Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis

We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.     

Reactive haemophagocytic lymphohistiocytosis

We present a series of five cases diagnosed and treated as reactive haemophagocytic lymphohistiocytosis (HLH) in three tertiary referral centers of Kolkata, within a time frame of 3 months. The initial presentations were very variable, the most prominent clinical feature being — acute renal failure in the first patient, convulsions in the second, encephalopathy the third, marked cervical lymphadenopathy in the fourth and polyserositis in the fifth. All had a history of prolonged fever preceding admission and hepatosplenomegaly on examination. Investigations revealed multi-organ involvement with pancytopenia;- haemophagocytosis was eventually diagnosed by bone marrow examination. These cases highlight the diagnostic challenge posed by infection associated haemophagocytosis and the need for maintaining a high index of suspicion to promptly diagnose and treat this potentially life threatening condition.     

Alteration of blood pressure among the donors in a blood donation camp

Anxiety can alter the cardiovascular parameters. In the present study, among the normotensive donors, the effect of anxiety on alteration of blood pressure and heart rate was assessed. Blood pressure and pulse rate were recorded in the volunteers just before blood donation and the results were compared with the blood pressure and heart rate recorded previously (one week before the camp) in the same population. There was a rise of both systolic and diastolic blood pressure with a significant increase in pulse rate just before blood donation. As the donors had previous experience of blood donation; the mental stress just before blood donation can be regarded as known stress -- which caused increase in norepinephrine secretion leading to peripheral vasoconstrictions and rise in diastolic blood pressure. Anxiety through sympathetic stimulation increased the heart rate, cardiac output and systolic blood pressure.     

Dimensionality reduced plug and play priors for improving photoacoustic tomographic imaging with limited noisy data

The reconstruction methods for solving the ill-posed inverse problem of photoacoustic tomography with limited noisy data are iterative in nature to provide accurate solutions. These methods performance is highly affected by the noise level in the photoacoustic data. A singular value decomposition (SVD) based plug and play priors method for solving photoacoustic inverse problem was proposed in this work to provide robustness to noise in the data. The method was shown to be superior as compared to total variation regularization, basis pursuit deconvolution and Lanczos Tikhonov based regularization and provided improved performance in case of noisy data. The numerical and experimental cases show that the improvement can be as high as 8.1 dB in signal to noise ratio of the reconstructed image and 67.98% in root mean square error in comparison to the state of the art methods.     

Heat Treatments of Metastable β Titanium Alloy Ti-24Nb-4Zr-8Sn Processed by Laser Powder Bed Fusion

Titanium alloys, especially β alloys, are favorable as implant materials due to their promising combination of low Young’s modulus, high strength, corrosion resistance, and biocompatibility. In particular, the low Young’s moduli reduce the risk of stress shielding and implant loosening. The processing of Ti-24Nb-4Zr-8Sn through laser powder bed fusion is presented. The specimens were heat-treated, and the microstructure was investigated using X-ray diffraction, scanning electron microscopy, and transmission electron microscopy. The mechanical properties were determined by hardness and tensile tests. The microstructures reveal a mainly β microstructure with α″ formation for high cooling rates and α precipitates after moderate cooling rates or aging. The as-built and α″ phase containing conditions exhibit a hardness around 225 HV5, yield strengths (YS) from 340 to 490 MPa, ultimate tensile strengths (UTS) around 706 MPa, fracture elongations around 20%, and Young’s moduli about 50 GPa. The α precipitates containing conditions reveal a hardness around 297 HV5, YS around 812 MPa, UTS from 871 to 931 MPa, fracture elongations around 12%, and Young’s moduli about 75 GPa. Ti-24Nb-4Zr-8Sn exhibits, depending on the heat treatment, promising properties regarding the material behavior and the opportunity to tailor the mechanical performance as a low modulus, high strength implant material.     

Nager acrofacial dysostosis: An unusual association with both upper and lower eyelid colobomas

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio-facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.     

Assessment of Water Status in Wheat (<Emphasis Type="Italic">Triticum aestivum</Emphasis> L.) Using Ground Based Hyperspectral Reflectance

Field experiments were conducted with four levels of irrigation and nitrogen on wheat for 2 years (2009–2010 and 2010–2011) to quantify and predict the crop water status using hyperspectral remote sensing. Hyperspectral reflectance in 350–2500 nm range was recorded at five growth stages. Based on highest correlation between relative leaf water content (RLWC) and reflectance in five water bands, the booting stage was identified as the most suitable stage for water stress evaluation. Ten hyperspectral water indices were calculated using the first year booting stage reflectance data and prediction models for RLWC and equivalent water thickness (EWT) based on these ten indices were developed. The prediction models for RLWC based on moisture stress index (MSI), normalized difference infrared index (NDII), normalized difference water index₁₆₄₀ (NDWI₁₆₄₀) and normalized multi-band drought index (NMDI) were identified as the most precise and accurate models as indicated by different validation statistics. The models developed for EWT based on water band index (WBI), MSI, NDWI₁₆₄₀ and NMDI were found to be most suitable and accurate. These indices were found to be insensitive to N stress treatments indicating their ability to detect water deficiency as the cause of plant stress. Thus, the study identified four hyperspectral water indices to assess the wheat crop water status at booting stage and developed their respective predictive models.     

Larval habitats and species composition of mosquitoes in Darjeeling Himalayas, India

BACKGROUND & OBJECTIVES: A preliminary survey of larval mosquito habitats and temporal variation in mosquito diversity in the hill town of Darjeeling, India was made during 2003, for a qualitative and quantitative assessment of mosquito distribution. METHODS: The possible larval habitats of mosquitoes were surveyed and the species diversity in the sites positive for mosquito larvae was noted. Bi-weekly sampling from a particular habitat was carried out to reveal the temporal variation in mosquito species. RESULTS: A good number of lentic aquatic habitats were found to be hosting mosquito immatures, though difference in the physical and biological features of these habitats was prominent. Altogether, immatures of six mosquito species, belonging to four genera--Aedes, Armigeres, Culex and Toxorhynchites were noted with significant difference in temporal variation in their relative and absolute numbers. A positive correlation (r = + 0.707) was found between population of the prey mosquito immatures and the population of immatures of Tx. splendens. The species diversity index (H') for the mosquitoes remained between 0.87 and 1.53. The evenness components ranged between 54.03 and 95.03% and differed significantly. INTERPRETATION & CONCLUSION: In the present study, the aquatic bodies could be categorised into six types depending on the size and structural complexity that may account for the observed variation in the species composition of the larval habitats. In addition to this, other factors like temperature, rainfall and other related climatic attributes may be responsible for the observed species variation, which needs to be confirmed through further studies.     

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) manifests with generalized scaling often associated with generalized erythema. Mutations in at least 13 different genes have been reported to cause ARCI. Acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder manifesting with peeling over the distal limbs and dorsal surfaces of hands and feet. APSS is mostly due to mutations in TGM5, encoding transglutaminase 5. Both ARCI and APSS are fully penetrant genetic traits. Here, we describe a consanguineous family in which one patient with mild ARCI was found to carry a homozygous mutation in ALOXE3 (c.1238G > A; p.Gly413Asp). The patient was also found to carry a known pathogenic homozygous mutation in TGM5 (c.1335G > C; p.Lys445Asn) but did not display acral peeling skin. Her uncle carried the same homozygous mutation in TGM5 but carried the ALOXE3 mutation in a heterozygous state and showed clinical features typical of APSS. Taken collectively, these observations suggested that the ALOXE3 mutation suppresses the clinical expression of the TGM5 variant. We hypothesized that ALOXE3 deficiency may affect the expression of a protein capable of compensating for the lack of TGM5 expression. Downregulation of ALOXE3 in primary human keratinocytes resulted in increased levels of corneodesmosin, which plays a critical role in the maintenance of cell-cell adhesion in the upper epidermal layers. Accordingly, ectopic corneodesmosin expression rescued the cell-cell adhesion defect caused by TGM5 deficiency in keratinocytes as ascertained by the dispase dissociation assay. The present data thus provide evidence for phenotypic suppression in a human hereditary skin disorder.