Maternal folic acid supplementation and the risk of ankyloglossia (tongue-tie) in infants; a systematic review.

BACKGROUND: Maternal folic acid supplementation is protective against the development of neural tube defects (NTDs) in babies. However, recent public-facing communications have raised concerns about a causal relationship between folic acid supplementation, particularly after the first trimester, and ankyloglossia (tongue-tie) in infants. Non-evidence-based communications are potentially harmful because they could adversely affect adherence to folic acid supplementation, increasing NTD occurrence. This study aimed to review evidence on the relationships between maternal folic acid supplementation during preconception and/or pregnancy and the risk of ankyloglossia in infants. METHODS: We searched the databases MEDLINE, EMBASE, Cochrane CENTRAL, and Scopus. We searched for observational, and interventional studies, and systematic reviews investigating the effect of maternal folic acid supplementation during preconception or pregnancy on the occurrence of ankyloglossia in offspring. The search was registered on PROSPERO on 01/12/2022, ID: CRD42022375862. RESULTS: The database searches yielded 93 articles. After removing duplicates and screening titles and abstracts, 26 remained. One article was judged relevant for inclusion in analyses; a case-control study that directly mentions the relationship between folic acid supplementation and ankyloglossia. This study reported that regular intake of folic acid supplements was higher in women with infants with ankyloglossia. However, this study has limitations regarding design, selection bias, and confounding, calling the findings into question. CONCLUSIONS: Insufficient evidence exists for a relationship between folic acid supplementation and ankyloglossia. Currently, the benefits of folic acid supplementation far outweigh the risks. This must be clearly communicated to patients by their clinicians during preconception and antenatal care.

Efficacy and safety of aclidinium/formoterol versus monotherapies and aclidinium versus placebo in Chinese and other Asian patients with moderate-to-severe COPD: The AVANT Phase 3 study.

AVANT was a Phase 3, 24-week, randomized, parallel-group, double-blind, double-dummy, placebo-controlled study to assess the efficacy and safety of aclidinium/formoterol 400 µg/12 µg combination vs monotherapies and aclidinium vs placebo (1:1:1:1) in Asian patients (∼70% of whom were Chinese) with moderate-to-severe stable chronic obstructive pulmonary disease. Endpoints were analyzed hierarchically to incorporate type I error control. At Week 24, aclidinium/formoterol demonstrated improvements from baseline in 1-h morning post-dose forced expiratory volume in 1 s (FEV1) vs aclidinium (least squares [LS] mean 92 mL; 95% confidence interval [CI] 60, 124 mL; p < 0.001), and in trough FEV1 vs formoterol (LS mean 85 mL; 95% CI 53, 117 mL; p < 0.001). Furthermore, aclidinium provided improvements in trough FEV1 vs placebo (LS mean 134 mL; 95% CI 103, 166 mL; p < 0.001). There was an improvement in transition dyspnea index focal score at Week 24 for aclidinium/formoterol vs placebo (LS mean 0.8; 95% CI 0.2, 1.3; p = 0.005) but not for aclidinium vs placebo (LS mean 0.4; 95% CI -0.1, 1.0; p = 0.132). Improvements in St George's Respiratory Questionnaire total scores occurred for aclidinium/formoterol vs placebo (LS mean -4.0; 95% CI -6.7, -1.4; p = 0.003) and aclidinium vs placebo (LS mean -2.9; 95% CI -5.5, -0.3; p = 0.031). Aclidinium/formoterol and aclidinium were well tolerated and safety findings were consistent with known profiles; rates of treatment-emergent adverse events (AEs) (aclidinium/formoterol: 54.8%; aclidinium: 47.4%; placebo: 53.9%), serious AEs (7.2, 7.9, and 7.8%, respectively), and AEs leading to discontinuation of study medication (2.3, 1.5, and 2.2%, respectively) were similar between groups.

Eruptive Acral Nevi Secondary to Treatment With Chemotherapy.

This case report describes an eruption of junctional nevi on the dorsum of both feet.

Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review.

Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain barrier; Intrathecal ERT, in clinical studies, did not demonstrate significant effect on cognition, despite having better CNS delivery. Hematopoietic stem cell transplantation (HSCT) has the potential to treat CNS disease. We reviewed the literature and outline our experience of treating two siblings with severe Hunter syndrome: 'Sibling A' with intravenous and intrathecal ERT and 'Sibling B' with Early HSCT. A literature review identified 8 articles reporting on the comparative efficacy of both treatments. Our clinical outcomes indicate that Sibling B performed better than Sibling A in relation to early developmental milestones as well as neurocognition, activities of daily living, quality of life and neurophysiological outcomes in mid childhood. Sibling A's developmental trajectory fell within the extremely low range and Sibling B's development trajectory fell within the low-average to average range. This suggests HSCT had a disease modifying effect and highlights the efficacy of early HSCT in moderating the CNS progression in Hunter syndrome. Long term follow up is needed to elucidate the efficacy of HSCT on neurological progression.

Deficit irrigation impacts on greenhouse gas emissions under drip-fertigated maize in the Great Plains of Colorado.

Precise water and fertilizer application can increase crop water productivity and reduce agricultural contributions to greenhouse gas (GHG) emissions. Regulated deficit irrigation (DI) and drip fertigation control the amount, location, and timing of water and nutrient application. Yet, few studies have measured GHG emissions under these practices, especially for maize (Zea mays L.). The objective was to quantify N2 O and CO2 emission from DI and full irrigation (FI) within a drip-fertigated maize system in northeastern Colorado. During two growing seasons of measurement, treatments consisted of mild, moderate, and extreme DI and FI. Deficit irrigation was managed based on growth stage so that full evapotranspiration (ET) was met during the yield-sensitive reproductive stage, but less than full crop ET was applied during the late vegetative and maturation growth stages. In the first year, mild DI (90% ET) reduced N2 O emissions by 50% compared with FI. In the second year, compared with FI, moderate DI (69-80% ET) reduced N2 O emissions by 15%, and extreme DI (54-68% ET) reduced N2 O emissions by 40%. Only extreme DI in the second year significantly reduced CO2 emissions (by 30%) compared with FI. Mild DI reduced yield-scaled emissions in the first year, but moderate and extreme DI had similar yield-scaled emissions as FI in the second year. The surface drip fertigation resulted in total GHG emissions that were one-tenth of literature-based measurements from sprinkler-irrigated maize systems. This study illustrates the potential of DI and drip fertigation to reduce N2 O and CO2 emissions in irrigated cropping systems.

Targeting the PI3K/AKT/mTOR pathway in epithelial ovarian cancer, therapeutic treatment options for platinum-resistant ovarian cancer.

The survival rates for women with ovarian cancer have shown scant improvement in recent years, with a 5-year survival rate of less than 40% for women diagnosed with advanced ovarian cancer. High-grade serous ovarian cancer (HGSOC) is the most lethal subtype where the majority of women develop recurrent disease and chemotherapy resistance, despite over 70%-80% of patients initially responding to platinum-based chemotherapy. The phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) signaling pathway regulates many vital processes such as cell growth, survival and metabolism. However, this pathway is frequently dysregulated in cancers including different subtypes of ovarian cancer, through amplification or somatic mutations of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), amplification of AKT isoforms, or deletion or inactivation of PTEN. Further evidence indicates a role for the PI3K/AKT/mTOR pathway in the development of chemotherapy resistance in ovarian cancer. Thus, targeting key nodes of the PI3K/AKT/mTOR pathway is a potential therapeutic prospect. In this review, we outline dysregulation of PI3K signaling in ovarian cancer, with a particular emphasis on HGSOC and platinum-resistant disease. We review pre-clinical evidence for inhibitors of the main components of the PI3K pathway and highlight past, current and upcoming trials in ovarian cancers for different inhibitors of the pathway. Whilst no inhibitors of the PI3K/AKT/mTOR pathway have thus far advanced to the clinic for the treatment of ovarian cancer, several promising compounds which have the potential to restore platinum sensitivity and improve clinical outcomes for patients are under evaluation and in various phases of clinical trials.

A Low-Cost Perfusate Alternative for Ex Vivo Lung Perfusion.

