Impact of core polarity on smectic B-induced hydrogen bond liquid crystals.

The novel series of hydrogen bond liquid crystals were synthesized from the 2-methylglutaric acid (MGA) and 4-alkyloxybenzoic acid (nOBA) compounds. The induced smectic B phase with different texture (spine texture, needle texture, mosaic texture, natural mosaic texture and marble texture) were identified by polarizing optical microscope. Due to breaking of in-plane rotational symmetry within molecular layers, smectic B phase is tempted by suppressing other usual mesophases. The mesomorphic transition temperature, enthalpy and entropy values were calculated by differential scanning calorimeter which strongly proves the existence of mesomorphism. H-bond interaction and functional groups were confirmed by the observed peak between 2910 and 2954 cm-1 in the FTIR spectra. Thermal stability and extended mesophase width (for MGA + 12OBA = 31.1) of Sm B mesophase were reported and it clearly reveals the existence of mono-phase variance in the MGA + nOBA HBLC complex. Due to the steric effect, and the increased molecular core polarity, the highly stabilized Sm B phase with different textures were observed while varying alkyloxy carbon number n = 7 to 12. Further, the origination of Sm B phase and its detailed characteristics were reported.

A 6-year-old boy with Wilson disease-A diagnostic dilemma.

A 6-year-old boy presented with 2 months history of progressive abdominal distension and jaundice. He was deeply icteric with ascites, hepatosplenomegaly, hyperbilirubinemia, raised transaminases, and coagulopathy. Viral markers and slit lamp examination for Kayser-Fleischer ring were negative. Serum ceruloplasmin and 24-h urinary copper post-D-pencillamine challenge were normal. Anti-smooth muscle antibody was positive 1:20, and liver biopsy showed micronodular cirrhosis with abundant Mallory hyaline and stainable copper deposits. The liver histology was indicative of Indian childhood cirrhosis, whereas the presence of autoantibodies, elevated transaminases, and increased globulin was suggestive of autoimmune hepatitis. Gene studies identified p.R969Q mutation in ATP7B gene, which solved the dilemma and confirmed the diagnosis of Wilson disease (WD). We report a clinicopathological conference of this boy to highlight the challenges faced by pediatricians in the diagnosis of Wilson disease. ᅟ.

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.

AIMS: Recessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. A recent report described two cousins with a homozygous hypomorphic PDX1 mutation causing permanent neonatal diabetes with subclinical exocrine insufficiency. The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with permanent neonatal diabetes and no reported pancreatic hypoplasia or exocrine insufficiency. METHODS: PDX1 was sequenced in 103 probands with isolated permanent neonatal diabetes in whom ABCC8, KCNJ11 and INS mutations had been excluded. RESULTS: Sequencing analysis identified biallelic PDX1 mutations in three of the 103 probands with permanent neonatal diabetes (2.9%). One proband and his affected brother were compound heterozygotes for a frameshift and a novel missense mutation (p.A34fsX191; c.98dupC and p.P87L; c.260C>T). The other two probands were homozygous for novel PDX1 missense mutations (p.A152G; c.455C>G and p.R176Q; c.527G>A). Both mutations affect highly conserved residues located within the homeobox domain. None of the four cases showed any evidence of exocrine pancreatic insufficiency, either clinically, or, where data were available, biochemically. In addition a heterozygous nonsense mutation (p.C18X; c.54C>A) was identified in a fourth case. CONCLUSIONS: This study demonstrates that recessive PDX1 mutations are a rare but important cause of isolated permanent neonatal diabetes in patients without pancreatic hypoplasia/agenesis. Inclusion of the PDX1 gene in mutation screening for permanent neonatal diabetes is recommended as a genetic diagnosis reveals the mode of inheritance, allows accurate estimation of recurrence risks and confirms the requirement for insulin treatment.

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.

Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM 147920) is a multiple malformation/mental retardation syndrome of unknown etiology. A conventional cytogenetic study on lymphocytes from a 4-year-old girl with physical features suggestive of KS was found to have mosaicism for isochromosome for the long arm of the X. Although most manifestations present in this patient have been described before, this report is a rare association of clinical and cytogenetic findings in this syndrome. A genome-wide analysis and a larger number of patient groups studied could improve our understanding of the genetic basis of KS.

Correlation of renal length with somatic variables in Indian children.

Mean kidney length in 230 Indian children without apparent renal disease were examined sonographically and correlated with, age, body weight, length/height, upper thigh (femur) length, head circumference and chest circumference. Mean kidney is length best correlated with height, followed by upper thigh (femur) length and chest circumference.

Immunogenicity and safety of live attenuated hepatitis A vaccine: a multicentric study.

OBJECTIVE: To evaluate immunogenicity and tolerability of single dose live attenuated injectable hepatitis A vaccine in four metropolitan cities of India. METHODS: Live attenuated hepatitis A vaccine was administered to 505 children aged 18 to 60 months in four centers across India. Immunogenicity of the vaccine was assessed by estimation of anti-HAV antibody titer at 6 weeks and 6 months following administration of the vaccine. Safety evaluation of the vaccine was also done during the visits. RESULTS: At 6 weeks, 480 subjects (95%) came for the follow-up and 411 (81.4%) subjects reported at the end of 6 months. The geometric mean titer (GMT) of anti-HAV antibody of the subjects who did not have the seroprotective titer at the baseline were assessed at 6 weeks and 6 months which was 81.04 mIU/ml and 150.66 mIU/ml respectively. At 6 weeks, 95.1 % seroconverted and at the end of 6 months, 97.9 % had seroconverted. Both solicited and unsolicited vaccine-induced local and systemic adverse events were insignificant at all the centers, except swelling and induration in a few. CONCLUSION: Live attenuated injectable hepatitis A vaccine was immunogenic and tolerable with minimal reactogenecity, in this study of single dose schedule. Safety profile was also satisfactory in the study population.

Rhinocerebral mucormycosis in an adolescent with type 1 diabetes mellitus: case report.

Rhinocerebral mucormycosis is a severe opportunistic infection affecting immunocompromised patients. A 14-year-old boy with rhino-orbito-cerebral mucormycosis and type 1 diabetes is described. He responded well to amphotericin B lipid complex followed by itraconazole.

Polyarteritis nodosa with renal artery stenosis.

Renal angiographic signs in Polyarteritis Nodosa (PAN) vary from aneursyms of medium and small vessels, perfusion defects and delayed emptying of renal arteries. These vascular changes are usually responsible for the hypertension. In this case study stenosis of a main renal artery, an unusual finding in classical PAN, is believed to be the cause of hypertension. Hence renal angiography is essential to define the renal vascular changes and confirm the cause of hypertension.