A Review of 89 Published Case Studies of Vitamin B12 Deficiency
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Causes of Short Stature Author Alan D Rogol, MD, Phd Section Editors
Causes of short stature Author Alan D Rogol, MD, PhD Section Editors Peter J Snyder, MD Mitchell Geffner, MD Deputy Editor Alison G Hoppin, MD Contributor disclosures All topics are updated as new evidence becomes available and our peer review process is complete. Literature review current through: Mar 2016. | This topic last updated: Aug 13, 2015. INTRODUCTION — Short stature is a term applied to a child whose height is 2 standard deviations (SD) or more below the mean for children of that sex and chronologic age (and ideally of the same racial-ethnic group). This corresponds to a height that is below the 2.3rd percentile. Short stature may be either a variant of normal growth or caused by a disease. The most common causes of short stature beyond the first year or two of life are familial (genetic) short stature and delayed (constitutional) growth, which are normal non-pathologic variants of growth. The goal of the evaluation of a child with short stature is to identify the subset of children with pathologic causes (such as Turner syndrome, inflammatory bowel disease or other underlying systemic disease, or growth hormone deficiency). The evaluation also assesses the severity of the short stature and likely growth trajectory, to facilitate decisions about intervention, if appropriate. This topic will review the main causes of short stature. The diagnostic approach to children with short stature is discussed separately. (See "Diagnostic approach to children and adolescents with short stature".) NORMAL VARIANTS OF GROWTH Familial short stature — Familial or genetic short stature is most often a normal variant, termed familial or genetic short stature (figure 1). -
Recent Insights Into the Role of Vitamin B12 and Vitamin D Upon Cardiovascular Mortality: a Systematic Review
Acta Scientific Pharmaceutical Sciences (ISSN: 2581-5423) Volume 2 Issue 12 December 2018 Review Article Recent Insights into the Role of Vitamin B12 and Vitamin D upon Cardiovascular Mortality: A Systematic Review Raja Chakraverty1 and Pranabesh Chakraborty2* 1Assistant Professor, Bengal School of Technology (A College of Pharmacy), Sugandha, Hooghly, West Bengal, India 2Director (Academic), Bengal School of Technology (A College of Pharmacy),Sugandha, Hooghly, West Bengal, India *Corresponding Author: Pranabesh Chakraborty, Director (Academic), Bengal School of Technology (A College of Pharmacy), Sugandha, Hooghly, West Bengal, India. Received: October 17, 2018; Published: November 22, 2018 Abstract since the pathogenesis of several chronic diseases have been attributed to low concentrations of this vitamin. The present study Vitamin B12 and Vitamin D insufficiency has been observed worldwide at all stages of life. It is a major public health problem, throws light on the causal association of Vitamin B12 to cardiovascular disorders. Several evidences suggested that vitamin D has an effect in cardiovascular diseases thereby reducing the risk. It may happen in case of gene regulation and gene expression the vitamin D receptors in various cells helps in regulation of blood pressure (through renin-angiotensin system), and henceforth modulating the cell growth and proliferation which includes vascular smooth muscle cells and cardiomyocytes functioning. The present review article is based on identifying correct mechanisms and relationships between Vitamin D and such diseases that could be important in future understanding in patient and healthcare policies. There is some reported literature about the causative association between disease (CAD). Numerous retrospective and prospective studies have revealed a consistent, independent relationship of mild hyper- Vitamin B12 deficiency and homocysteinemia, or its role in the development of atherosclerosis and other groups of Coronary artery homocysteinemia with cardiovascular disease and all-cause mortality. -
Family Practice
THE JOURNAL OF FAMILY PRACTICE Emmanuel Andrès, MD, B12 deficiency: A look beyond Laure Federici, MD, Stéphan Affenberger, MD pernicious anemia Department of Internal Medicine, Diabetes and Metabolic Diseases, Food-B12 malabsorption—not pernicious anemia—is the Hôpitaux Universitaires de Strasbourg, leading cause of B12 malabsorption. It’s also very subtle Strasbourg, France emmanuel.andres @chru-strasbourg.fr Practice recommendations such as its link to Helicobacter pylori • Mild, preclinical B deficiency infection and long-term antacid and bi- Josep Vidal-Alaball, MD 12 Department of General is associated with food-B12 guanide use. It also requires that you Practice, Cardiff University, malabsorption more often than consider not only a patient’s serum B12 United Kingdom with pernicious anemia. (C) ® Dowdenlevels, but his Health homocysteine Media and meth - Noureddine Henoun ylmalonic acid levels, since they are con- Loukili, PhD • The classic treatment for B 12 Department of Hygiene and deficiency—particularly when the sidered more sensitive indicators of co- 6 Fight against Nosocomial cause is not a dietaryCopyright deficiency—isFor personalbalamin deficiency. use Keyingonly in on these Infections, Hôpital Calmette, 100 to 1000 mcg per month of indicators early will ensure prompt treat- CHRU de Lille, Lille, France cyanocobalamin, IM. (B) ment, which typically includes intramus- cular injections of the vitamin, but which Jacques Zimmer, MD, PhD • Oral crystalline cyanocobalamin could revolve around a more convenient Laboratoire is an effective treatment for food- d’Immunogénétique- option: oral B12. Allergologie, Centre de B12 malabsorption, though it’s Recherche Public de la Santé effectiveness in the long term has (CRP-Santé) de Luxembourg, not been demonstrated. -
Nutrition 102 – Class 3
Nutrition 102 – Class 3 Angel Woolever, RD, CD 1 Nutrition 102 “Introduction to Human Nutrition” second edition Edited by Michael J. Gibney, Susan A. Lanham-New, Aedin Cassidy, and Hester H. Vorster May be purchased online but is not required for the class. 2 Technical Difficulties Contact: Erin Deichman 574.753.1706 [email protected] 3 Questions You may raise your hand and type your question. All questions will be answered at the end of the webinar to save time. 4 Review from Last Week Vitamins E, K, and C What it is Source Function Requirement Absorption Deficiency Toxicity Non-essential compounds Bioflavonoids: Carnitine, Choline, Inositol, Taurine, and Ubiquinone Phytoceuticals 5 Priorities for Today’s Session B Vitamins What they are Source Function Requirement Absorption Deficiency Toxicity 6 7 What Is Vitamin B1 First B Vitamin to be discovered 8 Vitamin B1 Sources Pork – rich source Potatoes Whole-grain cereals Meat Fish 9 Functions of Vitamin B1 Converts carbohydrates into glucose for energy metabolism Strengthens immune system Improves body’s ability to withstand stressful conditions 10 Thiamine Requirements Groups: RDA (mg/day): Infants 0.4 Children 0.7-1.2 Males 1.5 Females 1 Pregnancy 2 Lactation 2 11 Thiamine Absorption Absorbed in the duodenum and proximal jejunum Alcoholics are especially susceptible to thiamine deficiency Excreted in urine, diuresis, and sweat Little storage of thiamine in the body 12 Barriers to Thiamine Absorption Lost into cooking water Unstable to light Exposure to sunlight Destroyed -
Turner Syndrome (TS) Is a Genetic Disease That Affects About Physical Signs of TS May Include: 1 in Every 2,500 Female Live Births
Notes: A Guide for Caregivers For easily accessible answers, education, and support, visit Nutropin.com or call 1-866-NUTROPIN (1-866-688-7674). 18 19 of patients with Your healthcare team is your primary source Turner Syndrome of information about your child’s treatment. Please see the accompanying full Prescribing Information, including Instructions for Use, and additional Important Safety Information througout and on pages 16-18. Models used for illustrative purposes only. Nutropin, Nutropin AQ, and NuSpin are registered trademarks, Nutropin GPS is a trademark, and NuAccess is a service mark of Genentech, Inc. © 2020 Genentech USA, Inc., 1 DNA Way, So. San Francisco, CA 94080 M-US-00005837(v1.0) 06/20 FPO Understanding Turner Syndrome What is Turner Syndrome? Turner Syndrome (TS) is a genetic disease that affects about Physical signs of TS may include: 1 in every 2,500 female live births. TS occurs when one • Short stature of a girl’s two X chromosomes is absent or incomplete. • Webbing of the neck Chromosomes are found in all cells of the human body. They contain the genes that determine the characteristics of a • Low-set, rotated ears person such as the color of hair or eyes. Every person has • Arms that turn out slightly at the elbows 22 pairs of chromosomes containing these characteristics, • Low hairline at the back of the head and one pair of sex chromosomes. • A high, arched palate in the mouth Normally cells in a female’s body contain two “X” chromosomes Biological signs of TS may include: (Fig. 1). • Underdevelopment of the ovaries In girls with TS, part or • Not reaching sexual maturity or starting all of one X chromosome a menstrual period (Fig. -
Current Dosing of Growth Hormone in Children with Growth Hormone Deficiency: How Physiologic?
Current Dosing of Growth Hormone in Children With Growth Hormone Deficiency: How Physiologic? Margaret H. MacGillivray, MD*; Sandra L. Blethen, MD, PhD‡; John G. Buchlis, MD*; Richard R. Clopper, ScD*; David E. Sandberg, PhD*; and Thomas A. Conboy, MS* ABSTRACT. The current doses of recombinant growth ARE THE APPROVED RECOMBINANT HUMAN GH hormone (rGH) are two to three times those used in the DOSING REGIMENS PHYSIOLOGIC? pituitary growth hormone era. These rGH doses (0.025 to A standard method for determining whether hor- 0.043 mg/kg/d) are similar to or moderately greater than mone replacement is physiologic is to compare the the physiologic requirements. Growth velocity and dose of hormone administered with the amount of height gains have been shown to be greater with 0.05 that hormone produced daily in healthy persons. For mg/kg/d of rGH than with 0.025 mg/kg/d. Larger doses of human GH, this is not an easy task because of its GH and early initiation of treatment result in greater short half-life, multicompartmental distribution, and heights at the onset of puberty and greater adult heights. Earlier onset of puberty and more rapid maturation, as episodic pulsatile pattern of secretion. In addition, indicated by bone age, were not observed in children GH has a variable secretion profile that is influenced who were given 0.18 to 0.3 mg/kg/wk of rGH. The fre- by age, diurnal rhythm, sleep, stress, nutrition, body quency of adverse events is very low, but diligent sur- weight, and sex hormones. One approach to calcu- veillance of all children who are treated with rGH is lating daily levels of endogenously produced GH essential. -
בדודקה BEDODEKA ------להזרקה לתוך השריר או מתחת לעור Solution for I.M
"פורמט עלון זה נקבע ע"י משרד הבריאות ותוכנו נבדק ואושר". עלון מאושר: מאי 2011. “This leaflet format has been determined by the Ministry of Health and the content thereof has been checked and approved.” Date of approval: May 2011. עלון לרופא Physician's Package Insert ========================================================================== בדודקה BEDODEKA --------------------------------------------------------------------- להזרקה לתוך השריר או מתחת לעור Solution for I.M. or S.C. Injection Composition Each ampoule of 1 ml contains: Active Ingredient Cyanocobalamin (vitamin B12) 1000 micrograms/ml Other Ingredients Sodium acetate anhydrous, acetic acid glacial, water for injection. Mechanism of Action Vitamin B12 (cyanocobalamin) is essential for growth, cell reproduction, hematopoiesis, and nucleoprotein and myelin synthesis. It has many metabolic interrelationships with the basic nutrients. Its physiological role is associated with methylation, participating in nucleic acid and protein synthesis. Vitamin B12 (cyanocobalamin) is essential for folate utilization with functional folate deficiency resulting from its absence. Indications Pernicious anemia and its neurological complication, subacute combined degeneration of the spinal cord. Treatment of vitamin B12 deficiency states and macrocytic anemias associated with nutritional deficiencies, gastrectomy and abnormalities of, or malabsorption from, the gastrointestinal tract such as celiac disease, sprue and accompanying folic acid deficiency. Bedodeka is also suitable for use as the flushing dose in the Schilling Test for pernicious anemia. Contraindications Known hypersensitivity to vitamin B12, or to any other ingredient of the preparation. Bedodeka is not indicated for treatment of toxic amblyopias. Warnings An intradermal sensitivity test may be performed in patients with suspected hypersensitivity to cobalamins. It is important to accurately diagnose anemias prior to treatment, to ensure that appropriate therapy is initiated. -
Obese Children and Adolescents: a Risk Group for Low Vitamin B12
ARTICLE Obese Children and Adolescents A Risk Group for Low Vitamin B12 Concentration Orit Pinhas-Hamiel, MD; Noa Doron-Panush, RD; Brian Reichman, MD; Dorit Nitzan-Kaluski, MD, MPH, RD; Shlomit Shalitin, MD; Liat Geva-Lerner, MD Objective: To assess whether overweight children and Results: Median concentration of serum B12 in normal- adolescents are at an increased risk for vitamin B12 deficiency. weight children was 530 pg/mL and in obese children, Ͻ 400 pg/mL (P .001). Low B12 concentrations were noted Design: Prospective descriptive study. in 10.4% of the obese children compared with only 2.2% Ͻ of the normal weight group (P .001). Vitamin B12 defi- Setting: Two pediatric endocrine centers in Israel. ciency was noted in 12 children, 8 (4.9%) of the obese subjects and 4 (1.8%) of the normal weight group (P=.08). Participants: Three hundred ninety-two children and After we adjusted for age and sex, obesity was associ- adolescents were divided into 2 groups as follows: the ated with a 4.3-fold risk for low serum B12, and each unit normal-weight group had body mass indexes, calcu- increase in body mass index standard deviation score re- lated as weight in kilograms divided by height in meters sulted in an increased risk of 1.24 (95% confidence in- squared, under the 95th percentile (Ͻ1.645 standard de- terval, 0.99-1.56). viation scores; n=228); the obese group had body mass indexes equal to or above the 95th percentile (Ն1.645 standard deviation scores; n=164). Conclusions: Obesity in children and adolescents was associated with an increased risk of low vitamin B12 con- Intervention: We measured vitamin B12 concentra- centration. -
Assessing the Intergenerational Linkage Between Short Maternal Stature and Under-Five Stunting and Wasting in Bangladesh
nutrients Article Assessing the Intergenerational Linkage between Short Maternal Stature and Under-Five Stunting and Wasting in Bangladesh Wajiha Khatun 1,*, Sabrina Rasheed 2 , Ashraful Alam 1 , Tanvir M. Huda 1 and Michael J. Dibley 1 1 Sydney School of Public Health, Edward Ford Building (A27), University of Sydney, Sydney, NSW 2006, Australia 2 International Centre for Diarrhoeal Disease Research Bangladesh, Mohakhali, Dhaka 1212, Bangladesh * Correspondence: [email protected]; Tel.: +61-88-017-4608-6278 Received: 30 May 2019; Accepted: 13 July 2019; Published: 7 August 2019 Abstract: Short maternal stature is identified as a strong predictor of offspring undernutrition in low and middle-income countries. However, there is limited information to confirm an intergenerational link between maternal and under-five undernutrition in Bangladesh. Therefore, this study aimed to assess the association between short maternal stature and offspring stunting and wasting in Bangladesh. For analysis, this study pooled the data from four rounds of Bangladesh Demographic and Health Surveys (BDHS) 2004, 2007, 2011, and 2014 that included about 28,123 singleton children aged 0–59 months born to mothers aged 15–49 years. Data on sociodemographic factors, birth history, and anthropometry were analyzed using STATA 14.2 to perform a multivariable model using ‘Modified Poisson Regression’ with step-wise backward elimination procedures. In an adjusted model, every 1 cm increase in maternal height significantly reduced the risk of stunting (relative risks (RR) = 0.960; 95% confidence interval (CI): 0.957, 0.962) and wasting (RR = 0.986; 95% CI: 0.980, 0.992). The children of the short statured mothers (<145 cm) had about two times greater risk of stunting and three times the risk of severe stunting, 1.28 times the risk of wasting, and 1.43 times the risk of severe wasting (RR = 1.43; 95% CI: 1.11, 1.83) than the tall mothers ( 155 cm). -
Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children with X-Linked Hypophosphatemic Rickets
Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children With X-Linked Hypophosphatemic Rickets Dieter Haffner, MD*; Richard Nissel, MD*; Elke Wu¨hl, MD‡; and Otto Mehls, MD‡ ABSTRACT. Background. X-linked hypophosphatemic in the PHEX gene, encoding a membrane-bound en- rickets (XLH) is characterized by rickets, disproportion- dopeptidase. PHEX is expressed in bones and teeth ate short stature, and impaired renal phosphate reabsorp- but not in kidney, and efforts are underway to elu- tion and vitamin D metabolism. Despite oral phosphate cidate how PHEX function relates to the mutant phe- and vitamin D treatment, most children with XLH dem- notype.2 onstrate reduced adult height. Pharmacologic treatment consists of oral phos- Objective. To determine the beneficial effects of re- combinant human growth hormone (rhGH) therapy on phate supplementation and calcitriol administration. body proportions and adult height among patients with Although this therapy usually leads to an improve- XLH. ment of rickets, the effects on longitudinal growth Methods. Three initially prepubertal short children are often disappointing.3 Despite adequate phos- (age, 9.4–12.9 years) with XLH were treated with rhGH phate and calcitriol treatment, most previous studies for 3.1 to 6.3 years until adult height was attained. reported reduced adult height among children with Results. rhGH treatment led to sustained increases in XLH.4–7 In addition, children with XLH present with standardized height for all children. The median adult disproportionate growth, ie, relatively preserved height was 0.9 SD (range: 0.5–1.3 SD) greater than that at trunk growth but severely diminished leg growth.8 the initiation of rhGH treatment and exceeded the pre- Previous studies demonstrated that treatment with dicted adult height by 6.2 cm (range: 5.3–9.8 cm). -
VI.2 Elements for a Public Summary VI.2.1 Overview of Disease Epidemiology Vitamin B12 Deficiency Can Have a Number of Possible
VI.2 Elements for a public summary VI.2.1 Overview of disease epidemiology Vitamin B12 deficiency can have a number of possible causes. Typically it occurs in people whose digestive systems do not adequately absorb the vitamin from the foods they eat. This can be caused by: Pernicious anemia, a condition in where there is a lack of a protein called intrinsic factor. The protein, which is made in the stomach, is necessary for vitamin B12 absorption. Other causes can be gastritis, surgery in which part of the stomach and/or small intestine is removed or conditions affecting the small intestine. Vitamin B12 deficiency can also occur in pregnancy and with long- term use of acid-reducing drugs. VI.2.2 Summary of treatment benefits A deficiency of vitamin B12 (cobalamin) is manifested by fatigue, weakness, mood fluctuations, memory loss, limb weakness, difficulty walking, tingling, and paralysis. Drug treatment involves the administration of vitamin B12 by injection. If the deficiency of vitamin B12 (cobalamin) depends on the underlying disease being resolved, the vitamin supplementation continues until normal levels of vitamin B12 are achieved. If the deficiency state cannot be resolved (e.g. inadequate secretion of intrinsic factor, genetic abnormalities related to the site absorption, etc.) therapy should be continued for life. VI.2.3 Unknowns relating to treatment benefits None. VI.2.4 Summary of safety concerns Risk What is known Preventability Damage to the optic nerve Optic nerve atrophy/blindness The product should be used (atrophy)/blindness in is a risk associated with with caution. patients with Leber´s disease treatment with (a disease that affects the hydroxocobalamin in patients optic nerve and often causes with Leber´s disease. -
Pathogenesis and Diagnostic Criteria for Rickets and Osteomalacia
Endocrine Journal 2015, 62 (8), 665-671 OPINION Pathogenesis and diagnostic criteria for rickets and osteomalacia —Proposal by an expert panel supported by Ministry of Health, Labour and Welfare, Japan, The Japanese Society for Bone and Mineral Research and The Japan Endocrine Society Seiji Fukumoto1), Keiichi Ozono2), Toshimi Michigami3), Masanori Minagawa4), Ryo Okazaki5), Toshitsugu Sugimoto6), Yasuhiro Takeuchi7) and Toshio Matsumoto1) 1)Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan 2)Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan 3)Department of Bone and Mineral Research, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi 594-1101, Japan 4)Department of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, Japan 5)Third Department of Medicine, Teikyo University Chiba Medical Center, Ichihara 299-0111, Japan 6)Internal Medicine 1, Shimane University Faculty of Medicine, Izumo 693-8501, Japan 7)Division of Endocrinology, Toranomon Hospital Endocrine Center, Tokyo 105-8470, Japan Abstract. Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for rickets and osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases.