A rare case report: unscarred uterus rupture in pregnancy with intra-abdominal missing foetal limb

Ruptured uterus is an obstetric and surgical emergency that can lead to maternal or fetal death. Spontaneous rupture of an unscarred uterus during pregnancy is a rare occurrence. The incidence of ruptured uterus is 0.3 to 1.7% in women with scarred uterus, and 0.03 to 0.08% among women with unscarred uterus. We report a rare case of spontaneous uterine rupture at 30 weeks of gestation with missing fetal limb. Later on, after doing emergency laparotomy the missing limb was found in the abdominal cavity of the patient who had an unscarred uterus. Uterine rupture occurring in an unscarred uterus is sometimes an unpredictable event. Abdominal pain occurring on a pregnant woman should be seriously managed. Ultrasound scan and external electronic fetal monitoring should be carried out rapidly so as to diagnose the uterine rupture at the earliest

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value OBFC1indicated the independent signals colocalized with cell-type specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated our TL polygenic trait scores (PTS) were associated with increased risk of cancer-related phenotypes

Post-operative hearing among patients with labyrinthine fistula as a complication of cholesteatoma using “under water technique”

Introduction!#!During surgery in patients with labyrinthine fistula the mandatory complete removal of the cholesteatoma while preserving inner ear and vestibular function is a challenge. Options so far have been either the complete removal of the cholesteatoma or leaving the matrix on the fistula. We evaluated an alternative 'under water' surgical technique for complete cholesteatoma resection, in terms of preservation of postoperative inner ear and vestibular function.!##!Methods!#!From 2013 to 2019, 20 patients with labyrinthine fistula due to cholesteatoma were operated. We used the canal wall down approach and removal of matrix on the fistula was done as the last step during surgery using the 'under water technique'. The pre and postoperative hearing tests and the vestibular function were retrospectively examined.!##!Results!#!There was no significant difference between pre and post-operative bone conduction thresholds; 20% experienced an improvement of more than 10 dB, with none experiencing a postoperative worsening of sensorineural hearing loss. Among seven patients who presented with vertigo, two had transient vertigo postoperatively but eventually recovered.!##!Conclusion!#!Our data show that the 'under water technique' for cholesteatoma removal at the labyrinthine fistula is a viable option in the preservation of inner ear function and facilitating complete cholesteatoma removal

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value <5×10-9) in 36 loci associated with telomere length, including 20 newly associated loci (13 were replicated in external datasets). There was little evidence of effect size heterogeneity across populations. Fine-mapping at OBFC1 indicated the independent signals colocalized with cell-type specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated our TL polygenic trait scores (PTS) were associated with increased risk of cancer-related phenotypes