Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.

Venous thromboembolism in pregnant obese Individuals.

Venous thrombosis and thromboembolism (VTE) remain the leading cause of direct maternal deaths, occurring within 42 days of the end of pregnancy in the UK. Pregnancy is associated with an overall 10-fold higher incidence of VTE than in the non-pregnant state and has been reported to reach up to 30-fold higher in the puerperium. This increased risk is further exacerbated by maternal obesity in a relationship that appears to be proportional with increasing Body Mass Index (BMI). Maternal obesity is the most common health problem in women of reproductive age with clinically significant health risks to women during pregnancy and after delivery. It is associated with poor perinatal and maternal outcomes, The incidence of maternal obesity has increased significantly worldwide over the last few decades and increasingly, pregnancy is being complicated by extreme or morbid obesity. In this review we discuss the challenges associated with the diagnosis and management of VTE in obese pregnant women and provide a review of the available current evidence.

Managing Labour in Women with COVID-19.

Since first reported in December 2019 in Wuhan, China, COVID-19 caused by Severe Acute Respiratory Syndrome (SARS) Corona virus2 (SARS CoV-2) quickly spread to become a pandemic that has caused significant morbidity and mortality. The rapidity of the spread of the virus and the high mortality at the outset threatened to overwhelm health systems worldwide, and, indeed, this significantly impacted maternal health, especially since there was minimal experience to draw from. Experience with Covid 19 has grown exponentially as the unique needs of pregnant and labouring women with COVID-19 infection have become more evident. Managing COVID-19 parturients requires a multidisciplinary team consisting of anaesthesiologists, obstetricians, neonatologists, nursing staff, critical care staff, infectious disease and infection control experts. There should be a clear policy on triaging patients depending on the severity of their condition and the stage of labour. Those at high risk of respiratory failure should be managed in a tertiary referral centre with facilities for intensive care and assisted respiration. Staff and patients in delivery suites and operating rooms should be protected by enforcing infection protection principles such as offering dedicated rooms and theatres to SARS CoV-2 positive patients and using personal protective equipment. All hospital staff must be trained in infection control measures which should be updated regularly. Breastfeeding and care of the new-born must be part of the healthcare package offered to COVID-19 parturient mothers.

Male circumcision for prevention of homosexual acquisition of HIV in men.

BACKGROUND: Previous systematic reviews found inconsistent effects of male circumcision on HIV acquisition in men who have sex with men (MSM). However, a number of new studies have become available in the three years since the last systematic review. OBJECTIVES: To assess the effects of male circumcision for preventing HIV acquisition by men through sex with men. SEARCH STRATEGY: In June 2010 we electronically searched the Cochrane Central Register of Controlled Trials, PubMed, EMBASE, AIDS Education Global Information System, ClinicalTrials.gov, and WHO International Clinical Trials Registry Platform; hand-searched reference lists of relevant articles; and contacted relevant organisations and experts. We updated the search in March 2011. SELECTION CRITERIA: We looked for randomised controlled trials (RCTs) and observational studies that assessed the effects of male circumcision on HIV acquisition in MSM. DATA COLLECTION AND ANALYSIS: Two authors independently assessed study eligibility and methodological quality, and extracted data. We expressed study results as odds ratios (OR) with 95% confidence intervals (CI), and conducted random-effects meta-analysis. MAIN RESULTS: We found no completed RCT and included 21 observational studies with 71,693 participants. The only eligible RCT is currently ongoing among MSM in China. The pooled effect estimate for HIV acquisition was not statistically significant (20 studies; 65,784 participants; OR 0.86, 95% CI 0.70 to 1.06) and showed significant heterogeneity (I²=53%). In a subgroup analysis, the results were statistically significant in studies of men reporting an insertive role (7 studies, 3465 participants; OR 0.27, 95% CI 0.17 to 0.44; I²=0%) but not in studies of men reporting a receptive role (3 studies, 1792 participants; OR 1.20, 95% CI 0.63 to 2.29; I² = 0%). There was no significant association between male circumcision and syphilis (8 studies; 34,999 participants: OR 0.96, 95% CI 0.82 to 1.13; I² = 0%), herpes simplex virus 1 (2 studies, 2740 participants; OR 0.90, 95% CI 0.53 to 1.52; I²=0%), or herpes simplex virus 2 (5 studies;10,285 participants; OR 0.86, 95% CI 0.62 to 1.21; I²=0%). The overall GRADE quality of evidence was low. None of the included studies assessed adverse effects associated with male circumcision. AUTHORS' CONCLUSIONS: Current evidence suggests that male circumcision may be protective among MSM who practice primarily insertive anal sex, but the role of male circumcision overall in the prevention of HIV and other sexually transmitted infections among MSM remains to be determined. Therefore, there is not enough evidence to recommend male circumcision for HIV prevention among MSM at present. Further research should be of high quality and further explore interaction with the predominant sexual role.

