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Summary: A 5‐year‐old boy presented with generalized cutaneous erosions, severe scarring, depigmentation and contractures affecting major joints. The lesions had initially affected his ears, nose, feet, and the genital and ocular mucosa, leading to significant depigmentation, scarring, contractures and mutilation. The whole of the trunk and limbs were involved at the time of presentation, with the exception of some islands of spared skin on the proximal thighs, legs, nipples and external genitalia. Electron microscopy revealed a split in the sublamina densa with the absence of anchoring fibrils, suggestive of dystrophic epidermolysis bullosa (EB). Immunofluorescence antigen mapping demonstrated a broad reticulate pattern of staining with collagen IV, VII, and laminin 332 in the floor of the blister, suggestive of Kindler syndrome. Next‐generation sequencing revealed a de novo heterozygous missense mutation (a variant of unknown significance) in exon 22 of the phospholipase‐C gamma 2 gene (PLCG2), which resulted in a substitution of serine by asparagine at codon 798 (p.Asp798Ser), a result that was validated using Sanger sequencing. The child was diagnosed with PLCG2‐associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2‐associated antibody deficiency and immune dysregulation (APLAID) syndrome. The cutaneous and corneal erosions, inflammation and scarring of this magnitude, and the eventual result of death have not been described previously for the PLAID/APLAID spectrum previously. In conclusion, this was an unusual acquired autoinflammatory severe EB‐like disease that may be associated with de novo PLCG2 mutation. Click here for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

The current investigation was conducted to study the fractions of sulphur in nine districts of low and mid hills of Himachal Pradesh. For this purpose 31 representative soil sampling sites were selected from nine districts and the soil samples were analyzed for physicochemical properties and different fractions of sulphur (water soluble sulphur, exchangeable sulphur, available sulphur, non-sulphate sulphur, organic sulphur and total sulphur). The results indicated that the total sulphur in soils varied from 98.2 to 470.1 mg kg-1 in surface soil (0-15 cm) and 67.2 to 370.7 mg kg-1 in subsurface layer (15-60 cm). The organic sulphur varied from 80.5 to 401.1 mg kg-1 in surface and 44 to 306.1 mg kg-1 in subsurface layer. The water soluble sulphur, exchangeable sulphur, available sulphur and non-sulphate sulphur varied from 1.7 to 9.2, 2.7 to 18.4, 4.5 to 27.6 and 10.2 to 58.9 mg kg-1 respectively in surface soil and 0.5 to 5.4, 1 to 17.7, 3.7 to 23.5 and 12.5 to 50.2 mg kg-1, respectively in sub-surface soil. It was observed during course of study that with increase in the soil depth the content of different fractions of sulphur decreased. These soils had the major part of their total sulphur content in organic form followed by non-sulphate sulphur, available sulphur, exchangeable sulphur and water soluble sulphur. It can be concluded that the soil texture and organic carbon content played a major role in determining the quantity of different fractions of sulphur in these soils. [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is an autoimmune disorder that can affect virtually any organ. Chylous ascites as a presenting manifestation of SLE has been described in a handful of cases in adults. However, to the best of our knowledge this presentation has never been reported in the pediatric age group. Podocytopathy in SLE was initially considered to be a chance association. However, more recently it has been suggested that minimal change disease is not only a chance association; it is part of the lupus nephritis spectrum. [ABSTRACT FROM AUTHOR]

Presents a study which investigated the effect on the superconducting and microstructural properties of YBa[sub2]Cu[sub3]O[sub7-x] screen printed thick films as a function of silver content. Experimental details; Results and discussion; Conclusion.

The ocular system can be affected in systemic lupus erythematosus (SLE) in one third of patients. However, optic nerve involvement is relatively uncommon, but is more so in pediatric SLE patients, where it can occur in 1% of cases. We report three children with SLE who presented with optic nerve involvement. Two children had optic neuritis, with optic neuritis being the first manifestation in one child. The third child had ischaemic optic neuropathy secondary to antiphospholipid syndrome. A careful work up for SLE should be performed in every child with optic nerve disease. Prompt diagnosis and early treatment results in a better prognosis. [ABSTRACT FROM AUTHOR]

The article discusses the clinical outcomes of childhood lupus nephritis in developing countries. It examines the actuarial survival and actuarial renal survival of children with lupus nephritis using Kaplan-Meier analysis. It notes that outcome of children with lupus nephritis from India is worse than developed countries.

Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract ( PPT) deletion and 11 missense mutations. Eleven mutations were exclusive to the Indian population. The IVS6+ 4A>G splice and IVS5-16delTTTTC PPT deletion mutations resulted in skipping of exon 6 precluding thereby the region responsible for cleavage of enzyme precursor. A missense mutation (p. V198A) resulted in skipping of exon 8 due to inactivation of an exonic splicing enhancer ( ESE) element. This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD. [ABSTRACT FROM AUTHOR]

Percutaneous renal biopsy (PRB) is an important diagnostic tool in pediatric nephrology units. But controversy exists whether the procedure can be done in the day care setting. This study was done to document complications of PRB done with automated gun under continuous ultrasonographic guidance and to find whether the procedure can be undertaken as a day care procedure. Retrospective analysis of 67 PRBs is presented. A total of 44% (n = 30) minor and 12% (n = 8) major complications such as gross hematuria, perinephric hematoma, and hemodynamic instability were observed through the study period. All major and 90% of minor complications were detected within four hours in the current study. The procedure may be undertaken in the day care setting with strict pre and postprocedure monitoring up to eight hours in children with normal blood pressures, renal functions, hemoglobin concentrations, and coagulation parameters. [ABSTRACT FROM AUTHOR]

Proposes a homotopy algorithms for solving polynomial equations in mechanism design. Applications of polynomial systems; Details on homotopy method; Equation for path reduction using secant homotopy and side conditions.

Background: The Patient Self-Determination Act of 1991 requires that nursing homes reimbursed by Medicare or Medicaid inform all residents upon admission of their rights to enact care directives in the event of terminal illness. This study investigated the relationship between care directive use and resident functional status.Methods: We analyzed a version of the Minimum Data Set (MDS+) from a single state. We selected residents who were admitted to a nursing home in the first half of 1993 and followed them in the nursing home through the end of 1994. We created logistic models to examine independent correlates associated with having an advance directive or a do-not-resuscitate (DNR) order on admission. We then created similar logistic models to examine independent correlates associated with writing an advance directive or DNR order subsequent to admission.Results: Of the 2,780 residents, 11% (292) had advance directives and 17% (466) had DNR orders upon admission. Of those without care directives upon admission, 6% (143) subsequently had an advance directive and 15% (339) subsequently had a DNR order. Cross-sectionally, older individuals and whites were more likely to have a care directive. Having poor cognitive and physical function was associated with having a DNR order upon admission. Longitudinally, longer stayers and whites were more likely to have an advance directive. Residents who lost physical function were more likely to have an advance directive and those who lost cognitive function were more likely to have a DNR order.Conclusions: Care directive use is influenced by a number of sociodemographic and functional characteristics. [ABSTRACT FROM AUTHOR]

A ferrofluid consisting of colloidally dispersed magnetite particles in water was found to be an efficient selective catalyst for water gas shift reaction at 15-25 atmosphere of CO pressure in the temperature range of 423-553 K where the products obtained were only CO and H. The reaction was studied as a function of variation of the concentration of catalyst, pressure of CO gas and temperature. Kinetic parameters suggested a mechanism involving first order dependence in CO and catalyst concentrations. [ABSTRACT FROM AUTHOR]

Hypernatremic dehydration in breast fed neonates is a rare but increasingly recognized problem. If not identified early, it may lead to potentially life threatening complications. The authors describe a neonate who developed thrombosis and lower limb ischemia secondary to hypernatremic dehydration. Peripheral gangrene, as a result of hypernatremic dehydration is extremely uncommon and has rarely been reported before. [ABSTRACT FROM AUTHOR]