[Translated article] Results of a preoperative screening and decolonization programme for Staphylococcus aureus in primary hip and knee arthroplasty.

INTRODUCTION: Detection and decolonization of Staphylococcus aureus prior to surgery is postulated as an option to reduce the risk of infection in arthroplasties. The aim of this study was to evaluate the effectiveness of a screening programme for S. aureus in total knee arthroplasty (TKA) and total hip arthroplasty (THA), the incidence of infection with respect to a historical cohort, and its economic viability. MATERIAL AND METHODS: Pre-post intervention study in patients undergoing primary knee and hip prostheses in 2021, a protocol was carried out to detect nasal colonization by S. aureus and eradication if appropriate, with intranasal mupirocin, post-treatment culture with results three weeks between post-treatment culture and surgery. Efficacy measures are evaluated, costs are analyzed and the incidence of infection is compared with respect to a historical series of patients operated on between January and December 2019, performing a descriptive and comparative statistical analysis. RESULTS: The groups were statistically comparable. Culture was performed in 89%, with 19 (13%) positive patients. Treatment was confirmed in 18, control culture in 14, all decolonized; none suffered infection. One culture-negative patient suffered from Staphylococcus epidermidis infection. In historical cohort: three suffered deep infection by S. epidermidis, Enterobacter cloacae, Staphylococcus aureus. The cost of the programme is €1661.85. CONCLUSION: The screening programme detected 89% of the patients. The prevalence of infection in the intervention group was lower than in the cohort, with S. epidermidis being the main micro-organism, different from S. aureus described in the literature and in the cohort. We believe that this programme is economically viable, as its costs are low and affordable.

Results of a preoperative screening and decolonization program for Staphylococcus aureus in primary hip and knee arthroplasty. / Resultados de un programa de descolonización de Staphylococcus aureus en cirugía protésica primaria de cadera y rodilla.

INTRODUCTION: Detection and decolonization of Staphylococcus aureus prior to surgery is postulated as an option to reduce the risk of infection in arthroplasties. The aim of this study was to evaluate the effectiveness of a screening program for S. aureus in total knee arthroplasty (TKA) and total hip arthroplasty (THA), the incidence of infection with respect to a historical cohort, and its economic viability. MATERIAL AND METHODS: Pre-post intervention study in patients undergoing primary knee and hip prostheses in 2021, a protocol was carried out to detect nasal colonization by S. aureus and eradication if appropriate, with intranasal mupirocin, post-treatment culture with results three weeks between post-treatment culture and surgery. Efficacy measures are evaluated, costs are analyzed and the incidence of infection is compared with respect to a historical series of patients operated on between January and December 2019, performing a descriptive and comparative statistical analysis. RESULTS: The groups were statistically comparable. Culture was performed in 89%, with 19 (13%) positive patients. Treatment was confirmed in 18, control culture in 14, all decolonized; none suffered infection. One culture-negative patient suffered from Staphylococcus epidermidis infection. In historical cohort: 3 suffered deep infection by S. epidermidis, Enterobacter cloacae, S. aureus. The cost of the program is €1661.85. CONCLUSION: The screening program detected 89% of the patients. The prevalence of infection in the intervention group was lower than in the cohort, with S. epidermidis being the main microorganism, different from S. aureus described in the literature and in the cohort. We believe that this program is economically viable, as its costs are low and affordable.

Assessing physical activity in people with mental illness: 23-country reliability and validity of the simple physical activity questionnaire (SIMPAQ).

