Lymphorrhea: An Unusual Complication of Jugular Venous Catheterization for Hemodialysis.

A considerable number of end-stage renal disease patients undergo tunneled cuffed catheter insertion for hemodialysis under ultrasonographic guidance while awaiting arteriovenous fistula creation. We report a case of a 62-year-old female who underwent tunneled catheter insertion in the left internal jugular vein under ultrasound and fluoroscopic guidance, which was followed by pericatheter serous discharge. Fluid examination confirmed the diagnosis of lymphorrhea, and lymphoscintigraphy facilitated its localization. This case is reported for its rarity and with a discussion on literature review, complications of lymphorrhea, and their management.

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

OBJECTIVE: To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS: 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS: Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had mutation in exon 3 and 27 % had mutation in exon 13. CONCLUSION: PTPN11 mutation accounts for 64.7% of cases with clinical features of Noonan syndrome in India. Majority of the mutations are in exon 3 and exon 13 of PTPN11, making them the hotspots in Indian population.

Chemical synthesis and supercapacitive properties of lanthanum telluride thin film.

Lanthanum telluride (La2Te3) thin films are synthesized via a successive ionic layer adsorption and reaction (SILAR) method. The crystal structure, surface morphology and surface wettability properties are investigated using X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FT-IR), Field emission scanning electron microscopy (FE-SEM) and contact angle goniometer techniques, respectively. The La2Te3 material exhibits a specific surface area of 51m2g-1 determined by Brunauer-Emmett-Teller (BET) method. La2Te3 thin film electrode has a hydrophilic surface which consists of interconnected pine leaf-like flaky arrays that affect the performance of the supercapacitor. The supercapacitive performance of La2Te3 film electrode is evaluated in 1M LiClO4/PC electrolyte using cyclic voltammetry, galvanostatic charge-discharge, and electrochemical impedance spectroscopy techniques. La2Te3 film electrode exhibits a specific capacitance of 194Fg-1 at a scan rate of 5mVs-1 and stored energy density of 60Whkg-1 with delivering power density of 7.22kWkg-1. La2Te3 film electrode showed capacitive retention of 82% over 1000cycles at a scan rate of 100mVs-1. Further, flexible La2Te3|LiClO4-PVA|La2Te3 supercapacitor cell is fabricated.

Chemically prepared La2Se3 nanocubes thin film for supercapacitor application.

Lanthanum selenide (La2Se3) nanocubes thin film is prepared via successive ionic layer adsorption and reaction (SILAR) method and utilized for energy storage application. The prepared La2Se3 thin film is characterized by X-ray diffraction, field emission scanning electron microscopy and contact angle measurement techniques for structural, surface morphological and wettability studies, respectively. Energy dispersive X-ray microanalysis (EDAX) is performed in order to obtain the elemental composition of the thin film. The La2Se3 film electrode shows a maximum specific capacitance of 363 F g(-1) in a 0.8 M LiClO4/PC electrolyte at a scan rate of 5 mV s(-1) within 1.3 V/SCE potential range. The specific capacitive retention of 83 % of La2Se3 film electrode is obtained over 1000 cyclic voltammetry cycles. The predominant performance, such as high energy (80 Wh kg(-1)) and power density (2.5 kW kg(-1)), indicates that La2Se3 film electrode facilitates fast ion diffusion during redox processes.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in sixty-eight unrelated Indian families. We identified 136 mutant alleles comprising of 40 different mutations. We report twenty-two novel mutations that comprise of seventeen missense (p.Asn32Thr, p.Leu36Arg, p.Pro52Leu, p.Pro77Ser, p.Cys79Arg, p.His142Pro, p.Tyr191Asp, p.Asn204Thr, p.Gly188Ser, p.Phe216Ser, p.Trp230Cys, p.Ala291Ser, p.Gly317Arg, p.His329Pro, p.Arg386Ser, p.Glu450Gly, p.Cys501Ser), three splice-site variants (c.120+1G>C, c.1003-3C>G, c.1139+1G>A), one nonsense mutation (p.Gln414*) and one frameshift mutation (p.Pro420Leufs*440). Eighteen mutations have been reported earlier. Among these p.Ser287Leu (8.82%), p.Phe216Ser (7.35%), p.Asn32Thr (6.61%) and p.Ala291Ser (5.88%) were the most frequent mutations in Indian patients but were rare in the mutational profiles reported in other populations. These results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations. Mutant alleles in exon 1, 7 and 8 accounted for 44.8% of the mutations, and sequencing of these exons initially may be a cost-effective approach in Asian Indian patients. This is the largest study on molecular analysis of patients with MPS IVA reported in the literature, and the first report from India.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. The genetic basis of LSS is currently unknown. LSS shows phenotypic overlap with Haas-type polysyndactyly (HTS) regarding the digital phenotype. Here we report on five unrelated families with overlapping microduplications encompassing the Sonic hedgehog (SHH) limb enhancer ZPA regulatory sequence (ZRS) on chromosome 7q36. Clinically, the patients show polysyndactyly phenotypes and various types of lower limb malformations ranging from syndactyly to mirror image polydactyly with duplications of the fibulae. We show that larger duplications of the ZRS region (>80 kb) are associated with HTS, whereas smaller duplications (<80 kb) result in the LSS phenotype. On the basis of our data, the latter can be clearly distinguished from HTS by the presence of mirror image polysyndactyly of the feet with duplication of the fibula. Our results expand the clinical phenotype of the ZRS-associated syndromes and suggest that smaller duplications (<80 kb) are associated with a more severe phenotype. In addition, we show that these small microduplications within the ZRS region are the underlying genetic cause of Laurin-Sandrow syndrome.

