Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial archderivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results
Cellular therapy is a key tool to treat haematological malignancies. Over 40,000 allogeneic and autologous haematopoietic stem cell transplants (HSCTs) are performed annually across Europe. Since 2017, a new T cell therapy, chimeric antigen receptor-T (CAR-T) cells have been licensed outside clinical trials. CAR-T cells have extremely potent antitumour activity, but also have a profile of toxic side effects not seen before. Cytokine release syndrome (CRS) and CAR-T cell-related encephalopathy syndrome (CRES) are common, predictable and potentially lethal side effects. Patients frequently require admission to intensive care, and management from a number of medical specialties. This exciting and powerful new therapy requires the formation of new multispecialty medical teams for safe delivery and to successfully manage the resultant complications.
The W-NTS observation chart, previously shown to outperform existing early warning scores, acts well as an adjunct to clinical assessment on the PNW, with its simplicity allowing for the successful and safe use by non-paediatric specialists. We recommend that neonates scoring 1 should be reviewed, with a septic screen and commencement of antibiotic therapy considered, while those scoring 2 or more should be strongly considered for NICU admission for further management.
In their sensitive account of suffering in end-of-life decisionmaking, 1 Professor Isaacs and Ms Preisz are right to assert that children do not exist in isolation, but rather that the positive value in their lives is derived from the web of relations they exist within. Despite this network of relations being a fundamental source of value for the individual, the individual remains the fundamental unit to which rights may accrue. In their prudent reluctance to overrule parents in life and death decisions about children's suffering, the authors give undue weight to the parents' own suffering arising from their children's ongoing illness and survival.Consider John and Jane, two children with the same illness. After careful consideration, a small majority of physicians argue for ongoing treatment and therefore survival for both John and Jane, but the burdens of ongoing treatment and survival are considered significantly more onerous by John's parents than Jane's parents. Per the authors' reasoning, where the parent's perceptions of the burdens of treatment and survival are taken into account as one of a number of variables in the burdens versus benefits calculus, it is conceivable that the decision to ultimately terminate John's ongoing treatment may turn on the burdensomeness to his parents of his treatment and survival. If we assume that John and Jane have an otherwise equal claim to continued existence, then it would seem a perverse outcome that John's claim is overruled by his having, through no fault of his own, parents for whom the burdens of his own ongoing illness and survival are more onerous.Furthermore, just as the burdens of intensive care may be ameliorated by for example analgesia, sedation, and other nonpharmacological means of mitigating suffering, so may the burdens of the child's ongoing illness and survival on their family be ameliorated. The particular family unit in which we imagine a child might benefit from love and affection is itself historically contingent. Children may thrive in other arrangements, for example, living with extended family or kinship networks, or in foster-care or adoption arrangements. We can also imagine a society where the almost superhuman expectations placed on parents of children with profound neuro-disability are recognised for what they are, and new models of care, appropriately resourced, are directed towards these families to ease the burdens of care, and tip the balance of this tragic calculus in favour of survival.
The cover image, by Sarah Smithson et al., is based on the Research Article Cerebro‐costo‐mandibular syndrome: Clinical, radiological, and genetic findings, DOI: .
Aims Prolonged jaundice in babies is common and usually harmless but a very small number of cases have serious pathology, such as biliary atresia, in which early detection is vital. Many “well” babies with prolonged jaundice undergo extensive investigations with a very low yield of important positive results. Our aim was to assess the safety, efficiency and cost effectiveness of a nurse-led prolonged jaundice clinic which has been in operation at our district general hospital for ten years, performing minimal investigations compared to standard practise. Methods We collected data retrospectively for all babies <3months of age in whom a conjugated bilirubin level was measured at ≥14 days of age (term) or ≥21 days (preterm) from January-August 2011, excluding babies on the neonatal unit. We reviewed clinic proformas completed for each baby seen with prolonged jaundice, medical notes and hospital results system to establish whether the baby was managed in the nurse led prolonged jaundice clinic or elsewhere by doctors, investigations undertaken and clinical outcomes. Results 91% (176) of 194 babies were managed in the nurse led prolonged jaundice clinic; 5.6% (10) had additional investigations which identified one case with significant pathology. Of the 9% (18) of babies seen elsewhere by doctors (A&E/outpatients/inpatients/daycare), 77% (14) had additional investigations. 3 babies had serious pathology including one case of biliary atresia which presented late (48 days old). Conclusion For the last ten years we have managed the vast majority of babies with prolonged jaundice in our nurse-led clinic, successfully avoiding unnecessary, time-consuming and expensive investigations for well babies whilst promptly identifying cases with serious pathology. Our district general hospital has recently merged with two local community health services to form an Integrated Care Organisation, providing a unique opportunity to move the nurse-led prolonged jaundice clinic into the community. Based on our well established model, such clinics could be conducted in local health centres by midwives or community paediatric nurses, supervised by a consultant paediatrician. This would allow further cost savings and be more convenient for families.
Introduction: Psychogenic non-epileptic seizures (PNES) present difficulties in diagnosis and management and facilities to manage these children vary greatly. Objectives: This study aimed to evaluate the effect of a multidisciplinary inpatient epilepsy/ neuropsychiatric service in improving outcomes of children with psychogenic non-epileptic seizures. Methods: This retrospective study identifies lessons learnt from managing children with PNES in a specialist inpatient facility in Oxford, United Kingdom over a ten-year period. Forty-two children were identified and categorised into 3 groups: group A (n=21) with one or more epileptic seizures prior to the onset of PNES; group B (n=6) with no epileptic events but interictal EEG showing epileptiform discharge and; group C (n=15) with no prior epileptic events and normal interictal EEGs. All patients received inpatient input for 6-8 weeks from a multidisciplinary team (MDT) led by a neuropsychiatrist and neurophysiologist with special interest in paediatric epilepsy, supported by experienced nurses, psychologists, occupational therapists and hospital schoolteachers. Results: Following initial investigations (including video-telemetry) to exclude organic pathology, a positive diagnosis of PNES was conveyed to the family, followed by several meetings to answer questions and explore non-drug interventions. Psychological therapies involved exploring areas of stress, introducing the 'idea of gain' and helping to develop alternative coping mechanisms. Anticonvulsants were gradually withdrawn in many cases. At discharge, episodes of PNES had stopped in the majority of children (20/21 (95%) in group A, 6/6 (100%) in group B and 12/15 (80%) in group C. Conclusion: In our series, the facility of an inpatient epilepsy/neuropsychiatric service allowed for rapid thorough assessment and subsequent successful management of PNES. Early involvement of an MDT allowed children and their parents the space to accept the diagnosis and move forward.
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