[Vitamin deficiencies in the adult outpatient setting]. / Carences vitaminiques chez l'adulte en médecine ambulatoire.

Since their discovery more than a century ago to this day, vitamins went from misunderstood molecules with mysterious properties to fundamental components with undoubted clinical implications. Despite the scientific progresses in the understanding of their physiopathological role, vitamins raise to this day multiple interrogations in clinical practice. This article aims at answering questions that are frequently encountered in the outpatient setting regarding vitamin deficiencies: who to screen ? At what moment ? By which test ? How to interpret the results ? How to supplement ? By answering these questions, we hope to provide the general practitioners with a pragmatic tool to guide them in the management of issues related to vitamins.

Depuis leur découverte il y a plus d'un siècle à aujourd'hui, les vitamines sont passées de molécules méconnues et aux propriétés mystérieuses à des composants primordiaux et aux implications cliniques certaines. Malgré les progrès scientifiques dans la compréhension de leur rôle physiopathologique, les vitamines suscitent encore de nombreuses interrogations en pratique clinique. Cet article s'efforce de répondre aux questions fréquem ment rencontrées en médecine ambulatoire portant sur les carences vitaminiques: qui dépister ? À quel moment ? Par quel test ? Comment interpréter les résultats ? Comment supplémenter ? En répondant à ces questions, nous espérons fournir au médecin de premier recours un outil pragmatique pour l'orienter dans la prise en charge des problématiques vitaminiques.

Alcoholism and nutrition: a review of vitamin supplementation and treatment.

PURPOSE OF REVIEW: This is a review of the research on the effectiveness of vitamin supplementation for alcoholism and alcohol-related illnesses. The focus is on research, both clinical and basic on alcohol treatment and nutritional effectiveness of these vital nutrients. RECENT FINDINGS: Most of the research involves basic experiments exploring the impact of vitamin depletion or deficits on physiological systems, especially liver and brain, in rodents. These often include behavioral measures that use cognitive, learning/memory and motivation experiments that model clinical studies. These provide support for hypotheses concerning the impact of such deficiencies in clinical populations. Clinical studies are rare and involve evaluation of the outcome of supplementation usually in the context of a treatment program. Specific vitamins, dosages and treatment programs vary. Deficiencies in retinoids (vitamin A), thiamine (B1) and niacin (B3) are the most frequently investigated. However, there is a greater need for further research on other vitamins, and for more uniform supplementation and treatment procedures. SUMMARY: The literature is primarily basic research on specific vitamins. There are very significant findings with individual vitamin supplementation and combinations that show promise of our understanding of the role of vitamins in the disease of alcoholism and its treatment.

Nutritional Status in the First 2 Years of Life in Cystic Fibrosis Diagnosed by Newborn Screening.

OBJECTIVE: To evaluate nutritional status and associated factors in a cystic fibrosis (CF) cohort diagnosed by newborn screening and followed up to month 24. METHODS: A prospective longitudinal multicenter study assessing nutritional status according to pancreatic status, feeding modalities, prescriptions, pulmonary outcome, and biological nutritional parameters. RESULTS: One hundred and five infants were recruited and 99 completed the study. Nutritional care management prevented undernutrition and stunting in those with exocrine pancreatic sufficiency (EPS), but affected (13/87) 15% and (21/86) 24%, respectively, of infants with exocrine pancreatic insufficiency (EPI). The logistic regression model found a positive association between both weight and length z scores "at risk" at month 24, and initial pulmonary symptoms (odds ratio [OR] 0.06, P < 0.01 and OR 0.08, P < 0.01, respectively); these symptoms were less frequent when age at first visit was earlier than 1.2 months (33% vs 67%, P = 0.02); stunting was also associated with high-calorie density intake and Staphylococcus aureus (OR 0.05, P = 0.01 and OR 0.17, P < 0.01). Pulmonary outcome did not differ according to pancreatic status; breast-feeding for at least 3 months delayed first acquisition of Pseudomonas aeruginosa. Despite sodium and fat-soluble vitamin supplementation, half of both cohorts had low urinary sodium output and half of the EPI cohort had low vitamin D levels. CONCLUSIONS: Our data shed light on the fact that stunting was more frequent than undernutrition, while both parameters involved only patients with pancreatic insufficiency. Modalities of feeding were not associated with nutritional status; breast-feeding may provide some protection against acquisition of P aeruginosa.