BACKGROUND: Normothermic ex vivo lung perfusion (EVLP) has been used successfully to evaluate and recondition marginal donor lungs; however, multiple barriers continue to prevent its widespread adoption. We sought to develop a common hospital ingredient-derived perfusate (CHIP) with equivalent functional and inflammatory characteristics to a standard Krebs-Henseleit buffer with 8% serum albumin-derived perfusate (KHB-Alb) to improve access and reduce costs of ex vivo organ perfusion. METHODS: Sixteen porcine lungs were perfused using negative pressure ventilation (NPV) EVLP for 12 hours in a normothermic state and were allocated equally to 2 groups: KHB-Alb vs CHIP. Physiological parameters, cytokine profiles, and edema formation were compared between treatment groups. RESULTS: Perfused lungs in both groups demonstrated equivalent oxygenation (partial pressure of arterial oxygen/fraction of inspired oxygen ratio >350 mm Hg) and physiological parameters. There was equivalent generation of tumor necrosis factor-α and IL-6, irrespective of perfusate solution used, when comparing CHIP vs KHB-Alb. Pig lungs developed equivalent edema formation between groups (CHIP: 15.8 ± 4.8%, KHB-Alb 19.5 ± 4.4%, P > .05). CONCLUSION: A perfusate derived of common hospital ingredients provides equivalent results to a standard Krebs-Henseleit buffer with 8% serum albumin-based perfusate in NPV-EVLP.

Analysis of macrophages and neutrophils infiltrating murine mammary carcinoma sites within hours of tumor delivery.

Here we used three different murine mammary carcinomas to study the immune environment associated with early tumor sites. While it was not surprising that the early immune response was predominated by macrophages and neutrophils, there were some novel findings at this early stage of disease. For instance, the macrophages and neutrophils expressed a mixed cytokine profile with TNF-α and TGF-ß both produced at appreciable levels. Moreover, while the cells retained their phagocytic capacity, production of reactive oxygen species by the macrophages and neutrophils was in decline. Alterations in the metabolic profile of the tumor associated macrophages were also evident with a decrease in the ATP production rate, and a higher dependence on oxidative phosphorylation for ATP production. Collectively, these data indicate a mixed phenotype of tumor-associated macrophages and neutrophils evident within hours of murine mammary carcinoma delivery.

Management controls the net greenhouse gas outcomes of growing bioenergy feedstocks on marginally productive croplands.

Bio-based energy is key to developing a globally sustainable low-carbon economy. Lignocellulosic feedstock production on marginally productive croplands is expected to provide substantial climate mitigation benefits, but long-term field research comparing greenhouse gas (GHG) outcomes during the production of annual versus perennial crop-based feedstocks is lacking. Here, we show that long-term (16 years) switchgrass (Panicum virgatum L.) systems mitigate GHG emissions during the feedstock production phase compared to GHG-neutral continuous corn (Zea mays L.) under conservation management on marginally productive cropland. Increased soil organic carbon was the major GHG sink in all feedstock systems, but net agronomic GHG outcomes hinged on soil nitrous oxide emissions controlled by nitrogen (N) fertilizer rate. This long-term field study is the first to demonstrate that annual crop and perennial grass systems respectively maintain or mitigate atmospheric GHG contributions during the agronomic phase of bioenergy production, providing flexibility for land-use decisions on marginally productive croplands.

Analysis of the risk of infection in patients with chronic lymphocytic leukemia in the era of novel therapies.

We studied the risk of infections in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL). Major infections were defined as requiring hospital admission or intravenous antimicrobial treatment. Incidence rate (IR) ratios (IRR) were used to compare infection rates. Of 263 CLL patients followed for 936.9 person-years, 60% required treatment for progressive CLL (66 received ibrutinib). Infections occurred in 71.9% patients (IR 92.4/100 person-years) with 31.9% having major infections (IR 20.3/100 person-years) and infections causing 37.5% of deaths. CLL treatment was associated with significantly higher risk of major (IRR 3.31, 95% CI 2.10, 5.21) and minor (IRR 1.78, 95% CI 1.43, 2.22) infections. Compared to their previous chemoimmunotherapy patients receiving salvage ibrutinib therapy (n = 47) had a significantly increased risk of a major infection (IRR 2.35 95% CI 1.27, 4.34). The risk of infection in CLL patients remains high even with use of less immunosuppressive therapies.

