Abstract:The World Health Organization estimates that approximately a quarter of the world's population suffers from anemia, including almost half of preschool age children. Globally, iron deficiency anemia is the most common cause of anemia. Other important causes of anemia in children are the hemoglobinopathies, infection, and other chronic diseases. Anemia is associated with increased morbidity, including neurologic complications, increased risk of low birth weight, infection, and heart failure, as well as increased… Show more
“…Multiple micronutrients play a role in the development of anemia: in particular iron, but also folate, vitamin B12, copper ( 51 ), and vitamin E ( 52 ). Mild or moderate chronic anemia may present with fatigue, pallor, exercise intolerance, tachycardia, and/or syncope, or may be asymptomatic due to compensatory mechanisms.…”
Section: Discussionmentioning
confidence: 99%
“…Severe chronic anemia can cause growth failure and neurodevelopmental impairment. Patients with severe anemia are at increased risk of heart failure ( 51 ) and adverse outcomes related to pre existing heart conditions.…”
Pediatric gastroenterologists are often responsible for the evaluation of malnutrition in the setting of selective eating. Endoscopic evaluation for conditions including eosinophilic esophagitis and celiac disease can help to identify and treat mucosal disease contributing to food selectivity. However, undiagnosed micronutrient deficiencies can cause cardiovascular derangements that significantly increase a patient's anesthetic risk. Vitamin C deficiency in particular, alone or in combination with severe malnutrition, is associated with a severe but reversible form of pulmonary arterial hypertension that, while life threatening in the acute phase, may significantly improve within days of starting ascorbic acid replacement therapy. Here we present a case of a 6-year-old boy with autism spectrum disorder (ASD), severe malnutrition, and undiagnosed chronic vitamin C deficiency who developed a pulmonary hypertensive crisis after induction of general anesthesia leading to cardiac arrest during endoscopic evaluation. While the association between food selectivity among youth with neurodevelopmental differences and vitamin C deficiency is well-described, and pulmonary hypertension is a recognized rare complication of scurvy, extant literature has not addressed next steps to improve patient outcomes. Using this case report as a foundation, we discuss specific patient populations to screen and treat for micronutrient deficiencies prior to anesthesia and propose a novel clinical algorithm for pre-anesthesia risk stratification and mitigation in patients specifically at risk for scurvy and associated pulmonary hypertension.
“…Multiple micronutrients play a role in the development of anemia: in particular iron, but also folate, vitamin B12, copper ( 51 ), and vitamin E ( 52 ). Mild or moderate chronic anemia may present with fatigue, pallor, exercise intolerance, tachycardia, and/or syncope, or may be asymptomatic due to compensatory mechanisms.…”
Section: Discussionmentioning
confidence: 99%
“…Severe chronic anemia can cause growth failure and neurodevelopmental impairment. Patients with severe anemia are at increased risk of heart failure ( 51 ) and adverse outcomes related to pre existing heart conditions.…”
Pediatric gastroenterologists are often responsible for the evaluation of malnutrition in the setting of selective eating. Endoscopic evaluation for conditions including eosinophilic esophagitis and celiac disease can help to identify and treat mucosal disease contributing to food selectivity. However, undiagnosed micronutrient deficiencies can cause cardiovascular derangements that significantly increase a patient's anesthetic risk. Vitamin C deficiency in particular, alone or in combination with severe malnutrition, is associated with a severe but reversible form of pulmonary arterial hypertension that, while life threatening in the acute phase, may significantly improve within days of starting ascorbic acid replacement therapy. Here we present a case of a 6-year-old boy with autism spectrum disorder (ASD), severe malnutrition, and undiagnosed chronic vitamin C deficiency who developed a pulmonary hypertensive crisis after induction of general anesthesia leading to cardiac arrest during endoscopic evaluation. While the association between food selectivity among youth with neurodevelopmental differences and vitamin C deficiency is well-described, and pulmonary hypertension is a recognized rare complication of scurvy, extant literature has not addressed next steps to improve patient outcomes. Using this case report as a foundation, we discuss specific patient populations to screen and treat for micronutrient deficiencies prior to anesthesia and propose a novel clinical algorithm for pre-anesthesia risk stratification and mitigation in patients specifically at risk for scurvy and associated pulmonary hypertension.
“…Pediatric nonimmune hemolysis is mainly associated with intrinsic disorders of the erythrocyte, such as defects of RBC membrane, enzymatic defects or of hemoglobin synthesis, or acquired disorders, such as paroxysmal nocturnal hemoglobinuria or microangiopathic phenomena, mostly hemolytic uremic syndrome (HUS), TTP, or disseminated intravascular coagulation. 1 A peripheral blood smear can inform on the presence of schistocytes, which may be found in microangiopathic anemia. Case 1 presented with microangiopathic anemia (normocytic nonimmune anemia with evidence of hemolysis and schistocytes on a peripheral blood smear).…”
Section: Casementioning
confidence: 99%
“…A less frequent cause of anemia is cobalamin deficiency, which may result from either acquired (decreased intake or reduced absorption) or inherited abnormalities (absorption, transport, or metabolism of vitamin B12). 1 Although uncommon in developed countries, its prevalence is rising in African and Asian countries (up to 80% in Indian preschool children), 2 related to poverty and cultural vegetarian diets. Since cobalamin is an essential cofactor in methylation processes in reactions involving DNA and cell metabolism, its deficit manifests not only as ineffective hematopoiesis but also as faltering growth, developmental delay, or neurological symptoms.…”
mentioning
confidence: 99%
“…Since cobalamin is an essential cofactor in methylation processes in reactions involving DNA and cell metabolism, its deficit manifests not only as ineffective hematopoiesis but also as faltering growth, developmental delay, or neurological symptoms. 1,2 Hematological manifestations typically include macrocytic anemia, which may be transfusion-dependent. The other blood cell lineages may be affected, simulating acute leukemia or aplastic anemia.…”
Two severe cases of hemolytic anemia are described in different pediatric age groups, both linked to severe cobalamin deficiency from distinct causes. The first case refers to an exclusively breastfed infant with vitamin deficit secondary to maternal impaired absorption. Apart from the neurological deficits present at diagnosis, he also presented with infantile epileptic spasms syndrome a few months after treatment while having normal cobalamin serum levels. The second case refers to an adolescent with long-term inadequate intake. The occurrence of severe hemolytic anemia in cobalamin deficiency is exceptionally rare.
Within the last decade, the scientific community has witnessed the importance of ferroptosis as a novel cascade of molecular events leading to cellular decisions of death distinct from apoptosis and other known forms of cell death. Notably, such non‐ apoptotic and iron‐dependent regulated cell death has been found to be intricately linked to several physiological processes as well as to the pathogenesis of various diseases. To this end, recent data support the notion that a potential molecular connection between ferroptosis and inherited bone marrow failure (IBMF) in individuals with ribosomopathies may exist. In this review, we suggest that in ribosome‐related IBMFs the identified mutations in ribosomal proteins lead to changes in the ribosome composition of the hematopoietic progenitors, changes that seem to affect ribosomal function, thus enhancing the expression of some mRNAs subgroups while reducing the expression of others. These events lead to an imbalance inside the cell as some molecular pathways are promoted while others are inhibited. This disturbance is accompanied by ROS production and lipid peroxidation, while an additional finding in most of them is iron accumulation. Once lipid peroxidation and iron accumulation are the two main characteristics of ferroptosis, it is possible that this mechanism plays a key role in the manifestation of IBMF in this type of disease. If this molecular mechanism is further confirmed, new pharmacological targets such as ferroptosis inhibitors that are already exploited for the treatment of other diseases, could be utilized to improve the treatment of ribosomopathies.
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