BACKGROUND: Physical inactivity is a key contributor to the global burden of disease and disproportionately impacts the wellbeing of people experiencing mental illness. Increases in physical activity are associated with improvements in symptoms of mental illness and reduction in cardiometabolic risk. Reliable and valid clinical tools that assess physical activity would improve evaluation of intervention studies that aim to increase physical activity and reduce sedentary behaviour in people living with mental illness. METHODS: The five-item Simple Physical Activity Questionnaire (SIMPAQ) was developed by a multidisciplinary, international working group as a clinical tool to assess physical activity and sedentary behaviour in people living with mental illness. Patients with a DSM or ICD mental illness diagnoses were recruited and completed the SIMPAQ on two occasions, one week apart. Participants wore an Actigraph accelerometer and completed brief cognitive and clinical assessments. RESULTS: Evidence of SIMPAQ validity was assessed against accelerometer-derived measures of physical activity. Data were obtained from 1010 participants. The SIMPAQ had good test-retest reliability. Correlations for moderate-vigorous physical activity was comparable to studies conducted in general population samples. Evidence of validity for the sedentary behaviour item was poor. An alternative method to calculate sedentary behaviour had stronger evidence of validity. This alternative method is recommended for use in future studies employing the SIMPAQ. CONCLUSIONS: The SIMPAQ is a brief measure of physical activity and sedentary behaviour that can be reliably and validly administered by health professionals.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) was completed on four affected members of a large family, and variants and co-segregation was confirmed by Sanger sequencing. All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness. The PS proband is also homozygous for a frameshift variant (c.1453_1454delGA, p.(Glu485Lysfs*5)) in exon 7 of SGO2 encoding shugoshin 2, which is the likely cause of her concurrent ovarian insufficiency. In mouse, Sgol2a encoding shugoshin-like 2a is necessary during meiosis in both sexes to maintain the integrity of the cohesin complex that tethers sister chromatids. Human SGO2 has not previously been implicated in any disorder, but in this case of POI and perhaps others, it is a candidate for unexplained infertility.

Molecular markers located on the DGAT1, CAST, and LEPR genes and their associations with milk production and fertility traits in Holstein cattle.

The objective of the present study was to investigate single nucleotide polymorphisms (SNPs) located in three candidate genes previously reported to have effects on fertility and milk production traits in a population of 123 Holstein cows. The milk production traits evaluated included lifetime averages of milk yield, protein concentration, and fat concentration. Fertility traits evaluated included lifetime averages of services per conception and days-open. Candidate genes included those encoding diacylglycerol acyltransferase (DGAT1), leptin receptor (LEPR), and calpastatin (CAST). A total of 60 SNPs were selected (20 per gene) at equidistant locations on each candidate gene to identify potential linkage with causative mutations. Four SNPs were identified as being significantly associated with the evaluated fertility traits. Specifically, SNPs rs109663724 and rs137673193 were significantly associated with lifetime average days-open, while rs109663724 and rs135560721 were significantly associated with lifetime average number of services per conception. Five SNP (rs109663724, rs132699547, rs135423283, rs135576599, and rs13675432) were significantly associated with lifetime averages of milk protein concentration and milk fat concentration, with only one SNP (rs109663724) being significantly associated with the average lifetime milk yield. Although multiple SNPs were identified in the current study as being significantly associated with milk production and fertility traits, it is essential that these SNPs are validated in larger populations, under more diverse environments, and that additional SNPs and candidate genes are evaluated prior to their implementation into selection strategies.

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

We ascertained a large North American family, LMG2, segregating progressive, non-syndromic, sensorineural hearing loss. A genome-wide scan identified significant evidence for linkage (maximum logarithm of the odds (LOD) score = 4.67 at theta = 0 for D4S398) to markers in a 5.7-cM interval on chromosome 4q12-13.1. The DFNA27 interval spans 8.85 Mb and includes at least 61 predicted and 8 known genes. We sequenced eight genes and excluded them as candidates for the DFNA27 gene.

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be 40%-50%. Gene mutations that cause nonsyndromic progressive hearing loss with early onset may provide insight into the etiology of presbycusis. We have identified four families segregating an autosomal dominant, progressive, sensorineural hearing loss phenotype that has been linked to chromosome 17q25.3. The critical interval containing the causative gene was narrowed to approximately 2 million bp between markers D17S914 and D17S668. Cochlear-expressed genes were sequenced in affected family members. Sequence analysis of the gamma-actin gene (ACTG1) revealed missense mutations in highly conserved actin domains in all four families. These mutations change amino acids that are conserved in all actins, from protozoa to mammals, and were not found in >100 chromosomes from normal hearing individuals. Much of the specialized ultrastructural organization of the cells in the cochlea is based on the actin cytoskeleton. Many of the mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with actin (e.g., the myosins, espin, and harmonin). The mutations we have identified are in various binding domains of actin and are predicted to mildly interfere with bundling, gelation, polymerization, or myosin movement and may cause hearing loss by hindering the repair or stability of cochlear cell structures damaged by noise or aging. This is the first description of a mutation in cytoskeletal, or nonmuscle, actin.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss.

