Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Introduction: The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. We aimed to assess the quality of life and mental health of patients with rare diseases in Spain, with a special focus on inherited metabolic disorders (IMD). Methods: A prospective case-control study was designed, comparing 459 patients suffering from a rare disease (including 53 patients with IMD) and 446 healthy controls. Quality of life (QoL) and mental health were assessed using validated scales according to age: KINDL-R and the Pediatric Symptom Checklist (PSC) for children and the WhoQoL-Bref questionnaire, GAD and PHQ-9 in adults. Results: First, children and adults (but not adolescents) with IMD showed greater psychological effects than controls (p = 0.022, p = 0.026 respectively). Second, when comparing QoL, only adult patients with IMD showed worse score than controls (66/100 vs 74,6/100 respectively, p = 0.017). Finally, IMD had better quality of life than other rare neurological and genetic diseases (p = 0.008) or other rare diseases (p < 0.001 respectively) but similar alteration of the mental status. Conclusions: Our data show that the pandemic had a negative impact on mental health that is more evident in the group of patients with IMD. Young age would behave as a protective factor on the perception of QoL. Furthermore, patients with IMD show a better QoL than other rare diseases.

Maternal mental health and breastfeeding amidst the Covid-19 pandemic: cross-sectional study in Catalonia (Spain).

BACKGROUND: Covid-19 pandemic became an unexpected stressor for the entire population and, particularly, for pregnant women and lactating mothers. The alarming infectious risk together with the lockdown period could affect the emotional state of mothers-to-be, as well as breastfeeding rates, mother-baby bonding, or neonatal weight gain. The aim of this study is to describe the impact of this world health emergency in mother-baby pairs right after the first wave of Sars-Cov-2 pandemic (from March to May 2020). STUDY DESIGN: A prospective observational study was carried out in mother-child dyads from those women who gave birth between June and August 2020 in a tertiary hospital. 91 mother-baby pairs were initially enrolled and 56 of them completed the follow-up. The study design had two separate steps: i) Step one: A clinical interview plus three psychometric tests (EPDS: Edinburgh Postnatal Depression Scale, PBQ: Postpartum Bonding Questionnaire and STAI-S: State-Trait Anxiety Inventory); ii) Step two: mother-child dyads were followed using a round of three brief telephone interviews (conducted at the newborn's 7, 14 and 28 days of age) to accurately depict the newborn's outcome in the neonatal period. RESULTS: In terms of maternal mental health, 25% of the sample screens positively in the EPDS, requiring further evaluation to rule out depressive symptoms. STAI-state and PBQ detect no abnormalities in either anxiety levels or mother-child bonding in our sample, as 100% of the mothers score below the cut-off points in each test (34 and 26 respectively). When comparing feeding practices (breast/bottle feeding) in 2020 to those practices during pre-pandemic years (2017-2019), a significant increase in breastfeeding was found in pandemic times. All newborns in the sample showed an adequate weight gain during their first month of life. CONCLUSION: Women and newborns in our sample did not experience an increase in adverse outcomes in the neonatal period in terms of maternal mental health, breastfeeding rates, bonding and further neonatal development.

Case report of a gallbladder agenesis, a diagnostic challenge.

INTRODUCTION AND IMPORTANCE: Agenesis of the gallbladder is an underdiagnosed entity. It can be an asymptomatic pathology, usually diagnosed incidentally as a finding on imaging techniques or in necropsies. There are symptomatic cases presenting as biliary colic too, attributed to cholecystitis or cholangitis, leading to exploratory surgeries. CASE PRESENTATION: We present a 14-year-old boy admitted to the outpatient Pediatric Gastroenterology Department with a history of daily abdominal pain for the past 2 months. Blood and fecal tests were normal. Coeliac disease, inflammatory intestinal diseases and Helicobacter pylori infection were ruled out. An abdominal US was informed of a hypodistensed gallbladder with no other findings. A CT scan was performed, which reported of an absent gallbladder. Upon these findings, a Magnetic Resonance Cholangiopancreatography (MRCP) was carried out, confirming the diagnosis of agenesis of the gallbladder. CLINICAL DISCUSSION: Its diagnosis still poses a challenge, as an absent gallbladder may not always be apparent by US, with the MRCP being the gold-standard test for examining the biliary tract. The prognosis is usually good, and the treatment of choice consists of antispasmodics when needed. There are few cases reported in literature, for this reason, our article discusses the most important aspects of agenesis of the gallbladder in order to suspect it, request the appropriate tests and saving unnecessary surgical interventions. CONCLUSION: Gallbladder agenesis is a rare entity that can lead to unnecessary diagnostic tests and interventions. The MRCP is the gold-standard test. Despite its benign nature, symptomatic treatment might be required in order to improve the patient's quality of life.

