Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most common cause of autosomal recessive primary microcephaly in the majority of the reported families. In the current investigation, we have located and studied 21 families with autosomal recessive primary microcephaly. Genotyping using polymorphic microsatellite markers linked to 7 autosomal recessive primary microcephaly loci revealed linkage of 18 families to the MCPH5 locus. Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C>T/p.Q701X; c.9492T>G/p.Y3164X) in 2 families and 2 novel deletion mutations (c.6686delGAAA/p.R2229TfsX9; c.77delG/p.G26AfsX41) in 2 other families. Three previously described mutations (c.3978G>A/p.W1326X; c.1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly.
Background: Acute kidney injury (AKI) is known to complicate one-third of cases in pediatric intensive care units (PICU), and almost one-fourth of these are due to nephrotoxic drugs (NTDs). Although stopping NTDs seems the most obvious option, it is not practically applicable. Many NTDs are the only existing option, and their potential benefits outweigh the risk of drug-induced AKI.
Objectives: To assess the proportion of children receiving NTDs in the PICU and highlight the children who developed AKI.
Methods: A prospective observational study was conducted in the PICU of the National Institute of Child Health, Karachi. All children admitted to the PICU for at least 72 hours not diagnosed with any acute or chronic kidney disease were included. Serum creatinine (SCr) was done at admission and then after 72 hours. Data was entered and analyzed using IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 22.0. Armonk, NY: IBM Corp.
Results: Of 99 children, 53 (53.5%) were male. NTD exposure was positive in 97 (97.9%), and 72 (72.7%) had high exposure (≥3 NTDs). Drug-induced AKI was diagnosed in 46 (46.5%). It was significantly related to high SCr even at admission and high NTDs exposure. The mortality rate in the AKI group was 17% compared to 4% in the non-AKI (p=0.02).
Conclusion: Almost half of all PICU admissions were infants. Almost all patients were exposed to NTDs, and three-fourth experienced high exposure. AKI developed in 46% of patients and may be predicted by raised creatinine at the time of admission. Children exposed to ≥3 NTDs had a higher chance of drug-induced AKI.
Climate is the average of weather situation in a particular area, which affects all parts of ecosystem. Due to industrialization and urbanization, forests are cutting down and converted into living societies. This change in ecosystem disturbs the balance of ecosystem from decomposers to producers and consumers. Important part of ecosystem is plants (producers) that are energy providers. This alteration affects productivity and sustainability of plants. Wheat is staple food, which is highly affected by temperature and CO2 elevation. It not only affects wheat yield but also make wheat vulnerable to several diseases. High temperature causes a high rate of transpiration, which causes drought that ultimately leads to low productivity. A model was designed on drought conditions and result showed that global warming causes serious drought in 60% of wheat-growing areas of the world. Currently, drought affects 15% of wheat productivity. It was predicted that every 2°C shift of temperature can cause severe water shortage in the coming 20 to 30 years. Water shortage at milking and grain filling stage will affect yield. This chapter includes factors affecting climate, impact on wheat growth, yield, and elevation of carbon dioxide, impact on disease severity, prediction model for temperature rise, and CO2 curve in 2050.
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