Cancer-related health behaviours of young people not in education, employment or training ('NEET'): a cross-sectional study.

BACKGROUND: Links between participating in unhealthy behaviours, e.g. smoking, and an increased risk of developing some cancers are well established. Unemployed adults are more likely to participate in cancer-related health behaviours than their employed counterparts. However, evidence of whether this is true in young adults not in education, employment or training (NEET) compared to their 'non-NEET' peers is either limited or inconclusive. Using cross-sectional health data from across the UK, this study aims to investigate whether participation in cancer-related health behaviours varies by NEET status. METHODS: Data for 16-24 year olds were extracted from the 2010-12 Health Surveys for England (HSE) and Scottish Health Surveys (SHeS). Information on economic activity in the last week was used to determine NEET status. Data on whether respondents had been seeking employment within the last four weeks and availability to start within the next two weeks allowed NEETs to be further identified as unemployed (UE) or economically inactive (EI). Logistic regression modelled the effect of being NEET on odds of being a current smoker; heavy drinker; not participating in sport; having eaten less than five portions of fruit or vegetables the day before survey interview and having an unhealthy body mass index (BMI). Analyses were performed before and after exclusion of EI NEETs. RESULTS: Data were extracted for 4272 individuals, of which 715 (17%) were defined as NEET with 371 (52%) and 342 (48%) further classified as UE and EI respectively. Two NEETs could not be further defined as UE or EI due to missing information. Relative to non-NEETs, NEETs were significantly more likely to be current smokers, not participate in sport and have an 'unhealthy' BMI. These results held after adjustment for socio-demographic characteristics both before and after exclusion of EI NEETs. Before exclusion of EI NEETs, NEETs were significantly less likely to be heavy drinkers than non-NEETs. There was no significant difference in likelihood of heavy drinking between NEETs and non-NEETs when excluding EI NEETs. CONCLUSIONS: NEETs were generally at an increased risk of participating in cancer-related health behaviours than non-NEETs. As the likelihood of becoming NEET is greater in socioeconomically-disadvantaged groups, interventions to discourage unhealthy behaviours in NEETs may contribute to a reduction in health inequalities.

Manure and Inorganic Nitrogen Affect Trace Gas Emissions under Semi-Arid Irrigated Corn.

Dairy manure is often applied to cropped soils as a substitute for inorganic N fertilizers, but the impacts of manure on soil trace gas fluxes, yields, and soil N are uncertain in the semiarid western United States. Soil carbon dioxide (CO-C), methane (CH-C), nitrous oxide (NO-N), and ammonia (NH-N) emissions were monitored using surface chambers from five N treatments: (i) partially composted solid dairy manure (DM) (412 kg N ha), (ii) DM + AgrotainPlus (DM+AP), (iii) enhanced efficiency N fertilizer (SuperU [SU]) (179 kg N ha), (iv) urea (179 kg N ha), and (v) check (no N applied), to determine their effect on growing season (GS) and nongrowing season emissions from a tilled clay loam soil under irrigated, continuous corn production for 3 yr. SuperU and AgrotainPlus contain urease and nitrification inhibitors. Averaged over years, GS soil CO-C emissions were greater for DM and DM+AP than for urea, SU, and check treatments due to the large amount of C added with the manure; CH-C emissions did not vary among N treatments; and NO-N emissions decreased in the order urea = DM = DM+AP > SU > check. AgrotainPlus added to the DM did not reduce NO-N emissions compared with DM. Cumulative NH-N emissions after manure application decreased in the order urea > SU > check, with no significant differences between SU, DM, and DM+AP. Dairy manure provided slow-release N with nitrate intensities lower than urea and NO-N emissions similar to urea. These results highlight the importance of best-management practices such as immediate irrigation after N application and use of urease and nitrification inhibitors to minimize N losses.

Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review.