Biology of Chiloloba orientalis.

This study, related to emergence of the cetoniid beetle, Chiloloba orientalis D and R (Coleoptera: Scarabaeidae: Cetoniinae), was conducted annually from August to the middle of October from 2007 to 2010 in maize (Zea mays L. (Poales: Poaceae)), sorghum (Sorghum bicolor (L.) Moench), and grass (Hetropogon contortus (L.) P. Beauv. ex Roem. and Schult., Apluda mutica L.) cultivated fields in a selected plot of grassland in Kolhapur, Maharashtra, India. Adults of C. orientalis feed on the inflorescence of S. bicolor, Z. mays, H. contortus and A. mutica. The occurrence of adults in this study indicates that the emergence of beetles coincides with the flowering period of its host plants. The immature stages of this beetle feed on the decaying organic matter of crop residues in composting heaps, indicating these immature stages play a key role in the recycling of organic waste of plant and animal origin and help in the enrichment of soil nutrients, especially in the red brown soil where primary decomposers are scarce. This study provides detailed information on the morphological peculiarities of immature stages with the duration required for the completion of the life cycle. The average incubation period of eggs was 15.2 days. The first, second, and third instar lasted for 22.7, 54.3, and 46.6 days respectively. The mean pupal period was 14.7 days. The average adult longevity was 9.4 days.

Synthesis, in vitro and in vivo antifungal activity of 5-phenylthio-2,4-bisbenzyloxypyrimidine: a novel nucleobase.

A pyrimidne nucleobase, 5-phenylthio-2,4-bisbenzyloxypyrimidine and its analogs were synthesized and scanned for in vitro antifungal activity using cup-plate and macrobroth dilution method against Candida albicans, Aspergillus niger, Aspergillus flavus and Aspergllus fumigatus. In the cup-plate method, 5-phenylthio-2,4-bisbenzyloxypyrimidine showed very good antifungal activity compared to clotrimazole at the concentrations of 100 and 1000 µg/ml and in the macrobroth dilution method, it showed comparable activity with respect to standard drugs fluconazole and itraconaole. In vivo antifungal activity of 5-phenylthio-2,4-bisbenzyloxypyrimidine at the dose levels of 10 and 30 mg/kg was carried by causing systemic infection of mice using the same fungi used in in vitro testing. The results from in vivo studies with 5-phenylthio-2,4-bisbenzyloxypyrimidine and fluconazole indicated that 5-phenylthio-2,4-bisbenzyloxypyrimidine had similar potency as fluconazole at both dose levels.

Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

OBJECTIVE: Mutation analysis in Indian children with achondroplasia. METHODS: We studied 11 sporadic cases of achondroplasia. Mutation analysis was done by PCR/RFLP (Polymerase chain reaction/Restriction fragment length polymorphism) method. RESULTS: Nine of the 11 cases had mutation G-->A at 1138 nucleotide position in transmembrane domain of fibroblast growth-factor receptor 3 (FGFR3) gene. Substitution G-->A is a common recurrent mutation reported worldwide. In two cases we could not detect any common mutation and also in entire region of transmembrane domain sequenced. There is possibility of mutation in the other regions of FGFR3 gene in these two cases. CONCLUSION: Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.

Urorectal septum malformation sequence: ultrasound correlation with fetal examination.

OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. RESULTS: Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. CONCLUSION: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.

Scavenging of Ni(II) metal ions by adsorption on PAC and babhul bark.

The removal of toxic nickel metal ions by adsorption, using powder activated charcoal (PAC) and non-conventional adsorbent modified Indian powder babhul bark (PBB), was studied at room temperature. The adsorption isotherms were obtained in a batch reactor. It is observed that, the process of uptake followed first-order adsorption rate expression and obeyed Langmuir and Freundlich models of adsorption. Effects of variations in parameters such as pH, contact time, adsorbent dose, initial Ni(II) concentration and particle size were also studied.

Angiotensin converting enzyme gene polymorphism in Indian children with steroid sensitive nephrotic syndrome.

CONTEXT: Nephrotic syndrome is one of the commonest renal problem encountered in children. It is difficult to predict at onset, the clinical course in terms of steroid responsiveness or resistance. Angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been studied as a predictor of clinical course in common multi-factorial diseases including focal segmental glomerulosclerosis. There is no study available from our country till date to find out any correlation of the steroid response in idiopathic nephrotic syndrome and ACE gene polymorphism. AIM: To study distribution and correlation of ACE gene I/D polymorphism in idiopathic steroid sensitive nephrotic syndrome. SETTINGS & DESIGN: Case-control retrospective study. SUBJECTS & METHODS: We studied ACE gene polymorphism in 90 consecutive patients (82% males, 18% females) with steroid sensitive idiopathic nephrotic syndrome and 300 normal controls (NC). STATISTICAL ANALYSIS: Chi-square test and Fisher's exact test (for cases with insufficient expected cell frequencies). RESULTS: The mean age of onset was 5.3 +/- 4 years. Steroid sensitive (SS) patients showed II (SS-48%, NC-26%) genotype was more frequent than normal controls (p=0.002). There was no significant difference in genotype frequencies among steroid SS subgroups. CONCLUSIONS: In our study II genotype was more frequent in steroid sensitive nephrotic syndrome children in comparison to normal controls. Further functional studies with large number of children are required to investigate the role of II genotype in steroid sensitive nephrotic syndrome. Comparison of the genotypic frequency with steroid resistant patients may provide information, which might be useful in clinical practice.

Partial trisomy 13 with features similar to C syndrome.

We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential.

Genetic counseling: the impact in Indian milieu.

OBJECTIVE: To assess the impact of genetic counseling in Indian milieu. METHODS: A study of 83 Indian consultants who were provided genetic counseling was carried out to understand their expectations, satisfaction with genetic counseling and its effects on reproductive decision. RESULTS: Most of the families were referred for the diagnosis and the treatment of the disorder in the proband. The consultants understood the medical facts about risk of recurrence and were satisfied with genetic counseling. There was no change in reproductive plan after genetic counseling in most of the cases. CONCLUSION: The reproductive decision was mainly correlating with the presence or absence of normal live children in the family and availability of prenatal diagnosis.

Influence of legume blends on fried papad quality.

Legumes and their blends are widely used for the production of papads. Papads with low fat content would be a boon to populations looking for low-calorie foods with retention of organoleptic profile. Judicious blending of legumes such as black gram, green gram, bengal gram, red gram and cowpea revealed that low-fat fried papads could be prepared from a blend of 40:36:24 blend of bengal gram:black gram:green gram flours. The blend had 15.6% lower fat content as compared to the control prepared from black gram flour alone. Other quality parameters such as expansion ratio, texture in terms of crispness, colour and overall organoleptic quality were also evaluated.