OBJECTIVE: The purpose of this research was to identify the gene responsible for a novel form of nonsyndromic, late-onset, bilateral, progressive, sensorineural hearing loss in a Michigan family of English descent. This report describes the audiologic aspects of the search. DESIGN: Fifty-eight members of the family served as subjects for the study. Family pedigree information was gathered from family interviews, family records, birth and death registration records and census data. Audiologic evaluation was used to describe the hearing loss (phenotype) and classify family members as affected or unaffected based on hearing status. These data then were used in a linkage analysis, a process in which the inheritance of a trait is compared with the inheritance of genetic markers and statistically significant associations are sought. RESULTS: The team mapped the hearing loss to the long arm of chromosome 17 at band 17q25. The pattern of inheritance is autosomal dominant. The search for the gene is continuing using a candidate gene approach. CONCLUSIONS: The hearing loss demonstrated by this mid-Michigan family is a novel form of nonsyndromic, genetic, late-onset, bilateral, progressive, sensorineural hearing loss. The locus of the gene, the 20th for autosomal dominant hearing loss, is at band 17q25 of chromosome 17.

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

Tight junctions in the cochlear duct are thought to compartmentalize endolymph and provide structural support for the auditory neuroepithelium. The claudin family of genes is known to express protein components of tight junctions in other tissues. The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families. In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D10S1737, approximately 0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA.

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

Previous studies of the gap-junction beta-2 subunit gene GJB2 (connexin 26) have suggested that the 101T-->C (M34T) nucleotide substitution may be a mutant allele responsible for recessive deafness DFNB1. This hypothesis was consistent with observations of negligible intercellular coupling and gap-junction assembly of the M34T allele product expressed in Xenopus oocytes and HeLa cells. The results of our current study of a family cosegregating the 167delT allele of GJB2 and severe DFNB1 deafness demonstrate that this phenotype did not cosegregate with the compound-heterozygous genotype M34T/167delT. Since 167delT is a null allele of GJB2, this result indicates that the in vivo activity of a single M34T allele is not sufficiently reduced to cause the typical deafness phenotype associated with DFNB1. This observation raises the possibility that other GJB2 missense substitutions may not be recessive mutations that cause severe deafness and emphasizes the importance of observing cosegregation with deafness in large families to confirm that these missense alleles are mutant DFNB1 alleles.

A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

We report the localization of DFNA20, a gene causing dominant, nonsyndromic, progressive hearing loss in a three-generation Midwestern family, to chromosome 17q25. Affected family members show a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6000 and 8000 Hz, that can be identified in some family members in the early teens and is clearly evident by the early twenties. As age increases, the degree of hearing loss increases with threshold shifts seen at all frequencies. Linkage to known hereditary hearing loss loci was excluded. A genome-wide screen detected positive linkage to D17S784 (LOD(Z) = 6.62; θ = 0). Haplotype analysis refines the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Radiation hybrid mapping with Stanford G3 and TNG panels was used to evaluate the genes ACTG1, GRIN2C, FKHL13, P4HB, SPARC, and ARHGDIA as candidates for DFNA20.

Ulnar nerve pressure: influence of arm position and relationship to somatosensory evoked potentials.

BACKGROUND: Although the ulnar nerve is the most frequent site of perioperative neuropathy, the mechanism remains undefined. The ulnar nerve appears particularly susceptible to external pressure as it courses through the superficial condylar groove at the elbow, rendering it vulnerable to direct compression and ischemia However, there is disagreement among major anesthesia textbooks regarding optimal positioning of the arm during anesthesia. METHODS: To determine which arm position (supination, neutral orientation, or pronation) minimizes external pressure applied to the ulnar nerve, we studied 50 awake, normal volunteers using a computerized pressure sensing mat. An additional group of 15 subjects was tested on an operating table with their arm in 30 degrees, 60 degrees, and 90 degrees of abduction, as well as in supination, neutral orientation, and pronation. To determine the onset of clinical paresthesia compared to the onset and severity of somatosensory evoked potential (SSEP) electrophysiologic changes, we studied a separate group of 16 male volunteers while applying intentional pressure directly to the ulnar nerve. Data are presented as mean (median; range). RESULTS: Supination minimizes direct pressure over the ulnar nerve at the elbow (2 mmHg [0; 0-23]; n = 50), compared with both neutral forearm orientation (69 mmHg [22; 0-220]; P < 0.0001), as well as pronation (95 mmHg [61; 0-220]; P < 0.0001). Neutral forearm orientation also results in significantly less pressure over the ulnar nerve compared to pronation (P < or = 0.04). The estimated contact area of the ulnar nerve with the weight-bearing surface was significantly (P < 0.0001) smaller in the supine position (2.2 cm2 [0.5; 0-9]; n = 50) compared with both neutral orientation (5.5 cm2 [5.0; 0-13]) and pronation (5.8 cm2 [6; 0-12]). With the forearm in neutral orientation, ulnar nerve pressure decreased significantly (P < or = 0.01; n = 15) as the arm was abducted at the shoulder from 0 degrees to 90 degrees. In the 16 male subjects tested, notable alterations in ulnar nerve SSEP signals (decrease > or = 20% in N9-N9' amplitude) were detected in 15 of 16 awake males during application of intentional pressure to the ulnar nerve. However, eight of these subjects did not perceive a paresthesia, even as SSEP waveform amplitudes were decreasing 23-72%. Two of these eight subjects manifested severe decreases in SSEP amplitude (> or = 60%). CONCLUSIONS: Extrapolating these results to the clinical setting, the supinated arm position is likely to minimize pressure over the ulnar nerve. With the forearm in neutral orientation, pressure over the ulnar nerve decreases as the arm is abducted between 30 degrees and 90 degrees. In addition, up to one half of male patients may fail to perceive or experience clinical symptoms of ulnar nerve compression sufficient to elicit SSEP changes.

