NCOS 2019 What to Expect When Your Patient Is Expecting .Pptx

Total Page:16

File Type:pdf, Size:1020Kb

NCOS 2019 What to Expect When Your Patient Is Expecting .Pptx 5/28/19 Congratulations, you’re Disclosures What to Expect When pregnant!.... Your Patients Expecting • None Cecelia Koetting, OD FAAO Virginia Eye Consultants Norfolk, VA Now, here’s a list of all the New FDA Pregnancy and But why are we worried things to worry about . Lactation Categories • Spontaneous abortion of the pregnancy • 8.1 Pregnancy includes labor and delivery • Transference of medication both during pregnancy • 8.2 Lactation including nursing mothers and during breastfeeding • Causing complications during pregnancy for both • 8.3 Females and males of reproductive Potential mother and child • Birth defect rates from medication use • Topical vs Oral Old FDA Pregnancy and Lactation Categories Optometrist Prescribing • Category A • Category D • The safest drugs to take during pregnancy. Controlled studies • There is positive evidence of potential fetal risk, but the for Pregnant Patients show no risk or find no evidence of harm benefits from use in pregnant women may be acceptable despite the risk (i.e. life threatening • Category B condition to mother). • Animal Studies show no risks but there are no controlled studies on pregnant women • Category X • Category C • Studies in animals or human beings have demonstrated fetal abnormalities, or there is evidence of fetal risk. • Animal studies have shown risk to the fetus, there are no The drug is contraindicated in women who are or may controlled studies in women, or studies in women and become pregnant. animals are not available. 1 5/28/19 When in doubt….. Oral Medication Oral Medication • Can NOT be prescribed • CAN be prescribed • Antibiotic • Antivirals Contact the patients OB/GYN • Oral Acyclovir, Valcyclovir and Famcyclovir • Chloramphenicol, neomycin, ciprofloxacin, doxycycline, • Category B tetracycline, sulfonamides, trimethoprim • Oral Acyclovir is OK for lactating women • Systemic tobramycin is category D • Antibiotics • Pain relief • Often needed for skin and soft tissue infections • Augmentin, erythromycin, azithromycin, amoxicillin • Codeine, ibuprofen/Motrin • Category B • Steroids • Pain relief • Category C • Tylenol • Contraindicated due to their teratogenic effect and role in CSR • Tylenol #3 (short term) • Call OB/GYN • In breastfeeding patients Hydrocodone is preferred • Alternative therapy: meditation and acupuncture during certain trimesters Topical Medications Topical Medications Topical Medications • Dilation drops • Allergy drops • Antibiotics drops • Occasional is acceptable: risk vs benefit • All except Lastacaft are category C • Similar to oral • Alternative: consider shorter acting agents and not recommended • Fluoroquinolones used when benefits>risk, consult OB/ • Tropicamide 0.5% GYN • Category C • SE shown in studies to fetus • Anesthetic • NO phenylephrine • Tobramycin category B, safe for use • Proparicaine is Category C • May cause fetus heart to beat to slowly or cause birth • Less severe bacterial infection defects • Erythromycin, polymyxin B, topical azithromycin • Minor fetal malformations reported with use of systemic phenylephrine, atropine and homatropine • Severe ulcers or bacterial keratitis • Fortified cephalosporin's category B Topical Medications Misc • Glaucoma drops • Steroids • Anti-VEGF • Most are category C • Unlike oral, no known teratogenic effect however is • Systemic absorption is low • Prostaglandins have concern for induction of labor and category C miscarriage • Bevacizumab can’t cross the placenta barrier but is • Beta blockers caution in first trimester and discontinued • Restasis category C shortly before birth to prevent neonatal beta blockade • Could still affect placental vasculature • Category C • CAI has teratogenic and hepatorenal effects • Ranibizumab