Cytomegalovirus infection in pregnancy - An update.

Cytomegalovirus (CMV) is a ubiquitous DNA virus with a global seroprevalence of 83 %. It is the most common pathogen causing teratogenic congenital infection. It is therefore a major public health concern. Maternal infection is associated with congenital CMV (cCMV), the leading cause of non-genetic sensorineural hearing loss. cCMV also causes impairment of cognitive development and cerebral palsy. Transmission of CMV occurs through direct contact with bodily fluids such as saliva, urine or semen from someone who is actively shedding the virus. Transmission rates are higher after primary infection with the rate of transmission increasing with gestational age. Severe fetal effects are however more common when infection occurs before 20weeks. Past infection does not confer immunity to mother or protect the fetus. cCMV may present with cerebral or extracerebral abnormalities on ultrasound, fetal growth restriction and fetal loss. Diagnosis of primary maternal CMV in pregnancy should be based on seroconversion in pregnancy (de novo appearance of virus-specific immunoglobulin G (IgG) in the serum of pregnant women who were previously seronegative) or on detection of specific immunoglobulin M (IgM) and IgG antibodies in association with low IgG avidity. Prenatal diagnosis of fetal CMV is imperfect and based on amniocentesis performed at least 8 weeks after presumed maternal infection and after 17 weeks of gestation. Hygiene information and education of pregnant women is currently the most effective strategy for prevention of CMV infection. The role of vaccines, antiviral drugs and immunoglobulins remains unproven.

Human papillomavirus (HPV) in pregnancy - An update.

Human papilloma viruses (HPV) are small epitheliotropic DNA viruses, of which there are 200 genotypes, 40 of which are known to cause genital infections and are also oncogenic. HPV is the most common sexually transmitted infection. Clinical features vary from asymptomatic (identified at routine cervical cancer screening) to large lesions on the vulva, vagina, cervix and some extragenital sites. Its prevalence in pregnancy varies from 5.5% to 65% depending on age, geography and gestational age (increasing with gestational age). Infection in pregnancy has been associated with adverse outcomes such as spontaneous miscarriage, preterm birth, placental abnormalities and fetal growth restriction. However, the evidence for these adverse outcomes is varied. Besides being oncogenic (and thus associated with cancer of the cervix in pregnancy), vertical transmission to the fetus/neonate can cause neonatal infections, especially juvenile-onset recurrent oral and respiratory papillomatosis (JORRP). Where there are very large lesions on the vulva, delivery may be obstructed. Diagnosis in pregnancy is mainly by viral PCR or from the clinical appearance of the characteristic lesions on the vulva. Treatment is local by either surgical or laser excision or application of trichloroacetic acid. Podophyllin/podophyllotoxin is contraindicated in pregnancy. HPV Infection is not an indication for caesarean delivery as this has not been shown to prevent vertical transmission. For those diagnosed at routine cervical cancer screening, management should follow guidelines for cervical cancer screening in pregnancy. Vaccination is currently not recommended for pregnant women, although studies on those inadvertently vaccinated in pregnancy have not shown any adverse effects on either the fetus or mother.