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Nutrition genetic counseling

Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
Pamela Harris-Haman, Lenora Brown, Susan Massey, Sivaranjani Ramamoorthy
Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body's ability to metabolize amino acids. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. With proper screening, along with genetic counseling, nutritional counseling, primary care follow-up, and ongoing monitoring, newborns with MSUD can typically go on to live healthful lives...
June 2017: Nursing for Women's Health
Sabrina Esposito, Simona Bonavita, Maddalena Sparaco, Antonio Gallo, Gioacchino Tedeschi
Multiple sclerosis (MS) is a multifactorial, inflammatory, and neurodegenerative disease of the central nervous system, where environmental factors interact with genetic susceptibility. The role of diet on MS has not been comprehensively elucidated; therefore, through an extensive search of relevant literature, this review reports the most significant evidence regarding nutrition as a possible co-factor influencing the inflammatory cascade by acting on both its molecular pathways and gut microbiota. Since nutritional status and dietary habits in MS patients have not been extensively reported, the lack of a scientific-based consensus on dietary recommendation in MS could encourage many patients to experiment alternative dietetic regimens, increasing the risk of malnutrition...
March 24, 2017: Nutritional Neuroscience
Ken Takahashi, Aiko Sasaki, Seiji Wada, Yuka Wada, Keiko Tsukamoto, Rika Kosaki, Yushi Ito, Haruhiko Sago
There are few reports on the prognosis of prenatally diagnosed trisomy 13 in relation to postnatal management. The aim of this study was to report on the prenatal and postnatal outcomes and postnatal management of trisomy 13 fetuses that were prenatally diagnosed at our center between 2003 and 2015. The data were retrospectively reviewed from medical records. Of the 31 cases of trisomy 13, 12 patients were diagnosed before 22 weeks of gestation, and 19 were diagnosed at or after 22 weeks of gestation. Nine families opted for termination of the pregnancy, 14 fetuses died, and 8 were born alive...
March 7, 2017: American Journal of Medical Genetics. Part A
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
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