Does correction of carpal malalignment influence the union rate of scaphoid nonunion surgery?

Unlabelled: The aim of this retrospective study was to assess the relation between carpal malalignment correction and radiological union rates in surgery for scaphoid nonunions. A total of 59 scaphoid waist fracture nonunions treated with open reduction and palmar tricortical autograft were divided according to their pre- and postoperative scapholunate (SL) and radiolunate (RL) angles. We found that carpal malalignment failed to correct in 32 of 59 (54.

Influence of family history on penetrance of hereditary cancers in a population setting.

Background: We sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort.

Methods: We analysed 454,712 UK Biobank participants with exome sequence and clinical data (data collected between March 2006 and June 2021). We identified participants with a self-reported family history of breast or colorectal cancer and a pathogenic/likely pathogenic variant in the major genes responsible for hereditary breast cancer or Lynch syndrome.

Anatomic Monopolar Press-fit Radial Head Arthroplasty; High Rate of Loosening at Mid-Term Follow Up.

Introduction: Radial head arthroplasty (RHA) is used for the management of unstable or unreconstructable injuries of the radial head. Our aim was to investigate clinical and radiographic outcomes in patients treated with the Acumed anatomic radial head press-fit system for trauma.

Methods: Clinical and radiographic assessment of RHAs undertaken for trauma with minimum 2-year follow-up.

Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.

Objective: To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population.

Design: Retrospective, population based diagnostic evaluation.

Participants: 49 908 people recruited to the UK Biobank with SNP chip and next generation sequencing data, and an additional 21 people who purchased consumer genetic tests and shared their data online via the Personal Genome Project.

Failed Trapeziectomy Treated by Thumb Metacarpal Base Arthrodesis: A Case Series.

Trapeziometacarpal joint arthritis is a prevalent condition with a preponderance to women. Most cases are asymptomatic, but typical symptoms are pain, reduced dexterity, and functional decline. Trapeziectomy is the most common surgical treatment in the United Kingdom for patients who remain significantly symptomatic despite nonoperative measures, and this generally produces acceptable outcomes; however, a proportion of patients remain significantly symptomatic.

No association between SCN9A and monogenic human epilepsy disorders.

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.

Prediction of stream nitrogen and phosphorus concentrations from high-frequency sensors using Random Forests Regression.

Stream nutrient concentrations exhibit marked temporal variation due to hydrology and other factors such as the seasonality of biological processes. Many water quality monitoring programs sample too infrequently (i.e.

Fasciectomy under local anaesthetic and adrenaline for Dupuytren's contracture in a community setting in the UK with a cost analysis.

Aims: In the UK, fasciectomy for Dupuytren's contracture is generally performed under general or regional anaesthetic, with an arm tourniquet and in a hospital setting. We have changed our practice to use local anaesthetic with adrenaline, no arm tourniquet, and perform the surgery in a community setting. We present the outcome of a consecutive series of 30 patients.

Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India.

Type 1 diabetes (T1D) is a significant problem in Indians and misclassification of T1D and type 2 diabetes (T2D) is a particular problem in young adults in this population due to the high prevalence of early onset T2D at lower BMI. We have previously shown a genetic risk score (GRS) can be used to discriminate T1D from T2D in Europeans. We aimed to test the ability of a T1D GRS to discriminate T1D from T2D and controls in Indians.

Altering social cue perception impacts honey bee aggression with minimal impacts on aggression-related brain gene expression.

Gene expression changes resulting from social interactions may give rise to long term behavioral change, or simply reflect the activity of neural circuitry associated with behavioral expression. In honey bees, social cues broadly modulate aggressive behavior and brain gene expression. Previous studies suggest that expression changes are limited to contexts in which social cues give rise to stable, relatively long-term changes in behavior.

Clinical predictors of antitachycardia pacing response in implantable cardioverter defibrillator patients.

Background: Antitachycardia pacing (ATP) provides safe and painless termination of reentrant ventricular arrhythmias in patients with implantable cardioverter defibrillator (ICDs), improving their quality of life. Established predictors of ATP responsiveness are not well known; only longer ventricular tachycardia (VT) cycle length and higher ejection fraction have been found to predict ATP success.

Objective: To investigate clinical and ECG predictors of ATP response in ICD patients with monomorphic VT.

Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.

Sleep is an essential human function but its regulation is poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing sleep quality, quantity and timing, and validate our findings in 5,819 individuals. We identify 47 genetic associations at P < 5 × 10, of which 20 reach a stricter threshold of P < 8 × 10.

Infected chronic sinus secondary to a retained fragment of radial artery introducer sheath following percutaneous coronary intervention (PCI).

Coronary angiography and percutaneous coronary intervention (PCI) are frequently performed procedures in the UK and the developed world, with the radial artery becoming the preferred route of access. A chronically retained macroscopic fragment of radial artery introducer sheath is a very rare complication that has not, to our knowledge, been reported. We report the case of a 62-year-old woman who underwent PCI and developed a persisting infected sinus and abscess at the cannulation site despite multiple courses of antibiotics.

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease.

