Validation of MCADD newborn screening

Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) represents a potentially fatal fatty acid β‐oxidation disorder. Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has been implemented worldwide, but is associated with unresolved questions regarding population heterogeneity, burden on healthy carriers, cut‐off policies, false‐positive and negative rates. In a retrospective case‐control study, 333 NBS samples showing borderline acylcarnitine patterns but not reaching recall criteria were genotyped for the two most common mutations (c.985A>G/c.199C>T) and compared with genotypes and acylcarnitines of 333 controls, 68 false‐positives, and 34 patients. c.985A>G was more frequently identified in the study group and false‐positives compared to controls (1:4.3/1:2.3 vs. 1:42), whereas c.199C>T was found more frequently only within the false‐positives (1:23). Biochemical criteria were devised to differentiate homozygous (c.985A>G), compound heterozygous (c.985A>G/c.199C>T), and heterozygous individuals. Four false‐negatives were identified because our initial algorithm required an elevation of octanoylcarnitine (C₈) and three secondary markers in the initial and follow‐up sample. The new approach allowed a reduction of false‐positives (by defining high cut‐offs: 1.4 μmol/l for C₈; 7 for C₈/C₁₂) and false‐negatives (by sequencing the ACADM gene of few suspicious samples). Our validation strategy is able to differentiate healthy carriers from patients doubling the positive predictive value (42→88%) and to target NBS to MCADD‐subsets with potentially higher risk of adverse outcome. It remains controversial, if NBS programs should aim at identifying all subsets of all diseases included. Because the natural course of milder variants cannot be assessed by observational studies, our strategy could serve as a general model for evaluation of MS/MS‐based NBS.     

Understanding adolescent girls' and young women's health-seeking for female genital cosmetic surgery: How can clinicians help their patients?

Aim

This study aimed to understand why adolescent girls and young women (AGYW) would seek consultation with a health professional about genital appearance concerns and/or request female genital cosmetic surgery (FGCS). The information derived from these participant interviews can inform clinical practice and help clinicians better navigate consultations with young women and girls requesting FGCS.

Methods

A qualitative exploratory study was conducted using in-depth, semi-structured interviews with AGYW (n = 11) in Victoria, Australia. Participants comprised 11 AGYW who sought consultation with a health professional when aged 13–19 years for genital appearance concerns and/or requests for FGCS. Key themes were identified using a thematic analysis approach.

Results

Of 11 participants, five had undergone FGCS between the ages of 13 and 23 years. Key reasons for seeking a consultation identified in the interviews included: ideas about what ‘normal’ genitals look like, experiences of sexual harassment and bullying, and concerns about genital appearance developing before sexual debut.

Conclusions

It is important to understand why AGYW want to access these procedures, given the risks involved, and that FGCS is not recommended by paediatric specialist organisations. Understanding why AGYW seek consultation for FGCS can help inform clinical practice, and the views expressed by participants in this study can help clinicians who work in this area to better support their patients.     

Primary infertility associated with schitosoma mansoni: a case report from the Jos plateau,north central Nigeria

Testicular schistosomiasis caused by Schistosoma mansoni is very rare and more so when associated with primary infertility. A 40 years old man from the Jos Plateau, North Central Nigeria presented with primary infertility after ten years of marriage. Sperm count revealed oligospermia and he also complained of inability to sustain erection. Testicular biopsy revealed several ova of Schistosoma mansoni in the connective tissue of the testes. Cases of infertility in endemic areas especially when there is no supply of potable water should raise suspicion of schistosomiasis among other pathologies and possible hormonal disturbances when the testes are involved.     

Scanning electron microscopy (SEM) investigation of selected desensitizing agents in the dentine disc model

Abstract— Dentine sensitivity is a painful clinical condition that can affect up to 35% of the population at any one time. Both professionally available (in-office) or commercially available (over-the-counter) products have been used to treat dentine sensitivity. The aim of the present study was to investigate whether selected in-office desensitizing agents occluded dentine tubules in the dentine disc model. Both surface effects and tubule penetration of the five selected test products were examined by scanning electron microscopy. The results of the present study appeared to demonstrate that all of the applied desensitizing agents produced some occlusion of the tubules although the level of coverage and occlusion vaned between the products. Of all the agents tested, ferric oxalate, the active ingredient of Sensodyne Sealant, produced crystal-like structures which occluded a higher proportion of the tubules across the dentine disc surface. ALL-BOND 2 and One-Step (both light-cured primer systems) produced similar crystal-like structures and, although coverage was not uniform across the disc surface, there was some reduction in tubule diameter. These three products, however, appeared to be more effective than either Butler Protect (potassium oxalate) or Oxa-gel (potassium oxalate in a gel) where there was a marked decrease in both the level of coverage and tubule occlusion. Both quantitative and functional studies are required in order to determine the effects of these agents on dentine permeability (fluid flow) as well as clinical studies to determine their effectiveness over time in reducing pain arising from dentine sensitivity.     

Antimicrobial technology in orthopedic and spinal implants

Infections can hinder orthopedic implant function and retention.Current implant-based antimicrobial strategies largely utilize coating-based approaches in order to reduce biofilm formation and bacterial adhesion.Several emerging antimicrobial technologies that integrate a multidisciplinary combination of drug delivery systems,material science,immunology,and polymer chemistry are in development and early clinical use.This review outlines orthopedic implant antimicrobial technology,its current applications and supporting evidence,and clinically promising future directions.