Tracheal intubation of healthy pediatric patients without muscle relaxant: a survey of technique utilization and perceptions of safety.

UNLABELLED: We conducted a survey of Society for Pediatric Anesthesia anesthesiologists practicing within the United States to determine the frequency of tracheal intubation of healthy infants and children using an inhaled anesthetic without muscle relaxation (IAWMR). We also examined reasons for the use of this technique. Of all responders who listed their most often used technique for tracheal intubation of healthy infants and children, IAWMR was chosen over intubation with a muscle relaxant by 38.1% and 43.6%, respectively. Anesthesiologists who most often used IAWMR for tracheal intubation of healthy infants and children had over twice the odds (odds ratio [OR] 2.30 for infants, 95% confidence interval [CI] 1.18-4.50; P = 0.015) of classifying their own practice as nonacademic, and one-third the odds (OR 0.34 for infants, 95% CI 0.17-0.68; P = 0.002) of conducting more than half of their cases in a supervisory role. Anesthesiologists who use IAWMR to tracheally intubate healthy pediatric patients most commonly selected as their reasons the lack of need for a muscle relaxant and the desire to avoid both succinylcholine and the excessive duration of nondepolarizing muscle relaxants. IMPLICATIONS: Inhaled anesthetic without muscle relaxation is the most often used method of intubation for more than one third of Society for Pediatric Anesthesia anesthesiologists when tracheally intubating healthy, fasted pediatric patients undergoing elective procedures. The frequency of this practice seems to be highest in nonacademic practices.

[Utility of COPA (cuffed oropharyngeal airway) in anesthesia for colonoscopies]. / Utilidad del COPA (cuffed oropharyngeal airway) en anestesia para colonoscopias.

OBJECTIVE: To assess the usefulness of the cuffed oropharyngeal airway (COPA), a new device for airway control, in 45 patients scheduled for colonoscopy. PATIENTS AND METHODS: The patients were anesthetized with propofol and the COPA was applied following the manufacturer's recommendations. Positive pressure ventilation was provided at first, and later the patients were allowed to breathe spontaneously. RESULTS: The mean dose of propofol needed to place the COPA correctly was 2.3 +/- 0.3 mg.kg-1. "Free hands" anesthesia was possible in 43 procedures (96%). Placement had to be attempted several times in five patients (11%) before adequate ventilation was achieved. Two patients (4%) had to be switched to a smaller or larger size COPA. In two others (4%), the technique was abandoned because of inadequate ventilation. No hemodynamic changes were observed after placement, although systolic blood pressure tended to increase slightly during colonoscopy, while heart rate decreased. Spontaneous ventilation was possible in all cases and respiratory frequency and end-tidal CO2 increased significantly during colonoscopy. No cases of laryngospasm or sore throat were observed, although 10 patients (22%) coughed upon emergence from anesthesia. CONCLUSIONS: The COPA is a new alternative to intubation or other methods for controlling the airway during short procedures, making "free hands" anesthesia possible in most cases. Provided contraindications are respected, the number and seriousness of complications seems to be minimal.