Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring

Astrophysical S_{17}(0) factor from a measurement of d(7Be,8B)n reaction at E_{c.m.} = 4.5 MeV

Angular distribution measurements of $^2$H($^7$Be,$^7$Be)$^2$H and $^2$H($^7$Be,$^8$B)$n$ reactions at $E_{c.m.}\sim$~4.5 MeV were performed to extract the astrophysical $S_{17}(0)$ factor using the asymptotic normalization coefficient (ANC) method. For this purpose a pure, low emittance $^7$Be beam was separated from the primary $^7$Li beam by a recoil mass spectrometer operated in a novel mode. A beam stopper at 0$^{\circ}$ allowed the use of a higher $^7$Be beam intensity. Measurement of the elastic scattering in the entrance channel using kinematic coincidence, facilitated the determination of the optical model parameters needed for the analysis of the transfer data. The present measurement significantly reduces errors in the extracted $^7$Be(p,$\gamma$) cross section using the ANC method. We get $S_{17}$~(0)~=~20.7~$\pm$~2.4 eV~b.Comment: 15 pages including 3 eps figures, one figure removed and discussions updated. Version to appear in Physical Review

Evaporation residue cross-section measurements for O 16 + Tl 203,205

Evaporation residue cross sections for the 16O+203,205Tl reactions were measured at laboratory beam energies in the range of 82–113 MeV using a gas-filled separator. Transmission efficiency of the separator was estimated using a calibration reaction 16O+197Au and by simulating the evaporation residues angular distributions. Statistical model calculations were performed for both the measured systems. These calculations overestimate the experimental evaporation residue cross sections. This could be attributed to the presence of noncompound nuclear fission. An estimation of noncompound nuclear fission contribution was carried out. Comparison with neighboring systems shows that a slight change in the entrance channel or the compound nucleus properties makes a large difference in evaporation residue cross sections

Appraisal of the Marine Fisheries of Maharashtra

Maharashtra with a coast line of 720 km ranks second among the maritime states of India in respect of marine fish landings. There are 153 landing centres situated in the five coastal districts namely, Thane, Greater Bombay, Raigad, Ratnagiri and Sindhudurg. The state, which has a continental shelf of 89,096 square kilometers, offers rich potential for marine fisheries. The areas of potential fishing grounds in 0-50 m depth and 50-200 m depth are 2.55 and 10.48 million hectares respectively. Fishing takes places almost throughout the year except during the monsoon period. Several types of boats, mechanised and nonmechanised, using different gears land their catches. The exploited marine fish landings in the state are estimated by a well-planned multi-stage startified sampling design followed by the Central Marine Fisheries Research Institute. Bombay duck, non-penaeid prawns, penaeid prawns, croakers, pomfrets, elasmobranchs, perches and ribbonfishes are some of the commercially important groups which form the bulk of landings. From the early sixties the marine fish landings in the state have been steadily progressing mainly owing to the increase in the mechanised fishing. This increase continued up to midseventies and thereafter the landings have more or less stabilised

The resources of hilsa shad, Hilsa ilisha (Hamilton), along the northeast coast of India

The results of 4study on the fishery, biology, exploitation and mortality of hilsa shad (Hi1.w ilishu) are presented. The average annual landing of Hilsa ilisha for 1979 -88 was 57 10 tomes forming 0.4% of the total landings. The major craft and gears and [he contributions of different states arepresented. Age at first maturity was estimated as 1.98 yem. The details of spawning migrations, maturity stages and fecundity mdiscussed. Thetotal mortality, natural mortality and fishingmortality coefficients wereob,tainedas 1.71,0.704 and 0.9444 respectively. The present yield of4 168tonnes wasthe sameas theestimated MSY indicating theoptimum level of exploitation

Citostatsko i protuupalno djelovanje polisaharida biljke Ganoderma lucidum

In this study, polysaccharides were isolated from Ganoderma lucidum (Polyporaceae) and their antitumor and anti-inflammatory activities were investigated using in vivo models. Potential antitumor activity was shown by G. lucidum polysaccharides (GLP) against solid tumor induced by Ehrlich’s ascites carcinoma cells. GLP at 100 mg kg–1 body mass showed 80.8 and 77.6 % reduction in tumour volume and tumour mass, respectively, when administered 24 h after tumour implantation. Again, GLP at the same dose but when administered prior to tumour inoculation, showed 79.5 and 81.2 % inhibition of tumour volume and tumour mass, respectively. GLP showed significant dose-dependent activity in carrageenean-induced (acute) and formalin-induced (chronic) inflammation assays. At 100 mg kg–1, GLP exhibited 57.6 and 58.2 % inhibition in carrageenean-induced and formalin-induced assays, respectively.U radu je ispitano in vivo citostatsko i protuupalno djelovanje polisaharida (GLP) izoliranih iz biljke Ganoderma lucidum (Polyporaceae). Ispitivani polisaharidi pokazali su potencijalno antitumorsko djelovanje na Ehrlichov ascitesni tumor. GLP su u dozi od 100 mg kg1 tjelesne mase inhibirali volumen tumora za 80,8, a njegovu masu za 77,6 %, kada su primijenjeni 24 h nakon implantacije tumora. Ako se GLP daju u istoj dozi prije inokulacije tumora, inhibiraju volumen tumora za 79,5, a njegovu masu za 81,2 %. GLP pokazuju značajno, o dozi ovisno, protuupalno djelovanje u karagenan testu (akutna upala) i formalin testu (kronična upala). U dozi od 100 mg kg1, GLP inhibiraju upalne procese za 57,6 odnosno 58,2 % u testu s karagenanom, odnosno formalinom

Citostatsko i protuupalno djelovanje polisaharida biljke Ganoderma lucidum

In this study, polysaccharides were isolated from Ganoderma lucidum (Polyporaceae) and their antitumor and anti-inflammatory activities were investigated using in vivo models. Potential antitumor activity was shown by G. lucidum polysaccharides (GLP) against solid tumor induced by Ehrlich’s ascites carcinoma cells. GLP at 100 mg kg–1 body mass showed 80.8 and 77.6 % reduction in tumour volume and tumour mass, respectively, when administered 24 h after tumour implantation. Again, GLP at the same dose but when administered prior to tumour inoculation, showed 79.5 and 81.2 % inhibition of tumour volume and tumour mass, respectively. GLP showed significant dose-dependent activity in carrageenean-induced (acute) and formalin-induced (chronic) inflammation assays. At 100 mg kg–1, GLP exhibited 57.6 and 58.2 % inhibition in carrageenean-induced and formalin-induced assays, respectively.U radu je ispitano in vivo citostatsko i protuupalno djelovanje polisaharida (GLP) izoliranih iz biljke Ganoderma lucidum (Polyporaceae). Ispitivani polisaharidi pokazali su potencijalno antitumorsko djelovanje na Ehrlichov ascitesni tumor. GLP su u dozi od 100 mg kg1 tjelesne mase inhibirali volumen tumora za 80,8, a njegovu masu za 77,6 %, kada su primijenjeni 24 h nakon implantacije tumora. Ako se GLP daju u istoj dozi prije inokulacije tumora, inhibiraju volumen tumora za 79,5, a njegovu masu za 81,2 %. GLP pokazuju značajno, o dozi ovisno, protuupalno djelovanje u karagenan testu (akutna upala) i formalin testu (kronična upala). U dozi od 100 mg kg1, GLP inhibiraju upalne procese za 57,6 odnosno 58,2 % u testu s karagenanom, odnosno formalinom

Epidemiology, baseline characteristics and risk of progression in the first South-Asian prospective longitudinal observational IgA nephropathy cohort

Introduction: Glomerular Research And Clinical Experiments-IgA Nephropathy in Indians (GRACE-IgANI) is the first prospective South Asian IgAN cohort with protocolized follow-up and extensive biosample collection. Here we report the baseline clinical, biochemical, and histopathologic characteristics of GRACE IgANI and calculate baseline risk of progression for the cohort. Methods: 201 incident adults with kidney biopsy-proven primary IgAN were recruited into GRACE-IgANI between March 2015 and September 2017. As of April 30, 2020, the cohort had completed a median followup of 30 months (interquartile range [IQR] 16-39). Results: The commonest clinical presentation in GRACE IgANI was hypertension, with or without proteinuria, and nephrotic-range proteinuria was present in 34%, despite Conclusions: The predicted risk of progression in this cohort was considerable. Over the next 5 years, we will dissect the pathogenic pathways that underlie this severe South Asian IgAN phenotype

Three-Year Clinical Outcomes of the First South Asian Prospective Longitudinal Observational IgA Nephropathy Cohort

INTRODUCTION: Glomerular Research And Clinical Experiments—IgA Nephropathy in Indians (GRACE-IgANI) is the first prospective South Asian IgA nephropathy (IgAN) cohort with prespecified objectives, protocolized longitudinal follow-up, and extensive biosample collection. The baseline risk scores predicted high risk of kidney disease progression. METHODS: A total of 195 of 201 patients (97%) completed 3-year follow-up in September 2020. All patients received optimized supportive care, and those at high risk of progression were offered systemic corticosteroids. RESULTS: A total of 76 patients (76 of 193, 39.4%) had rapid progression in 3 years (≥5 ml/min per 1.73 m(2) decline in estimated glomerular filtration rate [eGFR] per year). A total of 72 patients (72 of 195, 36.9%) experienced the composite outcome (CO), defined as ≥50% fall in eGFR, eGFR < 15 ml/min per 1.73 m(2), commenced kidney replacement therapy or death, in 3 years. At each scheduled follow-up, achievement of proteinuria level < 1 g/d significantly delayed the time to the CO. The receiver operating characteristic curve of average annual decline in eGFR ≥ 5 ml/min per 1.73 m(2) had 86% sensitivity and 89% specificity for CO in 3 years and had good discrimination from 1 year onwards (area under the curve 0.8, SE 0.04, 95% CI 0.7–0.9, P < 0.0001). The significant predictors of CO by Cox proportional-hazards model were as follows: baseline MEST-T2 score (hazard ratio [HR] 3.3, 95% CI 1.7–6.5, P < 0.001), along with 24-hour urine protein level ≥ 1 g/d (HR 2.1, 95% CI 1.1–3.9, P = 0.02), eGFR < 60 ml/min per 1.73 m(2) (HR 2.9, 95% CI 1.1–7.6, P = 0.03), and rate of eGFR decline ≥ 5 ml/min per 1.73 m(2)/yr (HR 2.7, 95% CI 1.6–4.8, P < 0.001) all measured at 6 months. Mortality was 11 of 195 (5.6%). CONCLUSION: We identified longitudinal clinical variables measured at 6 months and ≥5 ml/min per 1.73 m(2) annual fall in eGFR after kidney biopsy as important predictors for composite outcome in addition to baseline histology