Importance: Use of thiopurines may be limited by myelosuppression. TPMT pharmacogenetic testing identifies only 25% of at-risk patients of European ancestry. Among patients of East Asian ancestry, NUDT15 variants are associated with thiopurine-induced myelosuppression (TIM).

Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.

Being a morning person is a behavioural indicator of a person's underlying circadian rhythm. Using genome-wide data from 697,828 UK Biobank and 23andMe participants we increase the number of genetic loci associated with being a morning person from 24 to 351. Using data from 85,760 individuals with activity-monitor derived measures of sleep timing we find that the chronotype loci associate with sleep timing: the mean sleep timing of the 5% of individuals carrying the most morningness alleles is 25 min earlier than the 5% carrying the fewest.

Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms.

Objective: Diverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease.

Design: Discovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent.

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.

Objective: Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci. We aimed to more completely incorporate HLA alleles, their interactions, and recently discovered non-HLA loci into an improved T1D GRS (termed the "T1D GRS2") to better discriminate diabetes subtypes and to predict T1D in newborn screening studies.

Research Design And Methods: In 6,481 case and 9,247 control subjects from the Type 1 Diabetes Genetics Consortium, we analyzed variants associated with T1D both in the HLA region and across the genome.

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.

Erectile dysfunction (ED) is a common condition affecting more than 20% of men over 60 years, yet little is known about its genetic architecture. We performed a genome-wide association study of ED in 6,175 case subjects among 223,805 European men and identified one locus at 6q16.3 (lead variant rs57989773, OR 1.

Implications of irradiance exposure and non-photochemical quenching for multi-wavelength (bbe FluoroProbe) fluorometry.

Multi-wavelength fluorometers, such as the bbe FluoroProbe (FP), measure excitation spectra of chlorophyll a (Chl-a) fluorescence to infer the abundance and composition of phytoplankton communities as well as the concentration of chromophoric dissolved organic matter (CDOM). Experiments were conducted on laboratory cultures and on natural communities of freshwater phytoplankton to determine how the response of phytoplankton to high irradiance might affect fluorometric estimates of community composition and concentrations of Chl-a and CDOM. Cultures of a representative cyanobacterium, bacillariophyte, synurophyte, cryptophyte, and chlorophyte revealed changes in Chl-a excitation spectra as irradiance was increased to saturating levels and non-photochemical quenching (NPQ) increased.

Long-term results of the lateral resurfacing elbow arthroplasty.

Aims: The aim of this study was to report the long-term outcome and implant survival of the lateral resurfacing elbow (LRE) arthroplasty in the treatment of elbow arthritis.

Patients And Methods: We reviewed a consecutive series of 27 patients (30 elbows) who underwent LRE arthroplasty between December 2005 and January 2008. There were 15 women and 12 men, with a mean age of 61 years (25 to 82).

Diagnostic accuracy of single-compartment magnetic resonance arthrography in detecting common causes of chronic wrist pain.

Unlabelled: We reviewed a series of 50 consecutive wrist arthroscopy patients who had been investigated pre-operatively by direct magnetic resonance arthrography and calculated the sensitivity, specificity, positive predictive value, negative predictive value and overall accuracy of magnetic resonance arthrography in detecting full-thickness triangular fibrocartilage complex tears, intrinsic carpal ligamentous lesions, wrist synovitis and chondral lesions in the radiocarpal joint. The sensitivities of magnetic resonance arthrography in detecting central triangular fibrocartilage complex tears, peripheral triangular fibrocartilage complex tears, scapholunate ligament tears, lunotriquetral ligament tears, dorsal synovitis and radiocarpal chondral lesions were 89%, 63%, 71%, 100%, 32% and 65%, respectively, and its specificities in detecting these lesions were 91%, 98%, 89%, 94% 94% and 97%, respectively. This study suggests that single compartment direct wrist magnetic resonance arthrography can provide high diagnostic accuracy for full-thickness triangular fibrocartilage lesions, intrinsic carpal ligament tears and chondral lesions in the radiocarpal joint, but that it is much less accurate in diagnosing synovitis of the radiocarpal joint.

Restoring Emphasis on Ambulatory Internal Medicine Training-The 3∶1 Model.

Background: Resident dissatisfaction in ambulatory care training has prompted the need for new scheduling models that support a positive learning climate.

Intervention: We instituted a 3∶1 scheduling model for postgraduate year (PGY)-2 and PGY-3 residents. We hypothesized this model would provide a more structured ambulatory educational atmosphere, better continuity of care, and more exposure to subspecialty outpatient medicine.

Renal Cell Carcinoma Presenting with Paraneoplastic Hallucinations and Cognitive Decline from Limbic Encephalitis.

We present a 66-year-old woman with 2 months of visual hallucinations, unintentional weight loss, and short-term memory decline, whose clinical presentation and EEG supported a diagnosis of limbic encephalitis. Subsequent evaluation for a paraneoplastic etiology revealed a renal mass, which was resected and identified as clear cell renal carcinoma. The patient's clinical condition improved after resection of the mass.

Global trauma: the great divide.

Road trauma is an emergent global issue. There is huge disparity between the population affected by road trauma and the resource allocation. If the current trend continues, a predicted extra 5 million lives will be lost in this decade.