The evolving spectrum of complex inherited neuropathies.

Purpose Of Review: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes.

Recent Findings: This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic.

Two successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndrome.

Familial chylomicronemia syndrome (FCS) is a rare inherited disorder characterized by severe hypertriglyceridemia, posing a heightened risk of acute pancreatitis. Recently, Volanesorsen, an APOC3 antisense oligonucleotide, gained approval for FCS treatment in the UK. Caution is advised during pregnancy due to limited safety data, although animal studies show no toxicity/teratogenicity.

Strachan's syndrome and riboflavin deficiency.

Strachan's syndrome comprises a triad of optic, auditory and painful sensory peripheral neuropathy. It has been recognised since the late 19th century and is presumed to result from nutritional deficiency. Patients present acute or subacutely after a period of systemic illness, weight loss or, most commonly, dietary restriction, especially veganism, which can cause riboflavin (vitamin B) and vitamin B deficiencies.

Renal and Urological Disorders Associated With Inflammatory Bowel Disease.

Renal and urinary tract complications related to inflammatory bowel disease (IBD) have been relatively understudied in the literature compared with other extraintestinal manifestations. Presentation of these renal manifestations can be subtle, and their detection is complicated by a lack of clarity regarding the optimal screening and routine monitoring of renal function in IBD patients. Urolithiasis is the most common manifestation.

A national cohort study and confidential enquiry to investigate ethnic disparities in maternal mortality.

Background: Ethnic disparities in maternal mortality were first documented in the UK in the early 2000s but are known to be widening. This project aimed to describe the women who died in the UK during or up to a year after the end of pregnancy, to compare the quality of care received by women from different aggregated ethnic groups, and to identify any structural or cultural biases or discrimination affecting their care.

Methods: National surveillance data was used to identify all 1894 women who died during or up to a year after the end of pregnancy between 2009 and 18 in the UK.

Interprofessional teamwork for managing medical deterioration in pregnancy: what contributes to good clinical performance in simulated practice?

Objectives: To identify the patterns of teamwork displayed by interprofessional teams during simulated management of medical deterioration in pregnancy and examine whether and how they are related to clinical performance in simulated practice.

Design: Exploratory observational cohort study.

Setting: Interprofessional clinical simulation training with scenarios involving the management of medical deterioration in pregnant women.

COVID-19 and maternity care in South East London: shared working and learning initiative.

The SARS-CoV-2 COVID-19 pandemic has had an immediate and profound impact on how healthcare systems organise and deliver services and specifically, there is a disproportionate negative impact on Black, Asian and Minority Ethnic groups and other risk factors. This has required clinical leaders to respond at pace to meet patient's care needs, while supporting staff working in a volatile, uncertain, complex and ambiguous environment. During the initial wave and then the later waves within our South East London sector, there were new challenges as everyone faced a novel disease necessitating real-time learning and reflection.

Infection-related morbidity and mortality among older patients with DLBCL treated with full- or attenuated-dose R-CHOP.

Infection-related morbidity and mortality are increased in older patients with diffuse large B-cell lymphoma (DLBCL) compared with population-matched controls. Key predictive factors for infection-related hospitalization during treatment with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) and deaths as a result of infection in older patients during and after treatment with R-CHOP remain incompletely understood. For this study, 690 consecutively treated patients age 70 years or older who received full-dose or attenuated-dose R-CHOP treatment were analyzed for risk of infection-related hospitalization and infection-related death.

Pharmacological Treatments for Diabetic Foot Disease: Current State and Future Perspectives.

The care of the individual with diabetic foot disease (DFD) represents a significant challenge. In addition to the primary foot pathology, individuals with DFD are frequently compromised by multiple co-existent medical complications. Successful management of DFD, therefore requires simultaneous addressal of these issues alongside high-quality foot care.

Approach to dyspnoea in pregnancy in the COVID-19 era.

Importance: Dyspnoea and hypoxia in pregnant women during the COVID-19 pandemic may be due to causes other than SARS Co-V-2 infection which should not be ignored. Shared decision-making regarding early delivery is paramount.

Objective: To highlight and discuss the differential diagnoses of dyspnoea and hypoxia in pregnant women and to discuss the risks versus benefit of delivery for maternal compromise.

Fatigue in adults with primary antiphospholipid syndrome: findings from a mixed-methods study.

Objective: This study aimed to explore the experience and impact of fatigue in adults with primary antiphospholipid syndrome (pAPS).

Methods: This sequential, explanatory mixed-methods study enrolled adults with a six-month or more history of pAPS. Consenting participants completed the Functional Assessment of Chronic Illness Therapy-Fatigue subscale (FS), Multi-Dimensional Perceived Social Support Scale, Patient Health Questionnaire (PHQ9), Pittsburgh Sleep Quality Index (PSQI), International Physical Activity Questionnaire (IPAQMETS).

