Receiving screened donor human milk for their infant supports parental wellbeing: a mixed-methods study.

BACKGROUND: Access to donor human milk (DHM) has primarily been based on the health and development outcomes of premature infants but there has been little examination of the broader impact of an infant receiving it upon parental mental health. Breastfeeding and mental health are closely tied with women who experience breastfeeding difficulties or are unable to meet their own breastfeeding goals often experiencing feelings of guilt, sadness and anger, alongside an increased risk of postnatal depression. The aim of the current study was to explore how experience of receiving DHM for their baby affected the wellbeing of parents. METHODS: UK parents of infants aged 0 - 12 months who had received screened DHM from a milk bank (typically on the neonatal unit or in some cases in the community) completed an online questionnaire exploring their experiences. The questionnaire included Likert scale items examining perceived impact upon infant health, own wellbeing and family functioning alongside open-ended questions exploring perceptions of how receiving DHM affected wellbeing. RESULTS: Almost all of the 107 participants (women = 102) agreed that receiving DHM had a positive impact upon infant health and development, their own mental and physical health, and their family's wellbeing. Parents felt relieved that their infant was receiving DHM for health reasons but also due to the experience of being listened to, supported and having their infant feeding decisions facilitated. Receiving DHM helped mothers to process some of their emotions at not being able to breastfeed, in part because knowing their baby was being fed gave them the space to focus on recovery and bonding with their baby. Some parents did experience challenges, feeling guilty at receiving DHM, insecure that another woman was able to feed their baby when they could not, or negative reactions from family. Although the impact of receiving DHM upon breastfeeding was not measured, some women who were working to build their own milk supply noted that it helped motivate them to continue. CONCLUSIONS: DHM may play an important role not only in protecting infant health and development but in supporting the mental health and wellbeing of mothers for whom their infant receiving human milk is important.

Stickler syndrome - lessons from a national cohort.

In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families. Using a combination of accurate phenotyping and molecular genetic analysis it is possible to identify the underlying genetic mutation in over 95% of cases including those with deep intronic mutations likely to be missed by conventional exome panel analysis and which require whole gene sequencing and supplementary functional analysis to confirm pathogenicity. The vast majority that presents to ophthalmologists will be from one of three autosomal dominant sub-groups with a high associated risk of retinal detachment but the diagnosis is often overlooked, especially in adults. In contrast to many other blinding retinal conditions, blindness through giant retinal tear detachment particularly in children is largely preventable provided these high-risk groups are identified and appropriate evidence-based prophylaxis offered. This article summarises ten selected briefcase histories from the national dataset with key learning points from each.

Eosinophilic fasciitis: experience with a patient and review of the potential mimics.

Bilateral lower limb swelling is a common clinical scenario with a wide differential diagnosis. We present a young man with gradually worsening bilateral leg swelling, who was diagnosed with eosinophilic fasciitis. A 20 year old Hispanic male presented with a six week history of bilateral lower limb pain and swelling, later involving the upper limbs, but sparing the hands, feet and face. He had initial pitting, followed by non-pitting oedema and had a positive 'groove sign'. With peripheral eosinophilia, a clinical diagnosis of eosinophilic fasciitis was suspected and was later confirmed on histology. He improved with prednisolone initially and is currently maintained on tapering prednisolone alongside methotrexate.

Stickler syndrome in children: a radiological review.

AIM: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. PATIENTS AND METHODS: It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndrome patients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes. These radiographs were reviewed and 74 knee, 45 pelvic, and 47 spinal examinations were evaluated. RESULTS: Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. The findings were reviewed in the light of each patient's specific genetic Stickler syndrome subtype. CONCLUSION: The prevalence of orthopaedic abnormalities overall in the present series is substantially below those published in previous smaller case series. This would support the more recent findings of an array of ocular only phenotypes of Stickler syndrome described in the literature.

Contemporary management and outcomes for infants born with oesophageal atresia.

BACKGROUND: Reports on the management and outcome of rare conditions, such as oesophageal atresia, are frequently limited to case series reporting single-centre experience over many years. The aim of this study was to identify all infants born with oesophageal atresia in the UK and Ireland to describe current clinical practice and outcomes. METHODS: This was a prospective multicentre cohort study of all infants born with oesophageal atresia and/or tracheo-oesophageal fistula in 2008-2009 in the UK and Ireland to record current clinical management and early outcomes. RESULTS: A total of 151 infants admitted to 28 paediatric surgical units were identified. Some aspects of perioperative management were universal, including oesophageal decompression, operative technique and the use of transanastomotic tubes. However, there were a number of areas where clinical practice varied considerably, including the routine use of perioperative chest drains, postoperative contrast studies and antireflux medication, with each of these being employed in 30-50 per cent of patients. There was a trend towards routine postoperative ventilation. CONCLUSION: The prospective methodology used in this study can help identify practices that all surgeons employ and also those that few surgeons use. Areas of clinical equipoise can be recognized and avenues for further research identified.