Very long-chain acyl-coenzyme A dehydrongenase deficiency (VLCADD) is a rare disorder of fatty acid metabolism that renders sufferers susceptible to hypoglycemia, liver failure, cardiomyopathy, and rhabdomyolysis. The literature about the management of these patients is hugely conflicting, suggesting that both propofol and volatile anesthesia should be avoided. We have reviewed the literature and have concluded that the source papers do not support the statements that volatile anesthetic agents are unsafe. The reports on rhabdomyolysis secondary to anesthesia appear to be due to inadequate supply of carbohydrate not volatile agents. Catabolism must be avoided with minimal fasting, glucose infusions based on age and weight, and attenuation of emotional and physical stress. General anesthesia appears to be protective of stress-induced catabolism and may offer benefits in children and anxious patients over regional anesthesia. Propofol has not been demonstrated to be harmful in VLCADD but is presented in an emulsion containing very long-chain fatty acids which can cause organ lipidosis and itself can inhibit mitochondrial fatty acid metabolism. It is therefore not recommended. Suxamethonium-induced myalgia may mimic symptoms of rhabdomyolysis and cause raised CK therefore should be avoided. Opioids, NSAIDS, regional anesthesia, and local anesthetic techniques have all been used without complication.

Assessment of best single sample for finding chlamydia in women with and without symptoms: a diagnostic test study.

OBJECTIVE: To compare vulvovaginal swabs with endocervical swabs as optimal diagnostic sample for detection of Chlamydia trachomatis infection. DESIGN: A diagnostic test study. SETTING: An urban sexual health centre. PARTICIPANTS: 3973 women aged ≥ 16 years requesting testing for sexually transmitted infections. INTERVENTIONS: Participants took a vulvovaginal swab before routine examination, and clinicians took an endocervical swab during examination. MAIN OUTCOME MEASURE: Diagnosis of chlamydia infection with samples analysed using the Aptima Combo-2 assay; positive results confirmed with the Aptima CT assay. RESULTS: Of the 3973 participants, 410 (10.3%) were infected with C trachomatis. Infected women were significantly younger (22 v 25 years, P<0.0001) and more likely to have symptoms suggestive of a bacterial sexually transmitted infection (53% v 41%, odds ratio 1.63 (95% CI 1.30 to 2.04)), be a contact of someone with a sexually transmitted infection (25% v 5%, odds ratio 6.18 (4.61 to 8.30)), clinically diagnosed with cervicitis (17% v 4%, odds ratio 4.92 (3.50 to 6.91)), and have pelvic inflammatory disease (9% v 3%, odds ratio 2.85 (1.87 to 4.33)). When women co-infected with gonorrhoea were included in the analysis, there was an association with mixed ethnicity (10% v 7%, odds ratio 1.53 (1.07 to 2.17)); but when those with gonorrhoea were removed, women of white ethnicity were significantly more likely to have chlamydia (85% v 80%, odds ratio 1.40 (1.03 to 1.91)). On analysis of complete paired results, vulvovaginal swabs were significantly more sensitive than endocervical swabs (97% (95% CI 95% to 98%) v 88% (85% to 91%), P<0.00001); corresponding specificities were 99.9% and 100%. In women with symptoms suggestive of a bacterial sexually transmitted infection, vulvovaginal swabs were significantly more sensitive than endocervical swabs (97% (93% to 98%) v 88% (83% to 92%), P=0.0008), as they were in women without symptoms (97% (94% to 99%) v 89% (84% to 93%), P=0.002). CONCLUSIONS: Vulvovaginal swabs are significantly better than endocervical swabs at detecting chlamydia in women with and without symptoms suggestive of sexually transmitted infections. In those with symptoms, using endocervical samples rather than vulvovaginal swabs would have missed 9% of infections, or 1 in every 11 cases of chlamydia. TRIAL REGISTRATION: ISRCTN42867448.

Assessment of self taken swabs versus clinician taken swab cultures for diagnosing gonorrhoea in women: single centre, diagnostic accuracy study.

OBJECTIVE: To compare gonorrhoea detection by self taken vulvovaginal swabs (tested with nucleic acid amplification tests) with the culture of urethral and endocervical samples taken by clinicians. DESIGN: Prospective study of diagnostic accuracy. SETTING: 1 sexual health clinic in an urban setting (Leeds Centre for Sexual Health, United Kingdom), between March 2009 and January 2010. PARTICIPANTS: Women aged 16 years or older, attending the clinic for sexually transmitted infection (STI) testing and consenting to perform a vulvovaginal swab themselves before routine examination. During examination, clinicians took urethral and endocervical samples for culture and an endocervical swab for nucleic acid amplification testing. INTERVENTIONS: Urethra and endocervix samples were analysed by gonococcal culture. Vulvovaginal swabs and endocervical swabs were analysed by the Aptima Combo 2 (AC2) assay; positive results from this assay were confirmed with a second nucleic acid amplification test. MAIN OUTCOME MEASURES: Positive confirmation of gonorrhoea. RESULTS: Of 3859 women with complete data and test results, 96 (2.5%) were infected with gonorrhoea (overall test sensitivities: culture 81%, endocervical swabs with AC2 96%, vulvovaginal swabs with AC2 99%). The AC2 assays were more sensitive than culture (P<0.001), but the endocervical and vulvovaginal assays did not differ significantly (P=0.375). Specificity of all Aptima Combo 2 tests was 100%. Of 1625 women who had symptoms suggestive of a bacterial STI, 56 (3.4%) had gonorrhoea (culture 84%, endocervical AC2 100%, vulvovaginal AC2 100%). The AC2 assays were more sensitive than culture (P=0.004), and the endocervical and vulvovaginal assays were equivalent to each other. Of 2234 women who did not have symptoms suggesting a bacterial STI, 40 (1.8%) had gonorrhoea (culture 78%, endocervical AC2 90%, vulvovaginal AC2 98%). The vulvovaginal swab was more sensitive than culture (P=0.008), but there was no difference between the endocervical and vulvovaginal AC2 assays (P=0.375) or between the endocervical AC2 assay and culture (P=0.125). The endocervical swab assay performed less well in women without symptoms of a bacterial STI than in those with symptoms (90% v 100%, P=0.028), whereas the vulvovaginal swab assay performed similarly (98% v 100%, P=0.42). CONCLUSION: Self taken vulvovaginal swabs analysed by nucleic acid amplification tests are significantly more sensitive at detecting gonorrhoea than culture of clinician taken urethral and endocervical samples, and are equivalent to endocervical swabs analysed by nucleic acid amplification tests. Self taken vulvovaginal swabs are the sample of choice in women without symptoms and have the advantage of being non-invasive. In women who need a clinical examination, either a clinician taken or self taken vulvovaginal swab is recommended.

Biochar and nitrogen fertilizer alters soil nitrogen dynamics and greenhouse gas fluxes from two temperate soils.

Biochar (BC) application to agricultural soils could potentially sequester recalcitrant C, increase N retention, increase water holding capacity, and decrease greenhouse gas (GHG) emissions. Biochar addition to soils can alter soil N cycling and in some cases decrease extractable mineral N (NO and NH) and NO emissions. These benefits are not uniformly observed across varying soil types, N fertilization, and BC properties. To determine the effects of BC addition on N retention and GHG flux, we added two sizes (>250 and <250 µm) of oak-derived BC (10% w/w) to two soils (aridic Argiustoll and aquic Haplustoll) with and without N fertilizer and measured extractable NO and NH and GHG efflux (NO, CO, and CH) in a 123-d laboratory incubation. Biochar had no effect on NO, NH, or NO in the unfertilized treatments of either soil. Biochar decreased cumulative extractable NO in N fertilized treatments by 8% but had mixed effects on NH. Greenhouse gas efflux differed substantially between the two soils, but generally with N fertilizer BC addition decreased NO 3 to 60%, increased CO 10 to 21%, and increased CH emissions 5 to 72%. Soil pH and total treatment N (soil + fertilizer + BC) predicted soil NO flux well across these two different soils. Expressed as CO equivalents, BC significantly reduced GHG emissions only in the N-fertilized silt loam by decreasing NO flux. In unfertilized soils, CO was the dominant GHG component, and the direction of the flux was mediated by positive or negative BC effects on soil CO flux. On the basis of our data, the use of BC appears to be an effective management strategy to reduce N leaching and GHG emissions, particularly in neutral to acidic soils with high N content.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

UNLABELLED: Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. TAKE-HOME MESSAGE: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.