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Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging.

ObjectiveThe objective of this study is to identify the incidence of and risk factors for urinary tract infection (UTI) after office cystoscopy and urodynamic studies (UDS) in a female population.MethodsThis was a retrospective cohort study investigating incidence of and risk factors for UTI after office testing. Inclusion criteria included women presenting for either cystoscopy or UDS from September 2019 to February 2020. Modified Poisson regression with robust error variance was used to identify risk factors for UTI after cystoscopy and UDS in a female population.ResultsA total of 274 patients met inclusion criteria. One hundred eighty-five patients underwent office cystoscopy. Nine (4.8%) had a postcystoscopy UTI. Significant risk factors for postcystoscopy UTI included recurrent UTI (relative risk, 7.51; 95% confidence interval, 1.66–34.05) and a history of interstitial cystitis (relative risk, 4.56; 95% confidence interval, 1.52–13.73). Of those with recurrent UTI, 13.7% had a postcystoscopy UTI. Among patients with interstitial cystitis, 25% had a postcystoscopy UTI. One hundred ninety-two patients underwent UDS. Ten (5.2%) developed a post-UDS UTI. No risk factors were identified.ConclusionsPatients with recurrent UTI were 7.51 times more likely to develop a UTI after cystoscopy, whereas those with interstitial cystitis were 4.56 times more likely to develop a UTI after cystoscopy. The incidence of UTI after UDS was low overall. Understanding who is at higher risk of postprocedural UTIs may help identify subpopulations that may benefit from prophylactic strategies.

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