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Association Between Cigarette Smoking and Early Improvement in Lower Urinary Tract Symptoms After 180-W GreenLight Photoselective Vaporization of the Prostate: Findings From a Dual-Center Study.

Authors: Wanifuchi A, Kyoda Y, Morooka D, Mamiya K, Muranaka I, Hashimoto K, Kobayashi K, Tanaka T, Masumori N
Journal: International journal of urology : official journal of the Japanese Urological Association
mental health psychology open access

Abstract

Pyruvate dehydrogenase complex is a mitochondrial matrix complex enzyme that connects glycolysis to the tricarboxylic acid cycle through catalyzing the conversion of pyruvate to acetyl coenzyme A [, ]. Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common causes of mitochondrial disease and lactic acidosis [, ]. The clinical spectrum includes: prenatal onset with brain lesions, growth restriction, microcephaly, and facial dysmorphism; neonatal presentations with hypotonia, encephalopathy, and lactic acidosis; and later, childhood or adult manifestations such as Leigh syndrome, episodic ataxia, dystonia, stroke‐like episodes, and polyneuropathy [, , , ]. Intellectual disability (ID), movement disorders, and seizures are reported in > 50% of all individuals []. The birth prevalence has been reported as 2.43 per 100,000 live births while the point prevalence is 0.44 per 100,000 []. ID is reported in 60%–83% of individuals with PDCD; however, prior studies have typically included small cohorts and lacked standardized assessments of cognitive and adaptive functioning [, , ]. Females are more likely to survive but tend to have poorer cognitive outcomes, typically ranging from severe to profound ID. Motor manifestations have been primarily described in terms of spasticity and associated movement disorders [, ], whereas gross motor function and overall functional mobility remain poorly characterized. Epilepsy is a common early feature of PDCD, affecting 26%–57% of patients [, , ], yet its long‐term outcomes and prognostic factors have not been well studied. Available treatment options for PDCD are limited and primarily focus on metabolic modulation. A ketogenic diet (KD) has been used to provide an alternative energy source by promoting ketone body utilization, thereby reducing dependence on pyruvate oxidation [, , ]. Given that thiamine pyrophosphate serves as an essential cofactor of the pyruvate dehydrogenase complex, thiamine supplementation is used to enhance residual enzymatic activity, though clinical benefit is only observed in a subset of patients [, ]. Nevertheless, current evidence regarding treatment efficacy and safety is largely based on individual case reports [, , , , ] and small patient series [, ].