Intragenic DNA methylation: implications of this epigenetic mechanism for cancer research.

Epigenetics is the study of all mechanisms that regulate gene transcription and genome stability that are maintained throughout the cell division, but do not include the DNA sequence itself. The best-studied epigenetic mechanism to date is DNA methylation, where methyl groups are added to the cytosine base within cytosine-guanine dinucleotides (CpG sites). CpGs are frequently clustered in high density (CpG islands (CGIs)) at the promoter of over half of all genes. Current knowledge of transcriptional regulation by DNA methylation centres on its role at the promoter where unmethylated CGIs are present at most actively transcribed genes, whereas hypermethylation of the promoter results in gene repression. Over the last 5 years, research has gradually incorporated a broader understanding that methylation patterns across the gene (so-called intragenic or gene body methylation) may have a role in transcriptional regulation and efficiency. Numerous genome-wide DNA methylation profiling studies now support this notion, although whether DNA methylation patterns are a cause or consequence of other regulatory mechanisms is not yet clear. This review will examine the evidence for the function of intragenic methylation in gene transcription, and discuss the significance of this in carcinogenesis and for the future use of therapies targeted against DNA methylation.

Transient osteoporosis associated with pregnancy: use of bisphosphonate in treating a lactating mother.

Transient osteoporosis is a rare condition causing regional pain, immobility and functional compromise. The authors present the case of a pregnant lady with multiple sites of transient osteoporosis, including a stress fracture, successfully treated with intravenous pamidronate and a physical rehabilitation programme. The authors discuss the mechanisms for the syndrome and its overlap with complex regional pain syndrome type I; as well as the implications of bisphosphonate administration to a nursing mother. The authors also highlight the advantages of MRI over standard radiography when investigating unexplained foot pain.

Neonatal survival of prenatally diagnosed exomphalos.

PURPOSE: Exomphalos is a midline defect, with a viable sac composed of amnion and peritoneum containing herniated abdominal contents with an incidence of about 1 in 4,000 live births. Associated major abnormalities can be karyotypic, syndromic or structural in up to 70% of cases. The aim of this study is to determine the factors that influence survival of antenatally diagnosed exomphalos. METHODS: All antenatally diagnosed and postnatally confirmed exomphalos registered with our fetal medicine unit, during 2002-2007, were reviewed. Both prenatal and postnatal outcomes were analysed. RESULTS: Of 88 cases identified with exomphalos, 85 were prenatally diagnosed. Fifty-five of them died in utero (45 terminations, 5 spontaneous abortions and 5 still births). There were 33 live births (37.5%), 7 of which were premature (30-35/40 gestation). Five babies died before coming to surgery (all with major exomphalos as well as abnormal karyotype) while 28 were operated upon. Fourteen cases with minor exomphalos, all isolated, were primarily closed and all survived to discharge. Of 14 babies with major exomphalos, 4 were closed primarily. Nine required silo formation and six successfully underwent secondary closure (one of which had a prenatal diagnosis of giant ruptured exomphalos). Three died before closure, two from sepsis and multi-organ failure, and one from an undiagnosed tracheo-oesophalgeal cleft. All three deaths had antenatally diagnosed giant ruptured exomphalos and were less than 34/40 weeks gestation. One baby was managed conservatively with antiseptic solution applied to the sac and left to heal by secondary intention. There were 17 cases of isolated exomphalos (with no other structural abnormalities), all of which survived. CONCLUSION: Antenatal diagnosis of exomphalos is 96% sensitive. Severe karyotypic and structural abnormalities were present in all intra-uterine and early postnatal deaths. Overall survival to discharge was 28%. Both minor and isolated exomphalos carried a good prognosis. Isolated exomphalos was a better prognostic factor than severity of the exomphalos itself. Ruptured giant exomphalos were associated with a poorer outcome especially in premature babies.

Contralateral hyperalgesia and allodynia following intradermal capsaicin injection in man.