Síndrome d'hiperèmesi per cannabinoides com a causa de vòmits incoercibles / Síndrome de hiperemesis por cannabinoides como causa de vómitos incoercibles / Cannabinoid hyperemesis syndrome as a cause of incoercible vomiting

INTRODUCCIÓ: La síndrome d'hiperèmesi per cannabinoides (SHC) és una entitat de prevalença creixent en pediatria a causa de l'augment del consum de cànnabis en aquesta població, particularment en l'adolescència, durant els últims anys. Per això és rellevant conèixer-la I tenir-la present en el diagnòstic diferencial davant d'una clínica compatible. OBSERVACIÓ CLÍNICA: En aquest article es presenten dos casos diagnosticats d'SHC, amb diferents formes de presentació, ja que el primer té una evolució més llarga I va acompanyat d'alteracions hidroelectrolítiques importants, mentre que el segon té una presentació més aguda, amb menys repercussió homeostàtica. Ambdós casos presenten una resolució progressiva en retirar el consum de la substància. COMENTARIS: La fisiopatologia de l'SHC és poc coneguda. Es tracta d'una reacció paradoxal del cànnabis, que a baixes dosis té activitat antiemètica però que en aquests pacients provoca l'efecte contrari. Es manifesta clínicament en forma d'episodis cíclics de vòmits I abdominàlgia que característicament milloren amb banys d'aigua calenta. En ocasions, el quadre pot ser greu I anar acompanyat de deshidratació I alcalosi importants, fet pel qual alguns pacients són sotmesos a nombroses exploracions complementàries abans d'arribar al diagnòstic d'exclusió d'SHC. L'únic tractament curatiu és l'abstinència, però sovint necessiten fluïdoteràpia o antiemètics, tot I que aquests últims són poc efectius. És fonamental el tractament multidisciplinari (pediàtric, psicològic/psiquiàtric I social) per aconseguir suprimir-ne el consum

INTRODUCCIÓN: El síndrome de hiperemesis por cannabinoides (SHC) constituye una entidad de prevalencia creciente en pediatría a causa del aumento del consumo de cannabis en esta población, particularmente en la adolescencia, durante los últimos años. Por este motivo es relevante conocerla y tenerla presente en el diagnóstico diferencial ante una clínica compatible. OBSERVACIÓN CLÍNICA: En este artículo se presentan dos casos diagnosticados de SHC con diferentes formas de presentación: el primero, de larga evolución, muestra al diagnóstico alteraciones hidroelectrolíticas importantes mientras que el segundo, de presentación más aguda, asocia menor repercusión homeostática. Ambos presentan una mejoría progresiva con resolución completa al conseguir la abstinencia. COMENTARIOS: La fisiopatología del SHC es poco conocida. Se trata de una reacción paradójica al cannabis, que a dosis bajas posee un efecto antiemético, pero que actúa en estos pacientes como emetizante. Se manifiesta clínicamente en forma de episodios cíclicos de vómitos y abdominalgia que característicamente mejoran con baños de agua caliente. En ocasiones puede ser grave, acompañándose de deshidratación y alcalosis importantes, por lo que algunos pacientes son sometidos a numerosas exploraciones complementarias para descartar otras etiologías antes de llegar al diagnóstico de exclusión de SHC. El único tratamiento curativo es la abstinencia, si bien precisan frecuentemente de fluidoterapia o de antieméticos, aunque los últimos sean poco efectivos. Resulta fundamental un abordaje multidisciplinar (pediátrico, psicológico/psiquiátrico y social) indispensable para conseguir suspender el consumo

INTRODUCTION: Cannabinoid hyperemesis syndrome (CHS), although uncommon in the field of Pediatrics, has recently experienced an increase in prevalence due to the rise in cannabinoid use among the pediatric population, particularly adolescents. It is thus important to be aware of this entity and to include it in the differential diagnosis of recurrent vomiting. CLINICAL OBSERVATION: The current article discusses two cases of CHS with different clinical presentation: the first patient consulted with important electrolyte imbalance due to its long-term evolution, while the second, with more acute presentation, showed no homeostatic disturbance. Both were hospitalized and evolved satisfactorily until complete recovery once cannabis use was discontinued. COMMENTS: While its pathophysiology is unclear, CHS seems to be a paradoxical reaction to cannabis, a drug that in low doses acts as an antiemetic but can also induce vomiting. CHS consists of bouts of cyclic vomiting and abdominal pain that characteristically improve with hot water showers or baths. Occasionally, the clinical presentation may be severe, with dehydration and metabolic alkalosis, making patients with CHS undergo many unnecessary tests before an exclusion diagnosis can be made. Abstinence constitutes the only effective treatment. Intravenous fluid therapy may be required, and antiemetic drugs are often administered with poor results. It is therefore essential to offer psychological assistance alongside medical intervention to stop substance abuse