is category C • Miotic appear to be safe but are still category C • Decrease systemic absorption • pegaptanib (Macugen) is category B • Alphagan is category B • • DO NOT use in lactation, can cause sleep apnea and CNS Punctal occlusion? depression in infant • Punctal plugs? • No oral diamox 2 5/28/19 Ocular and Systemic Refractive Shifts Refractive Shifts Changes During • Studies show approximately 40-75% of pregnant women • Hormonal changes during first trimester causes changes in experience a change in their distance vision Pregnancy thickness of the cornea • Mehdizadehkashi et al. • Water retention • Second trimester • 51% DVA OU affected • Increase in lens curvature • 11% NVA OU affected • Third trimester • Accommodation loss and insufficiency • 74.7% DVA OU affected • Resolve shortly after breastfeeding discontinued • 20..2% NVA OU affected • Other less common causes • Postnatal 8.2% DVA and 4% NVA still affected at • Shifts in cataracts, DM, accommodative spasm • Most studies found women's vision returned to pre- • Usually a myopic shift but hyperopic can also occur pregnancy refractive error shortly after birth and cessation of breast feeding Dry Eye Disease Dry Eye Disease IOP Variations • Changes to cornea and lacrimal system can lead to • Safe treatments during pregnancy • Studies have found IOP tends to decrease during pressure DED or worsening of pre-existing DED • Punctal Plugs • 19.6% reduction in patients with normal IOP • Changes have been noted in tear film physiology • Artificial tears • 24.4% reduction for OHTN patients • Possible immune reaction to the lacrimal duct cells and • Omega 3 and 6 Fatty Acids • Possible Explanation: destruction of acinar cells by prolactine • Steroids? • Increased aqueous outflow • Physical dehydration from nausea and vomiting • Category C • Lower episcleral venous pressure due to decreased systemic • Restasis? vascular resistance • Secondary contact lens intolerance • Category C • Lower scleral rigidity resultant of increased tissue elasticity • Xiidra? • General acidosis during pregnancy • Decrease in corneal sensitivity in third trimester • No category assigned, data not available • Returns to normal approx 2 months post partum Whats this? Adnexa Changes Whats this? • Increased pigmentation around the eyes may occur • “pregnancy mask”, Cloasma, or melasma • Caused by increased estrogen, progesterone and melanocyte stimulating hormone • Occasional unilateral ptosis occurs • Returns to prior position after delivery • Thought to be result of fluid and hormonal effects on the levator aponeurosis 3 5/28/19 Gestational Diabetes Diabetic Retinopathy AOA Practice Guidelines • Like other types of diabetes, gestational affects how • Patients who already have DM and diabetic • Gestational Diabetes your body uses glucose retinopathy may note quick progression • Occurs in second to third trimester and glucose • Pt with NPDR show 50% progression during tolerance usually returns to normal within 6 weeks after • Gestational DM has a small risk of developing pregnancy pregnancy ends retinopathy • 5-20% pts with serve NPDR progress to PDR • Since it is relatively short and temporary it does not • 10% pt without DR prior to pregnancy develop NPDR • Up to 45% progression can be seen in pts who already have a high likelihood they will develop retinopathy during pregnancy have PDR • Retinal evaluation for diabetic retinopathy in these • Baseline examination in first trimester is usually patients is not indicated sufficient when pt is absent of visual symptoms AOA Practice Guideline Whats this? Preeclampsia/Eclampsia • Diabetes Mellitus Type I and II • Preeclampsia triad in a normotensive pregnant woman • Women with pre-existing diabetes who are planning on • BP > 140/90mmHg being pregnant or become pregnant • Edema • Should have a comprehensive eye exam prior to planned • Proteinuria after week 20 of pregnancy pregnancy or during first trimester • Should have a follow-up each trimester of pregnancy • This triad plus contractions without any other cause is eclampsia Idiopathic Intracranial Preeclampsia/Eclampsia Multiple Sclerosis Hypertension • • Increased intracranial pressure with no known cause • Preeclampsia incidence is 5% Patients with MS may note a decrease in attacks during pregnancy causing bilateral edematous ONH • Ocular sequelae in 1 out of 3 • Visual field defects, OCTG elevation • Blurred vision • Will possibly increase the first 3 months postpartum • Photopsia • Diplopia and photopsia less often • Optic Neuritis may occur as a result of immune • Scotoma • Headaches and tinitis medicated changes • Diplopia • Caused by increase in weight during pregnancy that • Signs of retinopathy mimic HTN retinopathy triggers and overproduction of CSF • Most common finding retinal arteriolar narrowing • Will return to normal after patient is post partum 4 5/28/19 IIH Treatment • Diagnosis with MRI without contrast of brain and orbit followed by LP to confirm diagnosis • Based on exclusion • Pts are usually monitored with no treatement given the possible side effects to the fetus from Diamox and Topamax • Serial LP throughout pregnancy and sometimes a tube shunt or OHN fenestration if vision is at high risk What’s causing this? Pituitary Adenoma Pituitary Gland • Previously asymptomatic PA or microadenomas • Patients without a pituitary adenoma can also may grow during pregnancy experience visual field defects when the pituitary • Headaches, gland grows during pregnancy • visual field changes (bitemporal) • Can mimic PA VF defects with a bitemporal defect • Decreased VA • After pregnancy will usually shrink • If patient is known to have this prior to pregnancy, should monitor with visual fields for tumor growth What's this? Graves disease Whats this? • Most common cause of hyperthyroidism during pregnancy • May exacerbate
Recommended publications
  • Surgical Approach to the Treatment of Gynecomastia According to Its Classification
    ARTIGO ORIGINAL Abordagem cirúrgica para o tratamentoVendraminFranco da T ginecomastia FSet al.et al. conforme sua classificação Abordagem cirúrgica para o tratamento da ginecomastia conforme sua classificação Surgical approach to the treatment of gynecomastia according to its classification MÁRIO MÚCIO MAIA DE RESUMO MEDEIROS1 Introdução: A ginecomastia é a proliferação benigna mais comum do tecido glandular da mama masculina, causada pela alteração do equilíbrio entre as concentrações de estrógeno e andrógeno. Na maioria dos casos, o principal tratamento é a cirurgia. O objetivo deste tra- balho foi demonstrar a aplicabilidade das técnicas cirúrgicas consagradas para a correção da ginecomastia, de acordo com a classificação de Simon, e apresentar uma nova contribuição. Método: Este trabalho foi realizado no período de março de 2009 a março de 2011, sendo incluídos 32 pacientes do sexo masculino, com idades entre 13 anos e 45 anos. A escolha da incisão foi relacionada à necessidade ou não de ressecção de pele. Foram utilizadas quatro técnicas da literatura e uma modificação da técnica por incisão circular com prolongamentos inferior, superior, lateral e medial, quando havia excesso de pele também no polo inferior da mama. Resultados: A principal causa da ginecomastia identificada entre os pacientes foi idiopática, seguida pela obesidade e pelo uso de esteroides anabolizantes. Conclusões: A técnica mais utilizada foi a incisão periareolar inferior proposta por Webster, quando não houve necessidade de ressecção de pele. Na presença de excesso de pele, a técnica escolhi- da variou de acordo com a quantidade do tecido a ser ressecado. A nova técnica proposta permitiu maior remoção do tecido dermocutâneo glandular e gorduroso da mama, quando comparada às demais técnicas utilizadas na experiência do cirurgião.