OBJECTIVES: Contralateral responses to unilateral stimuli have been well described in animal models. These range from central sensitization to peripheral inflammatory responses. Our aim was to test for contralateral responses following unilateral intradermal capsaicin injection in man. METHODS: Three groups were investigated. A healthy volunteer group (1) was injected with capsaicin into the volar aspect of one forearm. A group of patients with RA (2) was also injected with capsaicin. A control group of healthy volunteers (3) was not injected with capsaicin. All groups were tested for hyperalgesia and allodynia every 10 min for 1 h following the injection using quantitative sensory testing. RESULTS: A total of 9/14 healthy volunteers (Group 1) and 10/14 patients with RA (Group 2) demonstrated contralateral sensitization that subsided within 1 h following intradermal capsaicin injection. A total of 2/23 control subjects (Group 3) demonstrated positive responses with the monofilaments. The frequency of the contralateral responses in the experimental groups compared with the control group is significant (P < 0.05). The peak hyperalgesia was relatively delayed contralaterally compared with the ipsilateral side (35 min vs 15 min). The area of sensitization, where present, was reduced compared with the ipsilateral side (5-50%). CONCLUSIONS: This is the first demonstration of a contralateral response following a unilateral stimulus in man. Bilateral neural pathways mediating contralateral responses may have a role in the pathophysiology of chronically painful or inflammatory diseases and a confounding influence on using the contralateral limb as a control experimentally. We did not find that a systemic inflammatory disease sensitized for this phenomenon.

Demystifying acupuncture.

Acupuncture refers to the insertion of fine needles into the body at specific points for a therapeutic effect. The term comes from the Latin words 'acus' (needle) and 'punctura' (to puncture). The technique has been practiced in the Far East for at least 3000 yrs but it is only in the last 30 yrs that interest has developed in the West underpinned by increasing scientific research. One of the main uses of acupuncture has been to treat musculoskeletal pain and this article will review the evidence base and outline the main theories of mechanisms of action.

Hypovitaminosis D among rheumatology outpatients in clinical practice.

OBJECTIVES: A role for vitamin D in the pathogenesis of autoimmune and inflammatory diseases is emerging. We undertook an audit of 25-hydroxyvitamin D (25OHD) investigation and treatment in rheumatology outpatients. METHODS: Serum 25OHD requests were matched to electronic medical records from rheumatology and metabolic bone clinics (April 2006-March 2007). Data were analysed separately for two groups, 'Documented osteoporosis/osteopaenia' (Group 1) and 'General rheumatology outpatients' (Group 2, sub-divided by diagnosis). Hypovitaminosis D was defined by 25OHD levels <50 nmol/l. Values were compared with healthy adults to calculate geometric z-scores. RESULTS: A total of 263 patients were included (Group 1, n = 122; Group 2, n = 141) with an overall median 25OHD of 44 nmol/l. The 25OHD level among general rheumatology patients (median 39 nmol/l, mean z score -1.2, was statistically significantly lower than among osteoporotic/osteopaenic patients (median 49 nmol/l, mean z score of -0.9, p < 0.05 for the difference). 25OHD was lower in inflammatory arthritis and chronic pain/fibromyalgia than in other groups. Prescribing was recorded in 100 in Group 1 (of whom 95% were prescribed calcium/800 IU cholecalciferol) and 83 in Group 2 (91% calcium/800 IU). Only 31% of the patients with 25OHD <50 nmol/l would have been identified using general guidelines for screening patients at 'high risk' of hypovitaminosis D. CONCLUSIONS: Improved guidelines for managing hypovitaminosis D in rheumatology patients are needed. We found a high prevalence of hypovitaminosis D among secondary care patients in rheumatology and widespread supplementation with 800 IU cholecalciferol. Substantially reduced levels of serum 25OHD were identified among patients with inflammatory arthritis and chronic pain.

Phantoms in rheumatology.

This paper examines rheumatology pain and how it may relate to amputee phantom limb pain (PLP), specifically as experienced in rheumatoid arthritis, fibromyalgia and complex regional pain syndrome (CRPS). Clinical findings, which suggest cortical sensory reorganization, are discussed and illustrated for each condition. It is proposed that this sensory reorganization generates pain and altered body image in rheumatology patients in the same manner as has previously been hypothesized for amputees with PLP; that is via a motor/sensory conflict. The correction of this conflict through the provision of appropriate visual sensory input, using a mirror, is tested in a population of patients with CRPS. Its analgesic efficacy is assessed in those with acute, intermediate and chronic disease. Finally, the hypothesis is taken to its natural conclusion whereby motor/sensory conflict is artificially generated in healthy volunteers and chronic pain patients to establish whether sensory disturbances can be created where no pain symptoms exists and exacerbated when it is already present. The findings of our studies support the hypothesis that a mismatch between motor output and sensory input creates sensory disturbances, including pain, in rheumatology patients and healthy volunteers. We propose the term 'ominory' to describe the central monitoring mechanism and the resultant sensory disturbances as a dissensory state.

Symmetry, T cells and neurogenic arthritis.

Symmetry in clinical disease occurs more commonly than expected by chance and is unexplained. In this paper we focus on symmetry in arthritis and describe the neurogenic hypothesis. Neuropeptides are anatomically relevant to systemic arthritis and have been shown to have modulating effects on both the immune and circulatory systems. Neural networks project bilaterally and are involved in the development and propagation of inflammatory disease. These putative pathological neuro-feedback loops may derive from the existence of biologically protective symmetrical mechanisms.