Statins role in preventing contrast-induced acute kidney injury: a scoping review.

BACKGROUND: Acute renal failure secondary to contrast-induced acute kidney injury (CI-AKI) is one of the most commonly encountered problems in hospitalised patients. The CI-AKI may lead to the development of persistent renal disease, causing significant morbidity and mortality in high-risk patients. Statins are increasingly recognised as effective in preventing CI-AKI. In this review, we reviewed the literature on statin use for prophylaxis of CI-AKI, its potential benefits, and adverse effects. The aim of the present review was to reveal gaps and discrepancies in the available literature, and to identify areas for future research. METHODS: We searched PubMed for articles published up to 2018, using keywords including: "Statins AND contrast-induced kidney injury", "3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitors AND contras-induced kidney injury", and "HMG-CoA reductase inhibitors AND contrast induced nephropathy". RESULTS: Various trials and reviews have yielded promising results in terms of statin efficacy. However, conflicting results and a lack of homogeneity in the protocols of these trials have limited the applicability of statin-based therapy in clinical practice. Despite the reported beneficial therapeutic effects of short-term high-dosage statin use in preventing CI-AKI, statin therapy is not yet the standard prophylactic regimen due to widespread heterogeneity in the clinical trials. CONCLUSION: Statin therapy can be used as an adjunct to usual prophylactic measures such as adequate hydration and use of low-volume contrast media. Large well-designed trials on the effects of short-term high-dose statin use in preventing CI-AKI should be conducted, to eliminate any form of discrepancy among results, and to clarify any potential adverse effects.

Genetic heterogeneity in Pakistani microcephaly families.

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational spectra, we have analyzed 57 consanguine Pakistani MCPH families. In 34 MCPH families, we detected linkage to five out of the eight well-characterized disease loci and identified mutations in 27 families, leaving seven families without mutations in the coding exons of the presumably underlying MCPH genes. In the MCPH cohort 23 families could not be linked to any of the known loci, pointing to remarkable locus heterogeneity. The majority of mutations were found in ASPM followed by WDR62, CENPJ, CEP152 and MCPH1. One ASPM mutation (p.Trp1326*) was found in as many as eight families suggesting a Pakistani founder mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population.

Prevention of beta-thalassemia in a large Pakistani family through cascade testing.

BACKGROUND: We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. OBJECTIVE: The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan. METHODS: In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family. RESULTS: There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions. CONCLUSION: Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of beta-thalassemia in order to reduce disease occurrence through awareness and genetic counseling.

Prostatic infarction/infection in acute urinary retention secondary to benign prostatic hyperplasia.

PURPOSE: We assess the role of acute prostatic infarction and prostatic inflammation in causing acute urinary retention in patients with benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: A prospective controlled clinicopathological study was undertaken comparing 35 patients who presented with acute urinary retention secondary to BPH with another 35 patients with symptomatic BPH. All 70 patients were treated with transurethral resection. The prostatic chips in each group were examined by 1 histopathologist, who was unaware of the clinical presentation of the patient, for changes of infarction, acute and chronic inflammation, and predominant histological pattern. RESULTS: There was a higher incidence of glandular pattern in the retention group compared to a stromal pattern in the control group, which was statistically significantly different (p < 0.001). A 5-fold higher incidence of prostatic carcinoma was noted in the acute retention group, which was also statistically significant (p < 0.05). CONCLUSIONS: Prostatic infarction and inflammation had no role in the etiology of acute urinary retention due to BPH.