    [Show full text]
  • Case-Scenario-10-FINAL.Pdf
    Case scenario 10 – Magdalena Part 1 • Magdalena is 26 years old. She is 13 weeks pregnant and had a high chance combined test result of 1 in 140 for trisomy 13 with an NT measurement of 2.4mm. • After a lengthy discussion about her options, she decided to have NIPT. • The results reported a greater than 60% chance of the baby having Patau’s syndrome. She decided to have an invasive test. A CVS was performed. Would you have offered a CVS to this patient? a) No - she should be offered an amniocentesis only, due to the chance of placental factors affecting a result. b) Yes - the patient should be informed of risks and benefits of both CVS and amniocentesis. Answer b) Yes - the patient should be informed of the risks and benefits of a CVS and amniocentesis. Additional note A patient/couple should be informed of the options of both forms of diagnostic procedures. They should be informed of the benefits and limitations of each test, this should include timing of testing, possible results and risks of miscarriage. This discussion should also include the couples ethical, religious, social and individual beliefs. Name the type of mosaicism that can cause a false-positive result with NIPT. a) Feto-placental mosaicism b) Placental mosaicism c) Fetal mosaicism Answer b) Placental mosaicism Additional note There is a discrepancy of the cell line in the placenta and baby. The abnormal cell lines are seen in the placenta and not on the fetus. There is a small chance that a 'high chance report is caused by 'placental mosaicism', therefore a CVS may also report 'mosaicism’.
    [Show full text]
  • Incidence of Eclampsia with HELLP Syndrome and Associated Mortality in Latin America
    International Journal of Gynecology and Obstetrics 129 (2015) 219–222 Contents lists available at ScienceDirect International Journal of Gynecology and Obstetrics journal homepage: www.elsevier.com/locate/ijgo CLINICAL ARTICLE Incidence of eclampsia with HELLP syndrome and associated mortality in Latin America Paulino Vigil-De Gracia a,⁎, José Rojas-Suarez b, Edwin Ramos c, Osvaldo Reyes d, Jorge Collantes e, Arelys Quintero f,ErasmoHuertasg, Andrés Calle h, Eduardo Turcios i,VicenteY.Chonj a Critical Care Unit, Department of Obstetrics and Gynecology, Complejo Hospitalario de la Caja de Seguro Social, Panama City, Panama b Critical Care Unit, Clínica de Maternidad Rafael Calvo, Cartagena, Colombia c Department of Gynecology and Obstetrics, Hospital Universitario Dr Luis Razetti, Barcelona, Venezuela d Unit of Research, Department of Gynecology and Obstetrics, Hospital Santo Tomás, Panama City, Panama e Department of Gynecology and Obstetrics, Hospital Regional de Cojamarca, Cajamarca, Peru f Department of Gynecology and Obstetrics, Hospital José Domingo de Obaldía, David, Panama g Unit of Perinatology, Department of Gynecology and Obstetrics, Instituto Nacional Materno Perinatal, Lima, Peru h Department of Gynecology and Obstetrics, Hospital Carlos Andrade Marín, Quito, Ecuador i Unit of Research, Department of Gynecology and Obstetrics, Hospital Primero de Mayo de Seguridad Social, San Salvador, El Salvador j Department of Gynecology and Obstetrics, Hospital Teodoro Maldonado Carbo, Guayaquil, Ecuador article info abstract Article history: Objective: To describe the maternal outcome among women with eclampsia with and without HELLP syndrome Received 7 July 2014 (hemolysis, elevated liver enzymes, and low platelet count). Methods: A cross-sectional study of women with Received in revised form 14 November 2014 eclampsia was undertaken in 14 maternity units in Latin America between January 1 and December 31, 2012.
    [Show full text]
  • Survivors of Acute Leukemia Are Less Likely to Have Liveborn Infants Than Are Their
    CHILDHOOD CANCER SURVIVOR STUDY ANALYSIS PROPOSAL STUDY TITLE: Fertility Rates in Long-Term Survivors of Acute Lymphoblastic Leukemia WORKING GROUP AND INVESTIGATORS: Name Telephone Number E-mail Daniel M. Green, M.D. 901-595-5915 [email protected] Vikki Nolan, Ph.D. 901-595-6078 [email protected] Liang Zhu, Ph.D. 901-595-5240 [email protected] Marilyn Stovall, Ph.D. 713-792-3240 [email protected] