A Rare Cause of Vitamin B12 Deficiency in the Pediatric Age.

Vitamin B12 plays an important role in DNA synthesis, hematopoiesis, and neuronal mechanisms, and its deficiency can be associated with insufficient intake or poor absorption and autoimmune and genetic diseases. Although rare, excessive, and chronic alcohol consumption may also justify a deficiency in this vitamin. We present a case of a 17-year-old Iraqi adolescent refugee in Portugal with a deficiency of vitamin B12 due to excessive and chronic alcohol consumption. Although intramuscular (IM) supplementation with cyanocobalamin is the most used, it was decided to initiate oral supplementation. After four months, vitamin B12 levels were replenished. With this clinical case, we aim to raise awareness of the cause of cyanocobalamin deficiency, which although rare in pediatric age should be considered in adolescents, given the possibility of risky behaviors in this age group. Additionally, given the therapeutic options, we have found that oral administration of vitamin B12 has been effective, as reported in the literature.

Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?

BACKGROUND: Inherited metabolic diseases (IMD) bring considerable burden on the child and family. Challenging areas for health care include the identification of distressing symptoms, prognostic uncertainty, and bereavement. Literature regarding the impact of paediatric palliative care (PPC) is scarce. OBJECTIVE: This study aims to evaluate children with IMD referred to a PPC team (PPCT) and to analyse its impact on home care, decision to limit treatment (DLT), use of hospital resources (emergency department admissions - EDA, hospital admissions - HA, intensive care admissions - ICA) and end of life support. METHODS: Retrospective cohort study of children with IMD referred to a specialized PPCT (2016-2022). We assessed clinical data: symptoms control, time of referral and length of the follow-up period, DLT, device dependency, use of hospital resources prior to and after referral, place of death and end-of-life support. RESULTS: Fifteen children with IMD were referred to PPCT (8% of total referrals), with median age of 7 years (4 months - 17 years); 53% female. All children were non or pre-verbal. Most prevalent symptoms were neurologic and motor impairment (100%), respiratory and gastrointestinal (75%). 80% had tube feeding, 90% had some respiratory device (non-invasive ventilation in 23%). All children had multidrug use, with a mean of 6 drugs per child (2-9). 73% had home PPC and 80% had DLT planned. Nine children died (78% in hospital), after a mean of 17 months of follow-up (2 months to 4 years), all with DLT planned. 67% had support from PPCT at the end of life. All these families received emotional support. Decrease in EDA (10 vs 2) was noticed before and after PPCT. No impact was seen in HA and ICA (6 vs 5 and 1 vs 1, respectively) and there was a longer mean of hospitalisation stay (15 vs 32 days). CONCLUSION: Our cohort includes a group of children with severe, complex and neurodegenerative IMD. They need multiple medications for symptoms control, are highly dependent on medical devices and consume significant healthcare resources. Communication impairment adds complexity being a major barrier to symptom assessment. PPCT referral allowed home support, anticipated care plans development with end of life and bereavement support, as well as a tendency towards a reduction in EDA. These findings reinforce the need for holistic approach to identify and address the PPC needs of children with IMD.

Chronic pain impact on rodents' behavioral repertoire.

Rodent models have been fundamental to understand chronic pain (CP) pathophysiology and to test for potential treatments. Pain assessment in CP models is most frequently based on the evaluation of allodynia or hyperalgesia. However, these correspond only to a part of CP-related problems which include ongoing pain, depression, anxiety, disrupted sleep and attentional deficits. A growing number of preclinical studies have been assessing these manifestations in CP rodent models. We reviewed and systematized this information by behavioral domain. Observational studies in ethologically relevant conditions, paradigms of anxiety- and depressive-like behavior as well as of memory and executive function were selected. A considerable number of studies reported deficits similar to those observed in CP patients. These behavioral alterations are informative regarding ongoing maladaptive plasticity in multiple brain regions and its use as pain proxies has the potential to greatly improve the predictive value of CP models. However, the inclusion of female and/or older rodents is rare which is in clear dissonance with the clinical representation of CP.

High trait impulsivity potentiates the effects of chronic pain on impulsive behavior.

Preclinical studies on impulsive decision-making in chronic pain conditions are sparse and often contradictory. Outbred rat populations are heterogeneous regarding trait impulsivity manifestations and therefore we hypothesized that chronic pain-related alterations depend on individual traits. To test this hypothesis, we used male Wistar-Han rats in two independent experiments. Firstly, we tested the impact of spared nerve injury (SNI) in impulsive behavior evaluated by the variable delay-to-signal test (VDS). In the second experiment, SNI impact on impulsivity was again tested, but in groups previously categorized as high (HI) and low (LI) trait impulsivity in the VDS. Results showed that in an heterogenous population SNI-related impact on motor impulsivity and delay intolerance cannot be detected. However, when baseline impulsivity was considered, HI showed a significantly higher delay intolerance than the respective controls more prevalent in left-lesioned animals and appearing to result from a response correction on prematurity from VDS I to VDS II, which was present in Sham and right-lesioned animals. In conclusion, baseline differences should be more often considered when analyzing chronic pain impact. While this study pertained to impulsive behavior, other reports indicate that this can be generalized to other behavioral dimensions and that trait differences can influence not only the manifestation of comorbid behaviors but also pain itself in a complex and not totally understood manner.