Anticoagulation in Concomitant Chronic Kidney Disease and Atrial Fibrillation: JACC Review Topic of the Week.

Atrial fibrillation (AF) and chronic kidney disease (CKD) often coexist as they share multiple risk factors, including hypertension, diabetes mellitus, and coronary artery disease. Although there is irrefutable evidence supporting anticoagulation in AF in the general population, these data may not be transferable to the setting of advanced CKD, where the decision to commence anticoagulation poses a conundrum. In this cohort, there is a progressively increased risk of both ischemic stroke and hemorrhage as renal function declines, complicating the decision to initiate anticoagulation.

An update to the Milk Allergy in Primary Care guideline.

The Milk Allergy in Primary (MAP) Care guideline was first published in 2013 in this journal. MAP aimed to provide simple and accessible algorithms for UK clinicians in primary care, detailing all the steps between initial presentation, through diagnosis, management and tolerance development. Despite its UK focus, it soon became clear that MAP was being accessed internationally and thus an updated International Milk Allergy in Primary Care (iMAP) guideline was published in 2017.

Stand-alone intrathecal central nervous system (CNS) prophylaxis provide unclear benefit in reducing CNS relapse risk in elderly DLBCL patients treated with R-CHOP and is associated increased infection-related toxicity.

Central nervous system (CNS) relapse following R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisolone) occurs in 2-5% of patents with diffuse large B-cell lymphoma (DLBCL). Many patients aged ≥70 years are unsuitable for high-dose methotrexate (HDMTX) prophylaxis and therefore often receive stand-alone intrathecal prophylaxis. The CNS international prognostic index (CNS-IPI) is a clinical CNS relapse risk score that has not specifically been validated in elderly patients.

Intrathecal Immunoglobulin for treatment of adult patients with tetanus: A randomized controlled 2x2 factorial trial.

Despite long-standing availability of an effective vaccine, tetanus remains a significant problem in many countries. Outcome depends on access to mechanical ventilation and intensive care facilities and in settings where these are limited, mortality remains high. Administration of tetanus antitoxin by the intramuscular route is recommended treatment for tetanus, but as the tetanus toxin acts within the central nervous system, it has been suggested that intrathecal administration of antitoxin may be beneficial.

Impact of intended and relative dose intensity of R-CHOP in a large, consecutive cohort of elderly diffuse large B-cell lymphoma patients treated with curative intent: no difference in cumulative incidence of relapse comparing patients by age.

Background: The increasing incidence of diffuse large B-cell lymphoma (DLBCL) in ageing populations places a significant burden on healthcare systems. Co-morbidity, frailty, and reduced organ and physiological reserve contribute to treatment-related complications. The optimal dose intensity of R-CHOP to optimize outcome across different ages with variable frailty and comorbidity burden is unclear.

Can untreated PKU patients escape from intellectual disability? A systematic review.

Background: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability.

3D/2D model-to-image registration by imitation learning for cardiac procedures.

Purpose: In cardiac interventions, such as cardiac resynchronization therapy (CRT), image guidance can be enhanced by involving preoperative models. Multimodality 3D/2D registration for image guidance, however, remains a significant research challenge for fundamentally different image data, i.e.

Ischaemic stroke, haemorrhage, and mortality in older patients with chronic kidney disease newly started on anticoagulation for atrial fibrillation: a population based study from UK primary care.

Objective: To assess the association between anticoagulation, ischaemic stroke, gastrointestinal and cerebral haemorrhage, and all cause mortality in older people with atrial fibrillation and chronic kidney disease.

Design: Propensity matched, population based, retrospective cohort analysis from January 2006 through December 2016.

Setting: The Royal College of General Practitioners Research and Surveillance Centre database population of almost 2.

Correction to: Better recognition, diagnosis and management of non-IgE-mediated cow's milk allergy in infancy: iMAP-an international interpretation of the MAP (Milk Allergy in Primary Care) guideline.

[This corrects the article DOI: 10.1186/s13601-017-0162-y.].

Better recognition, diagnosis and management of non-IgE-mediated cow's milk allergy in infancy: iMAP-an international interpretation of the MAP (Milk Allergy in Primary Care) guideline.

Cow's milk allergy (CMA) is one of the most common presentations of food allergy seen in early childhood. It is also one of the most complex food allergies, being implicated in IgE-mediated food allergy as well as diverse manifestations of non-IgE-mediated food allergy. For example, gastrointestinal CMA may present as food protein induced enteropathy, enterocolitis or proctocolitis.