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Nutrition genetic counseling

Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya
BACKGROUND: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations...
December 20, 2016: Journal of Medical Case Reports
Sonia Puri, Anupama Dhiman, Sagar Bansal
Premarital Health Counseling (PMHC) is emerging as a growing trend worldwide. The couples are provided with accurate and unbiased information and assistance, who are planning to get marry with the aim of screening, educating, and counseling about nutritional disorders, communicable diseases, medical conditions, hereditary/genetic disorders, and guiding for a healthy pregnancy. Premarital screening and adequate counseling are essential for changing attitudes toward consanguineous marriage particularly in places where consanguineous and "tribal" marriages are common, resulting in a high incidence of genetic disorders...
October 2016: Indian Journal of Public Health
Wassihun Nega, Meku Damte, Yonas Girma, Getachew Desta, Mengistu Hailemariam
BACKGROUND: Craniopagus parasiticus is rare with an incidence of approximately four to six cases in 10,000,000 births. In our case, the head of the parasitic twin protruded from the temporal area of the normal twin's cranium. The parasitic twin had two deformed lower limbs, of which one was rudimentary, and long bones of the bilateral lower limbs and some pelvic bone. Dissection of the mass of the parasitic twin's body revealed the intestine but no chest organs or abdominal organs. There was a rudimentary labium but no vaginal opening...
December 1, 2016: Journal of Medical Case Reports
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
Nassim H Abi Chahine, Tarek W Wehbe, Ramzi A Hilal, Victoria V Zoghbi, Alia E Melki, Emil B Bou Habib
Cerebral Palsy (CP) is a disabling condition that affects a child's life and his/her family irreversibly. It is usually a non-progressive condition but improvement over time is rarely seen. The condition can be due to prenatal hypoxia, metabolic, genetic, infectious, traumatic or other causes. It is therefore a heterogeneous group that results in functional motor disability associated with different degrees of cognitive abnormalities. There are no treatments that can cure or even improve CP and the best available approach aims at functional, social and nutritional supportive care and counseling...
May 30, 2016: International Journal of Stem Cells
Eloïse Giabicani, Irène Netchine, Frédéric Brioude
PURPOSE OF REVIEW: The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS). RECENT FINDINGS: Various teams have described the clinical characteristics of SRS patients by genotype. A clinical score for the definition of SRS and for orienting molecular investigations has emerged. Insulin-like growth factor 2 (a major fetal growth factor) has been implicated in the pathophysiology of SRS, as the principle molecular mechanism underlying the disease is loss of methylation of the 11p15 region, including the imprinted insulin-like growth factor 2 gene...
August 2016: Current Opinion in Pediatrics
Stephen J Genuis, Rebecca A Genuis
Emerging research suggests that much pediatric affliction has origins in the vulnerable phase of fetal development. Prenatal factors including deficiency of various nutrients and exposure to assorted toxicants are major etiological determinants of myriad obstetrical complications, pediatric chronic diseases, and perhaps some genetic mutations. With recent recognition that modifiable environmental determinants, rather than genetic predestination, are the etiological source of most chronic illness, modification of environmental factors prior to conception offers the possibility of precluding various mental and physical health conditions...
2016: BioMed Research International
John M Quillin
Hereditary cancer genetic counseling often focuses on medically intensive risk-reduction strategies, like imaging and risk-reducing surgeries. Lifestyle factors also influence cancer risk, but health behavior counseling is not common in genetic counseling. Information about typical lifestyle risk factors among patients seeking hereditary cancer risk is sparse. The current study describes cancer risk-relevant lifestyle factors for people who have had cancer genetic testing. Data came from the Health Information National Trends Survey (HINTS 4) collected in 2013...
October 2016: Journal of Genetic Counseling
Thimmaiah G Theethira, Melinda Dennis
BACKGROUND: Celiac disease (CD) is a chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically susceptible individuals. CD-related enteropathy leads to multiple nutritional deficiencies involving macro- and micronutrients. Currently, medical nutrition therapy consisting of the gluten-free diet (GFD) is the only accepted treatment for CD. KEY MESSAGES: The GFD is the cornerstone of treatment for CD. Prior published studies have concluded that maintenance of the GFD results in improvement of the majority of nutritional deficiencies...
2015: Digestive Diseases
Yulia Treister-Goltzman, Roni Peleg
This review surveys the literature published on the characteristics and implications of pre-diabetes and type 2 diabetes mellitus (T2DM) for the Arab and Bedouin populations of Israel. T2DM is a global health problem. The rapid rise in its prevalence in the Arab and Bedouin populations in Israel is responsible for their lower life expectancy compared to Israeli Jews. The increased prevalence of T2DM corresponds to increased rates of obesity in these populations. A major risk group is adult Arab women aged 55-64 years...
February 15, 2015: World Journal of Diabetes
Keith I Block, Penny B Block, Charlotte Gyllenhaal
Integrative medicine is an approach to health and healing that "makes use of all appropriate therapeutic approaches, health care professionals, and disciplines to achieve optimal health and healing." A comprehensive integrative medicine intervention for cancer patients typically includes nutritional counseling, biobehavioral strategies, and promotion of physical activity, as well as dietary supplements including herbs, nutraceuticals, and phytochemicals. A broad-spectrum intervention of this type may contribute uniquely to improvement in cancer outcomes through its impact on a wide variety of relevant molecular targets, including effects on multiple cancer hallmarks...
