Molecular and Serological Surveillance for Mycobacterium leprae and Mycobacterium lepromatosis in Wild Red Squirrels (Sciurus vulgaris) from Scotland and Northern England.

Leprosy is a poverty-associated infectious disease in humans caused by Mycobacterium leprae or M. lepromatosis, often resulting in skin and peripheral nerve damage, which remains a significant public health concern in isolated areas of low- and middle-income countries. Previous studies reported leprosy in red squirrels in the British Isles, despite the fact that autochthonous human cases have been absent for centuries in this region. To investigate the extent of M. leprae and M. lepromatosis presence in wild red squirrels in the northern UK, we analyzed 220 blood/body cavity fluid samples from opportunistically sampled red squirrels (2004-2023) for specific antibodies against phenolic glycolipid-I, a cell wall component specific for these leprosy bacilli. Additionally, we assessed bacillus-derived DNA by real-time PCR (qPCR) in 250 pinnae from the same cohort. M. lepromatosis and M. leprae DNA were detected by qPCR in 20.4% and 0.8% of the squirrels, respectively. No cases of co-detection were observed. Detectable levels of anti-PGL-I antibodies by UCP-LFA were observed in 52.9% of animals with the presence of M. lepromatosis determined by qPCR, and overall in 15.5% of all animals. In total, 22.6% (n = 296) of this UK cohort had at least some exposure to leprosy bacilli. Our study shows that leprosy bacilli persist in red squirrels in the northern UK, emphasizing the necessity for ongoing molecular and serological monitoring to study leprosy ecology in red squirrels, gain insight into potential zoonotic transmission, and to determine whether the disease has a conservation impact on this endangered species.

Dialysis and a plant-based diet to achieve physiologic urea levels for fetal benefit: Normal pregnancy outcome despite chronic kidney disease and hypertension.

Chronic kidney disease significantly increases the risk of adverse maternal and perinatal outcomes. A growing body of evidence suggests that intensive dialysis, achieving physiologic pre-dialysis blood urea, is associated with decreased morbidity. We report a case of a successful pregnancy outcome in a 32-year-old nulliparous woman with stage 4 chronic kidney disease who underwent haemodialysis from 11 to 31 weeks' gestation for fetal benefit and concurrently trialled a plant-based diet. We hypothesise that her dietary changes assisted with urea reduction, enabling her to become dialysis independent. Although we must recognise that such pregnancies remain high risk, as demonstrated both in this case and more recent literature, advances in complex obstetric care and dialysis protocols may now give women with chronic kidney disease a realistic hope of a successful pregnancy.

Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.

Fetal arthrogryposis is a well-recognised ultrasonographic phenotype, caused by both genetic, maternal and extrinsic factors. When present with fetal growth restriction, pulmonary hypoplasia and multiple joint contractures, it is often referred to as fetal akinesia deformation sequence (FADS). Historically, elucidating genetic causes of arthryogryposis/FADS has been challenging; there are now more than 150 genes known to cause arthrogryposis through myopathic, neuromuscular and metabolic pathways affecting fetal movement. FADS is associated with over 400 medical conditions making prenatal diagnosis challenging. Here we present a case of FADS diagnosed at 19 weeks gestation with progression to severe fetal hydrops and stillbirth at 26-weeks gestation. Initial investigations including combined first trimester screening, TORCH (infection) screen and chromosomal microarray were normal. Trio whole exome sequencing (WES) detected compound heterozygous likely pathogenic CACNA1S gene variants associated with autosomal dominant (AD) and autosomal recessive (AR) congenital myopathy and FADS. To our knowledge, this is the first prenatal diagnosis of this condition.

A prospective cohort study comparing neonatal outcomes of waterbirth and land birth in an Australian tertiary maternity unit.

BACKGROUND: Maternal preference for warm water immersion (WWI) and waterbirth is increasing, but adoption into obstetric guidelines and clinical practice remains limited. Concerns regarding safety and a paucity of evidence have been cited as reasons for the limited adoption and uptake. AIM: The aim was to investigate maternal and neonatal outcomes after WWI and/or waterbirth compared with land birth. MATERIALS AND METHODS: A prospective cohort study was conducted in an Australian public maternity hospital between 2019 and 2020. Maternal and neonatal outcomes for 1665 women who had a vaginal birth were studied. Primary outcome was admission to the neonatal unit (NNU). Secondary outcomes included neonatal antibiotic administration, maternal intrapartum fever, epidural use and perineal injury. Multivariate logistical regression analyses compared the outcomes between three groups: waterbirth, WWI only and land birth. RESULTS: NNU admissions for a suspected infectious condition were significantly higher in the land birth group (P = 0.035). After accounting for labour duration, epidural use and previous birth mode, no significant difference was detected between groups in the odds of NNU admission (P = 0.167). No babies were admitted to NNU with water inhalation or drowning. Women birthing on land were more likely to be febrile (2 vs 0%; P = 0.007); obstetric anal sphincter injury and postpartum haemorrhage were similar between groups. Regional analgesia use was significantly lower in the WWI group compared to the land birth group (21.02 vs 38.58%; P = <0.001). There was one cord avulsion in the waterbirth group (0.41%). CONCLUSION: Maternal and neonatal outcomes were similar between groups, with no increased risk evident in the waterbirth and WWI groups.