Vitamin and trace element deficiencies in the pediatric dialysis patient.

Pediatric dialysis patients are at risk of nutritional illness secondary to deficiencies in water-soluble vitamins and trace elements. Unlike 25-OH vitamin D, most other vitamins and trace elements are not routinely monitored in the blood and, consequently, the detection of any deficiency may not occur until significant complications develop. Causes of vitamin and trace element deficiency in patients on maintenance dialysis patient are multifactorial, ranging from diminished nutritional intake to altered metabolism as well as dialysate-driven losses of water-soluble vitamins and select trace elements. In this review we summarize the nutritional sources of key water-soluble vitamins and trace elements with a focus on the biological roles and clinical manifestations of their respective deficiency to augment awareness of potential nutritional illness in pediatric patients receiving maintenance dialysis. The limited pediatric data on the topic of clearance of water-soluble vitamins and trace elements by individual dialysis modality are reviewed, including a brief discussion on clearance of water-soluble vitamins and trace elements with continuous renal replacement therapy.

Fat soluble vitamin levels in children with newly diagnosed celiac disease, a case control study.

BACKGROUND: In children diagnosed with celiac disease, fat soluble vitamin levels were aimed to be evaluated and it was intended to determine whether fat soluble vitamin levels were needed to be assessed routinely in these patients during diagnosis. METHODS: Between May 2015-May 2016, diagnosis symptoms of celiac patients (CD) in newly diagnosed pediatric group were questioned, fat soluble vitamin levels simultaneous with intestinal biopsies were evaluated. Vitamin levels were compared with those of healthy control group. RESULTS: A total of 52 patients involving 27 female (51.9%), 25 male (48.1%); and a total of 50 healthy control group including 25 female (50%), 25 male (50%) were evaluated. The average age of patients was 9 ± 4.3 years, and their average weight was determined as 16.2 ± 6.3 kg. Growth retardation was the most frequent symptom in our patients (61.5%). Abdominal pain (51.9%) and diarrhea (11.5%) are among the other most commonly seen symptoms. In the histological examination of patients, Marsh 3B n = 23 (45.1%) was mostly established. Vitamin A and vitamin D levels of patients were determined significantly lower compared to those of control group. Vitamin A and vitamin D deficiencies were identified significantly higher compared to those of healthy control group. Vitamin D insufficiency was observed in 48 patients (92.3%) and vitamin D deficiency was determined in 32 (61.5%) out of 48. Vitamin A deficiency was established in 17 (32.7%) patients. Vitamin E and vitamin K1 deficiency were determined in no patients. In the healthy control group, vitamin D deficiency was seen in 2 (4%) patients, vitamin D insufficiency was determined in 9 (18%) patients. Other vitamin levels were identified at normal levels in the healthy group. CONCLUSIONS: In newly diagnosed children with CD, a significant lowness was established in vitamin D and A. The evaluation of vitamin A and D levels will be helpful in the course of diagnosis in these patients.

Managing Malnourishment in Pregnancy after Bariatric Surgery.

BACKGROUND: Little information exists to guide monitoring and treatment of malnourishment during pregnancy after bariatric surgery. Here we present a case with severe deficiencies and recommendations for testing and treatment. CASE: Our patient underwent a duodenal switch procedure resulting in significant weight loss and numerous deficiencies. She then experienced a neonatal demise with multiple congenital abnormalities, including diaphragmatic hernia, possibly related to severe vitamin A deficiency. After high doses of oral and parenteral replacement, pancreatic enzymes, and total parenteral nutrition, she delivered an anatomically normal but growth-restricted neonate in a subsequent pregnancy. CONCLUSION: Bariatric procedures may result in nutritional deficiencies that affect pregnancy outcome. Women with severe deficiencies require pre-pregnancy counselling, monitoring, aggressive treatment, and a multidisciplinary approach to care.

Vitamin Excess and Deficiency.

The published literature supports the high prevalence of supplement use in children and adolescents in the United States. Pediatricians today are faced with questions from parents and patients about the benefits, safety, efficacy, and correct dose of vitamins and minerals. In this article, we review 7 vitamins with the most clinical relevance as judged by abundance in food, risks and symptoms of deficiency, and potential for toxicity. Specifically, we focus on possible clinical scenarios that can be indicative of nutritional deficiency. We synthesize and summarize guidelines from nutrition experts, various medical societies, the World Health Organization, and the American Academy of Pediatrics.

Comparison of body composition and nutrients' deficiencies between Portuguese rink-hockey players.

We evaluated dietary intake and body composition of child and adolescent rink-hockey players and controls. Seventy-two male rink-hockey players (38 children and 34 adolescents) and 79 male controls (43 children and 36 adolescents) were evaluated in order to collect training data, detailed dietary intake and body composition. Rink-hockey players presented significantly lower body fat (BF) and higher fat-free mass (FFM) than controls. Mean intakes of carbohydrate and protein were considered to be adequate, but mean intakes of fat were above the recommended levels in athletes. Significant differences were found for energy intake (EI) and exercise energy expenditure (EEE) between athletes and controls (P < 0.05), resulting in some cases of low energy availability in rink-hockey players. Significant group differences (P < 0.05) were also observed for vitamins and mineral intakes in child and adolescent rink-hockey players due to higher mean intakes in control groups. Low intakes of vitamins D, E and K, calcium, iron, boron and magnesium were reported in athletes, with exception for thiamine (P = 0.449), riboflavin (P = 0.246), pantothenic acid (P = 0.065), magnesium (P = 0.061) and phosphorus (P = 0.051) in children and for niacin (P = 0.652), vitamin D (P = 0.406) and zinc (P = 0.783) in adolescents. CONCLUSION: Nutritional deficiencies in macronutrients and micronutrients observed in very young rink-hockey players can impair their growth and development with negative consequences upon athletic performance. What is Known: • Adequate dietary intake is an important resource for athletes' short- and long-term health, performance and recovery. • There are no published studies in rink-hockey players' energy availability. What is New: • This study provides the first data on significant differences in energy intake between very young athletes and controls, resulting in low energy availability in rink-hockey players. • Mean intakes of fat were above the recommended levels, and micronutrients intakes were inappropriate in athletes with consequences for their health and performance.

Micronutrient deficiencies in inflammatory bowel disease.

PURPOSE OF REVIEW: Malnutrition, protein-energy, and micronutrient deficiencies are common among patients with inflammatory bowel disease (IBD). The deficiencies are a manifestation of the complicated disease and a cause of morbidity. The present review summarizes recent advances and evidence-based knowledge regarding micronutrients in relation to patients with IBD. RECENT FINDINGS: Micronutrient deficiencies occur in more than half of patients with IBD. Most common are deficiencies of iron, B12, vitamin D, vitamin K, folic acid, selenium, zinc, vitamin B6, and vitamin B1. Deficiencies are more common in Crohn's disease than in ulcerative colitis, and more in active disease than at times of remission. Micronutrient deficiency is associated with prolonged and complicated course of disease. Iron deficiency is the most common cause for anemia. Definite diagnosis of B12 deficiency cannot be established by serum levels alone. Vitamin D and vitamin K deficiencies are thought to be associated with heightened inflammatory state. The relationship of these deficiencies with bone disease is controversial. The present review focuses on the significance, epidemiology, treatment options, and recommendations regarding micronutrient deficiencies in IBD. SUMMARY: Micronutrient deficiencies are common and have clinical significance. High suspicion for micronutrient deficiencies is advocated so that treatable causes of morbidity are treated appropriately and late and irreversible sequlae are prevented.

Byler disease: early natural history.

OBJECTIVES: Byler disease, originally described in Amish kindred, results from mutations in ATPase Class I Type 8b Member 1 (ATP8b1). Specific clinical reports of Amish Byler disease were last published 40 years ago. These investigations were directed at the present detailed clinical understanding of the early course of hepatic manifestations of Byler disease. METHODS: This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014. Data were analyzed to the earlier of 24 months of age or partial external biliary diversion. RESULTS: Six children presented between 1 and 135 days of life: 2 presented with newborn direct hyperbilirubinemia, 2 had complications of coagulopathy, 1 had failure to thrive and rickets, and 1 sibling was identified by newborn genetic testing. Intensive fat-soluble vitamin supplementation was required to prevent insufficiencies in vitamins D, E, and K. Hyperbilirubinemia was variable both over time and between children. Serum bile acid levels were elevated, whereas γ-glutamyltranspeptidase levels were low normal. Scratching behavior (pruritus) was intractable in 4 of 6 children with onset between 6 and 12 months of age. Features of portal hypertension were not observed. Partial external biliary diversion was used during the second year of life in 4 children. CONCLUSIONS: Detailed analysis of Byler disease revealed varied disease presentation and course. Nutritional issues and pruritus dominated the clinical picture in the first 2 years of life.

Type 1 diabetes: Syndromes in resource-challenged settings.

Type 1 Diabetes is a complex disorder that is made more complex by the myriad of co-morbid conditions associated with it. Mauriac Syndrome is a well-known but nowadays uncommon condition that presents with growth retardation secondary to poor glycaemic control. Limited Joint Mobility is an often-missed association of diabetes. Its importance lies in the fact that it can cause significant impairment of fine movements in T1DM children. It also indicates poor glycaemic control over a long period of time and can be used as a surrogate marker for development of diabetic microvascular complications. Anaemia in T1DM is protean and can develop due to a combination of nutritional factors, chronic renal disease, coeliac disease and worm infestation. Management is etiological. Vitamin deficiencies are ubiquitous in T1DM and if left untreated, can lead to neurological, haematological and skeletal dysfunction. The best-known co-morbid conditions are the local site reactions clubbed together under the moniker lipodystrophies. These can be either atrophic or hypertrophic and are usually due to repeated injections at the same site, improper technique and needle re-use. Management is often difficult and they are best prevented by appropriate diabetes education and emphasis on proper injection techniques at the time of T1DM diagnosis, with periodic reinforcement. Amyloidosis is a little known condition that shares a lot of features in common with the lipodystrophies and often needs to be differentiated from lipohypertrophy. T1DM is a disease which is often associated with a poor quality of life and these co-morbid conditions also need to be treated for effective general and psychological well-being.

[Impact of bariatric surgery on vitamin metabolisms in obese patients].

AIM: To investigate the impact of bariatric surgery (BS) on the level of vitamins in obese patients. SUBJECTS AND METHODS: One hundred obese patients (78 women and 22 men) aged 19 to 61 years were examined. Controlled gastric banding (CGB) was carried out in 20 patients (mean body mass index (BMI), 41.3 ± 8.2 kg/m2); gastric sleeve resection (GSR) in 40 patients, and gastric shunting (GS) in 40 (the mean BMI in these groups were 41.1 ± 17.8 and 45.9 ± 6.2 kg/m2, respectively). A control group consisted of 10 apparently healthy individuals (BMI, 24.9 ± 3.2 kg/m2). An enzyme immunoassay was used to determine the serum concentrations of vitamins B1, B2, B5, B6, B9, B12, C, and D, niacin, biotin, and retinol-binding protein (RBP) before and 1 year after surgery. RESULTS: All the three groups showed a considerable decrease in the levels of vitamins C, B5, B6, and D, and RBP both prior to and following BS. More than 50% of the patients who had undergone GSR had also a lower baseline niacin level. A year after CGB, GSR, and GS, the number of patents with deficiency of these vitamins remained the same or increased. The majority of patients with the same level of vitamin B2, niacin, and folic acid (FA) were observed to have its decrease a year postsurgery. The concentration of the other test vitamins was also reduced a year after all operations; however, it remained within the normal range. GS had no substantial impact on the concentrations of FA, vitamins B2, B12, B1, and biotin. The lower serum vitamin levels were not accompanied by clinical symptoms in most patients following BS. CONCLUSION: In 80% of the patients with obesity, the levels of vitamins C, B6, and D were decreased to a variable degree. After BS, there was a rise in the number of patients with low serum vitamin C, D, B6, B5, niacin, FA, and RBP concentrations, at the same time the number of patients with FA deficiency increased by more than twice. BS did not significantly affect the metabolism of vitamins B1 B2 B12, and biotin.

Update on primary hypobetalipoproteinemia.

"Primary hypobetalipoproteinemia" refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma. Abetalipoproteinemia and homozygous familial hypobetalipoproteinemia, although caused by mutations in different genes, are clinically indistinguishable. A framework for the clinical follow-up and management of these two disorders has been proposed recently, focusing on monitoring of growth in children and preventing complications by providing specialized dietary advice and fat-soluble vitamin therapeutic regimens. Other recent publications on familial combined hypolipidemia suggest that although a reduction of angiopoietin-like 3 activity may improve insulin sensitivity, complete deficiency also reduces serum cholesterol efflux capacity and increases the risk of early vascular atherosclerotic changes, despite low low-density lipoprotein cholesterol levels. Specialist laboratories offer exon-by-exon sequence analysis for the molecular diagnosis of primary hypobetalipoproteinemia. In the future, massively parallel sequencing of panels of genes involved in dyslipidemia may play a greater role in the diagnosis of these conditions.

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case-control study.

BACKGROUND: Data on the micronutrient levels in children with cystic fibrosis (CF) are not available from developing countries, wherein the nutritional profile of children is quite different from that of Western countries. METHODS: Levels of fat-soluble vitamins (A, D, and E) and trace metals (iron, copper, and zinc) were measured in 27 CF cases and 27 controls. RESULTS: CF cases had significantly low levels of all studied micronutrients compared with controls, and the levels were even lower in cases with exacerbation than in stable CF cases. Prevalence of deficiency of vitamin D, vitamin E, iron, copper, and zinc was significantly higher in cases than in controls, whereas vitamin A deficiency was almost equal in both the groups. CONCLUSION: The prevalence of deficiency of vitamins A, D, and E and iron, copper, and zinc was high in CF cases, and their levels were significantly lower in cases than controls. CF cases should be regularly monitored for these micronutrients, and appropriate supplementation should be considered.

Total serum bilirubin predicts fat-soluble vitamin deficiency better than serum bile acids in infants with biliary atresia.

OBJECTIVE: Fat-soluble vitamin (FSV) deficiency is a well-recognized consequence of cholestatic liver disease and reduced intestinal intraluminal bile acid. We hypothesized that serum bile acid (SBA) would predict biochemical FSV deficiency better than serum total bilirubin (TB) level in infants with biliary atresia. METHODS: Infants enrolled in the Trial of Corticosteroid Therapy in Infants with Biliary Atresia after hepatoportoenterostomy were the subjects of this investigation. Infants received standardized FSV supplementation and monitoring of TB, SBA, and vitamin levels at 1, 3, and 6 months. A logistic regression model was used with the binary indicator variable insufficient/sufficient as the outcome variable. Linear and nonparametric correlations were made between specific vitamin measurement levels and either TB or SBA. RESULTS: The degree of correlation for any particular vitamin at a specific time point was higher with TB than with SBA (higher for TB in 31 circumstances vs 3 circumstances for SBA). Receiver operating characteristic curve shows that TB performed better than SBA (area under the curve 0.998 vs 0.821). Including both TB and SBA did not perform better than TB alone (area under the curve 0.998). CONCLUSIONS: We found that TB was a better predictor of FSV deficiency than SBA in infants with biliary atresia. The role of SBA as a surrogate marker of FSV deficiency in other cholestatic liver diseases, such as progressive familial intrahepatic cholestasis, α-1-antitrypsin deficiency, and Alagille syndrome in which the pathophysiology is dominated by intrahepatic cholestasis, warrants further study.

Vitamin and zinc status pretreatment and posttreatment in patients with inflammatory bowel disease.

Vitamin deficiencies are common in inflammatory bowel disease. Here we present 5-year follow-up data of 61 patients. No folate or vitamin B12 deficiency was identified throughout the study. A daily multivitamin supplement was sufficient to replete 100% of vitamin A-deficient and vitamin E-deficient patients. A total of 52% of vitamin D-deficient patients corrected, but 15% who had normal vitamin D levels at diagnosis developed deficiency. A total of 63% of zinc-deficient patients normalized their zinc status, but 15% developed zinc deficiency at follow-up despite supplementation.