March 2015: Integrative Cancer Therapies
Priya S Kishnani, Stephanie L Austin, Jose E Abdenur, Pamela Arn, Deeksha S Bali, Anne Boney, Wendy K Chung, Aditi I Dagli, David Dale, Dwight Koeberl, Michael J Somers, Stephanie Burns Wechsler, David A Weinstein, Joseph I Wolfsdorf, Michael S Watson
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib), resulting in excessive accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation...
November 2014: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Taryn M Edwards, Diane L Spatz
Congenital hyperinsulinism is a genetic condition causing dysregulation of insulin and results in persistent hypoglycemia. The most common types are sulfonylurea receptor (SUR1), potassium inward rectifying channel (Kir6.2), glutamate dehydrogenase (GDH), and glucokinase (GK), with SUR1 and Kir6.2 being the most prevalent. It is imperative that these infants undergo diagnostic testing, which includes genetic, neonatal fasting study to induce hypoglycemia, glucagon stimulation, and imaging. Once a diagnosis has been made, surgical intervention may be needed to help regulate blood glucose levels...
August 2014: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Maria N Kelly, Sanjeev Y Tuli, Sonal S Tuli, Mori A Stern, Beverly P Giordano
Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013)...
January 2015: Journal of Pediatric Health Care
Carlos Iglesias, Manish Banker, Nalini Mahajan, Leyre Herrero, Marcos Meseguer, Juan A Garcia-Velasco
OBJECTIVE: To investigate differences in ovarian reserve markers (antimüllerian hormone [AMH] and antral follicle count [AFC]) in Indian and Spanish women. DESIGN: Cross-sectional study. SETTING: In vitro fertilization (IVF) clinics. PATIENT(S): Infertile Spanish (n=229) and Indian (n=236) women who underwent controlled ovarian stimulation for IVF from January to October 2012. INTERVENTION(S): None...
July 2014: Fertility and Sterility
Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva
INTRODUCTION: Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy. The aim of this study is to describe the clinical, biochemical, and histopathological findings in a group of Mexican HT1 patients and their outcome. MATERIAL AND METHODS: Medical records of HT1 patients diagnosed between 1995 and 2011 were analyzed. The diagnosis of HT1 was confirmed by detection of succinylacetone in urine or blood...
March 2014: Annals of Hepatology
Sarah A Bannon, Maureen Mork, Eduardo Vilar, Susan K Peterson, Karen Lu, Patrick M Lynch, Miguel A Rodriguez-Bigas, Yiqian Nancy You
BACKGROUND: Patients with Lynch Syndrome, the most common hereditary colorectal cancer syndrome, benefit from genetic education and family counseling regarding diagnostic testing and cancer surveillance/prevention recommendations. Although genetic counseling is currently the most common venue where such education and counseling takes place, little is known about the level of disease knowledge and education needs as directly reported by patients and families with Lynch Syndrome. Furthermore, experiences with forums for larger-scale knowledge transfer have been limited in the current literature...
2014: Hereditary Cancer in Clinical Practice
D Catalano, G M Trovato, A Ragusa, G F Martines, A Tonzuso, C Pirri, M A Buccheri, F M Trovato
INTRODUCTION: Non-Alcoholic Fatty Liver Disease (NAFLD) is related to unhealthy habits, mainly to unfavorable dietary profiles. MTHFR gene encodes MethyleneTetraHydroFolate Reductase, a regulatory enzyme whose polymorphisms are associated with hyperhomocysteinemia. Among polymorphisms, C677T, a thermolabile form, but not A1298C, thermostable, was associated with fatty liver and insulin resistance. AIM: to investigate if NAFLD, in subjects referred for nutritional assessment and counselling, has any difference of prevalence and severity when associated with isolated MTHFR A1298C polymorphism and hyperhomocysteinemia...
2014: European Review for Medical and Pharmacological Sciences
Pieter Bonte, Guido Pennings, Sigrid Sterckx
BACKGROUND: The preventative paradigm of preconception care is receiving increasing attention, yet its boundaries remain vague in three respects: temporally; agentially; and instrumentally. Crucially, it remains unclear just who is to be considered a 'potential parent', how soon they should take up preconception responsibilities, and how weighty their responsibilities should be. DISCUSSION: In this paper, we argue that a normal potential parent of reasonable prudence has a moral duty to adequately optimize the conditions under which she or his reproductive partner will conceive, though a proportionality calculus calls for toleration of several forms of preconception behaviour that are non-ideal from the perspective of reproductive risk...
2014: BMC Medical Ethics
Marlene Remely, Eva Aumueller, Christine Merold, Simone Dworzak, Berit Hippe, Julia Zanner, Angelika Pointner, Helmut Brath, Alexander G Haslberger
The human gut microbiota and microbial influences on lipid and glucose metabolism, satiety, and chronic low-grade inflammation are known to be involved in metabolic syndrome. Fermentation end products, especially short chain fatty acids, are believed to engage the epigenetic regulation of inflammatory reactions via FFARs (free fatty acid receptor) and other short chain fatty acid receptors. We studied a potential interaction of the microbiota with epigenetic regulation in obese and type 2 diabetes patients compared to a lean control group over a four month intervention period...
March 1, 2014: Gene
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