm, PICP of 90.2, and a R2 value of 42% as compared to ordinary kriging which results in a ME of - 0.14 cm, a RMSE of 37 cm, and a R2 value of 32%. As soil depth is spatially dynamic and has significant correlation with terrain and environmental covariates, better prediction was possible by the QRF model. However, high-density bioclimatic variables could be utilized along with high-resolution terrain variables to improve the predictive accuracy.

Growth performance and rumen development in Malabari kids reared under different production systems.

In order to investigate the effect of rearing systems on growth and rumen development in Malabari male kids, 14 pre-weaned Malabari male kids of uniform morphological characters were randomly divided into two equal groups as T1 and T2. Both the groups were reared intensively for 12 weeks whereby kids under T1 group were allowed to suckle their dams and provided green grass ad libitum. The kids under T2 were weaned at the age of 7 days and provided formulated semi-solid broiler goat concentrate diet through the feeding bottle and were not offered any grass/roughage. Parameters like live weight gain, daily weight gain and body measurements were studied to evaluate the growth performance. However, gastrointestinal tract morphometric studies and qualitative morphological analysis of rumen papillae were undertaken to measure the rumen development. The daily weight gain of kids under T2 was significantly (P ≤ 0.01) higher than the daily weight gain of kids under T1. Also, the body measurements like height at withers, heart girth and body length were significantly (P ≤ 0.01) higher in T2 than in T1. The rumen and abomasum were comparatively more developed in T2 than in T1. The morphology of rumen papillae in both groups was different in size, shape and colour. The length, width, density and surface area of rumen papillae among kids in T2 were significantly (P ≤ 0.01) higher than those kids in T1. The results of the present study indicated that the feeding of semi-solid broiler goat concentrate diet improved growth performance and early rumen development in kids.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

BACKGROUND: Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple genetic diagnoses in families is largely unknown. AIMS: We set out to identify the rate of multiple genetic diagnoses in probands and their families referred for analysis in two national research programs in Canada. MATERIALS & METHODS: We retrospectively analyzed WES results for 802 undiagnosed probands referred over the past 5 years in either the FORGE or Care4Rare Canada WES initiatives. RESULTS: Of the 802 probands, 226 (28.2%) were diagnosed based on mutations in known disease genes. Eight (3.5%) had two or more genetic diagnoses explaining their clinical phenotype, a rate in keeping with the large published studies (average 4.3%; 1.4 - 7.2%). Seven of the 8 probands had family members with one or more of the molecularly diagnosed diseases. Consanguinity and multisystem disease appeared to increase the likelihood of multiple genetic diagnoses in a family. CONCLUSION: Our findings highlight the importance of comprehensive clinical phenotyping of family members to ultimately provide accurate genetic counseling.

Cross-sectional Serosurvey of Crimean-Congo Hemorrhagic Fever Virus IgG in Livestock, India, 2013-2014.

We conducted a cross-sectional serosurvey of Crimean-Congo hemorrhagic fever (CCHF) among livestock in 22 states and 1 union territory of India. A total of 5,636 samples from bovines, sheep, and goats were screened for CCHF virus IgG. IgG was detected in 354 samples, indicating that this virus is widespread in this country.

Effects of graded levels of tannin-containing tropical tree leaves on in vitro rumen fermentation, total protozoa and methane production.

AIMS: This study was carried out to determine the effect of graded levels of tannin-containing tropical tree leaves, Autocarpus integrifolis, Azardirachta indica and Ficus bengalensis, on the in vitro rumen fermentation pattern, total protozoa and methane suppression in order to establish the optimum dose of these leaves for inclusion in the ruminant diets. METHODS AND RESULTS: The air-dried and ground samples of Au. integrifolis, Az. indica and Ficus bengalensis were subjected to in vitro incubation using 30 ml buffered rumen fluid at 0, 2.5, 5.0, 10.0, 15.0, 20.0, 25.0 and 30.0% (dry matter refers to moisture-free basis) of a total mixed ration (TMR: refers to mixture of roughage and concentrate containing cereals and oil cakes) devoid of tannin. The TMR for the experimental incubation was prepared by mixing 40 parts of ground Elusine coracana straw as roughage source with 60 parts of concentrate mixture. The leaves contained an average 130 g kg(-1) CP with 7·0 MJ of ME kg(-1) DM. The average neutral detergent fibre (NDF) content was <400 g kg(-1) DM. Highest total phenol (TP; g kg(-1) DM) was recorded in Az. indica (108) followed by F. bengalensis (103) and Au. integrifolis (76), and total tannin (TT) content also showed similar trend. However, condensed tannin (CT) was highest in F. bengalensis (260) followed by Au. integrifolis (186) and Az. indica (138). There was significant (P < 0.05) reduction in the NH3 concentration in the presence of all the leaves. Autocarpus integrifolis tannins did not cause inhibition of total volatile fatty acid (TVFA: refers to the concentration of volatile fatty acids, viz. acetic, butyric and propionic) concentration, whereas F. bengalensis and Az. indica tannins at higher level of incubation (>5.0%) reduced TVFA concentration. Protozoa (cells per mL) were similar at all levels of inclusion with Au. integrifolis, but reduced in case of F. bengalensis and Az. indica. As the level of tannin increased in the incubation medium, there was a linear reduction in methane concentration. Highest methane reduction (%) was recorded in incubations supplemented with Az. indica (61.5) followed by F. bengalensis (46.8) and Au. integrifolis (30.3). CONCLUSIONS: It was established from this study that tropical leaves of F. bengalensis, Au. integrifolis and Az. indica suppress methanogenesis. SIGNIFICANCE AND IMPACT OF THE STUDY: Ficus bengalensis, Au. integrifolis and Az. indica leaves are of interest in the enteric methane ameliorative strategies. Total mixed ration containing 10-15% ground F. bengalensis or Au. integrifolis or Az. indica leaves could be fed to ruminants to reduce enteric methanogenesis. However, in vivo trials need to be carried out to validate these in vitro results.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

BACKGROUND & OBJECTIVES: Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl galactosamine-4-sulphatase resulting from mutations in the arylsulphatase B (ARSB) gene. The ARSB gene is located on chromosome 5q11-q13 and is composed of eight exons. More than hundred ARSB mutations have been reported so far, but the mutation spectrum of MPS VI in India is still unknown. Hence, the aim of the present study was to identify the mutational spectrum in patients with MPS VI in India and to study the genotype-phenotype association and functional outcomes of these mutations. METHODS: Molecular characterization of the ARSB gene by Sanger sequencing was done for 15 patients (aged 15 months to 11 yr) who were enzymatically confirmed to have MPS VI. Age of onset, clinical progression and enzyme activity levels in each patient were studied to look for genotype-phenotype association. Haplotype analysis performed for unrelated patients with the recurring mutation W450C, was suggestive of a founder effect. Sequence and structural analyses of the ARSB protein using standard software were carried out to determine the impact of detected mutations on the function of the ARSB protein. RESULTS: A total of 12 mutations were identified, of which nine were novel mutations namely, p.D53N, p.L98R, p.Y103SfsX9, p.W353X, p.H393R, p.F166fsX18, p.I220fsX5, p.W450L, and p.W450C, and three were known mutations (p.D54N, p.A237D and p.S320R). The nine novel sequence variants were confirmed not to be polymorphic variants by performing sequencing in 50 unaffected individuals from the same ethnic population. INTERPRETATION & CONCLUSIONS: Nine novel mutations were identified in MPS VI cases from India in the present study. The study also provides some insights into the genotype-phenotype association in MPS VI.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined immunodeficiency disease. Diagnosis of TC deficiency is suspected based on megaloblastic anemia, elevation of total plasma homocysteine, and blood or urine methylmalonic acid. It is confirmed by studying the synthesis of TC in cultured fibroblasts, or by molecular analysis of the TCN2 gene. TC deficiency is treatable with supplemental cobalamin, but the optimal type, route and frequency of cobalamin administration and long term patient outcomes are unknown. Here we present a series of 30 patients with TC deficiency, including an update on multiple previously published patients, in order to evaluate the different treatment strategies and provide information about long term outcome. Based on the data presented, current practice appears to favour treatment of individuals with TC deficiency by intramuscular injections of hydroxy- or cyanocobalamin. In most cases presented, at least weekly injections (1 mg IM) were necessary to ensure optimal treatment. Most centres adjusted the treatment regimen based on monitoring CBC, total plasma homocysteine, plasma and urine methylmalonic acid, as well as, clinical status. Finally, continuing IM treatment into adulthood appears to be beneficial.

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

BACKGROUND: the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS: retrospective and ongoing study of an extended family carrying the MTTL1 A3243G mutation with multiple symptomatic individuals. tissue heteroplasmy is reviewed based on the clinical presentations, imaging studies, laboratory findings in affected individuals and pathological material obtained at autopsy in two of the family members. RESULTS: there were seven affected individuals out of thirteen members in this three generation family who each carried the MTTL1 A3243G mutation. the clinical presentations were varied with symptoms ranging from hearing loss, migraines, dementia, seizures, diabetes, visual manifestations, and stroke like episodes. three of the family members are deceased from MelaS or to complications related to MelaS. CONCLUSIONS: the results of the clinical, pathological and radiological findings in this family provide strong support to the current concepts of maternal inheritance, tissue heteroplasmy and molecular pathogenesis in MelaS. neurologists (both adult and paediatric) are the most likely to encounter patients with MelaS in their practice. genetic counselling is complex in view of maternal inheritance and heteroplasmy. newer therapeutic options such as arginine are being used for acute and preventative management of stroke like episodes.

Recent Advances in Caries Prevention-An Update.

Management of dental caries has seen a significant development in recent years. A diagnosis based on risk indicators and risk factor assessments, early identification, and caries prevention are some of the most recent and efficient strategies. The recent advancements in dental caries prevention strategies are briefly covered in this overview.

Tumefactive demyelination: clinical, imaging and follow-up observations in thirty-nine patients.

PURPOSE: We describe the clinical, neuroimaging and pathological features and therapeutic outcome in a large cohort of 39 patients with tumefactive demyelination. MATERIALS AND METHODS: A retrospective audit of 39 patients with 'tumefactive demyelination' was performed. The demographic, clinical, MR imaging and pathological details were reviewed. RESULTS: The clinical course was monophasic (n = 22) or relapsing-remitting (n = 17). Common neurological manifestations at presentation included hemiparesis - 27; ataxia - 11; vomiting - 10; headache -9; ophthalmoplegia - 7; seizure - 5; impaired vision - 4; aphasia - 4; visual field defects - 3; papilloedema - 5; extrapyramidal - 5; intellectual decline - 5; behavioural disturbances - 3; altered sensorium - 5. MRI revealed fronto-parietal lesions, which were isolated in 14 (36%) patients. Moderate perilesional oedema and/or mass effect was noted in 12 (30.8%) patients. Post-contrast MR sequences revealed partial ring enhancement in 15, complete ring in seven, patchy enhancement in six, uniform enhancement in two and lack of enhancement in nine cases. Clinical and MR characteristics did not help distinguish between monophasic and relapsing-remitting subgroups. In the monophasic group, 53.8% had complete recovery, while 38.5% had partial improvement (follow-up duration, 8.31 ± 9.3 months). In the relapsing-remitting subgroup, the median time to relapse was 4 months (n = 12, follow-up, 37.8 ± 39.4 months). Patients with monophasic course or single relapse received steroids. Patients with more than one relapse received cyclophosphamide (2), mycophenolate (1), azathioprine (1) or methotrexate (1). CONCLUSIONS: A high proportion of cases of tumefactive demyelination follow a relapsing course, thus necessitating a long-term follow-up. MRI, although helpful in diagnosis, does not predict monophasic or relapsing-remitting course. Guidelines for the management of acute episodes and prevention of relapses are required.

Effect of plant secondary compounds on in vitro methane, ammonia production and ruminal protozoa population.

AIMS: The objective of this study was to evaluate the potential of secondary plant metabolites from 38 sources to serve as antimethanogenic additives in ruminant diets. The effect of leaf tannins from these different plant sources on rumen fermentation, protozoal populations and methanogenesis was also studied. METHODS AND RESULTS: Samples (200 mg dry matter, DM) were incubated without and with polyethylene glycol (PEG)-6000 (400 mg DM) as a tannin binder during 24-h incubation in the in vitro Hohenheim gas system. In the leaf samples, total phenol (g kg(-1) DM) was maximum in Pimenta officinalis (312) followed by Oenothera lamarckiana (185) and Lawsonia inermis (105). Of the 38 samples, condensed tannins exceeded 4.0 g kg(-1) in only Alpinia galanga (7.50), Cinnamomum verum (4.58), Pelargonium graveolens (18.7) and Pimenta officinalis (23.2) and were not detected in seven samples. When the bioactivity of the leaf samples was assessed using the tannin bioassay, the percentage increase in the amount of gas produced during incubation of samples with the tannin-binding agent PEG-6000 over the amount produced during incubation without the tannin binder ranged from nil (zero) to 367%, with the highest being recorded with A. galanga leaves. The ratio of methane reduction per ml of total gas reduction was maximum with Rauvolfia serpentina (131.8) leaves, followed by Indigofera tinctoria (16.8) and Withania somnifera (10.2) leaves. Total and differential protozoal counts increased with added PEG in twenty-two samples, maximum being in Pimenta officinalis. Increased accumulation of total volatile fatty acids during incubation with added PEG-6000 was recorded, and the values ranged from zero to 61%. However, the increase was significant in only 11 of the 38 tannin sources tested indicating noninterference of tannin on in vitro fermentation of carbohydrates by the majority of samples tested. Conversely, in 26 of 38 plant sources, the leaf tannins reduced N-digestibility as evidenced by increased accumulation of NH3 -N with added PEG. CONCLUSIONS: Our study unequivocally demonstrated that plants containing secondary metabolites such as Rauvolfia serpentine, Indigofera tinctoria and Withania somnifera have great potential to suppress methanogenesis with minimal adverse effect of feedstuff fermentation. SIGNIFICANCE AND IMPACT OF THE STUDY: It was established that methanogenesis was not essentially related to the density of protozoa population in vitro. The tannins contained in these plants could be of interest in the development of new additives in ruminant nutrition.

Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies. Puce d'hybridation génomique comparative et retard de développement : un outil diagnostic pour les neurologues. Le retard de développement survient chez 1 à 3% de la population et son étiologie est inconnue chez à peu près 50% des cas. L'évaluation génétique initiale pour un retard de développement incluait antérieurement une analyse chromosomique et une analyse par FISH (hybridation in situ en fluorescence) de régions subtélomériques. La puce d'hybridation génomique comparative (CGHa) est devenue un outil de détection des changements du nombre de copies géniques ainsi que de la disomie uniparentale et elle est le test le plus sensible pour fournir un diagnostic étiologique dans le retard de développement. Le CGHa permet d'offrir un pronostic et un risque de récurrence, améliore l'accès aux ressources, aide à limiter les évaluations et peut modifier le traitement médical dans bien des cas. Le CGHa a mené à la définition de nouveaux syndromes génétiques associés à un retard de développement. À titre d'exemple, nous décrivons le cas d'un homme âgé de 31 ans qui présentait un retard de développement global depuis longtemps et chez qui un syndrome associé à une délétion 4q21 a été diagnostiqué récemment, soit une délétion de 20,8 Mb. Le CGHa est maintenant recommandé comme test de première ligne chez les enfants et les adultes présentant un retard de développement et des anomalies congénitales.

Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

N-acetyl-glutamate synthase (NAGS) deficiency is a rare autosomal recessive urea cycle disorder (UCD) that uncommonly presents in adulthood. Adult presentations of UCDs include; confusional episodes, neuropsychiatric symptoms and encephalopathy. To date, there have been no detailed neurological descriptions of an adult onset presentation of NAGS deficiency. In this review we examine the clinical presentation and management of UCDs with an emphasis on NAGS deficiency. An illustrative case is provided. Plasma ammonia levels should be measured in all adult patients with unexplained encephalopathy, as treatment can be potentially life-saving. Availability of N-carbamylglutamate (NCG; carglumic acid) has made protein restriction largely unnecessary in treatment regimens currently employed. Genetic counselling remains an essential component of management of NAGS.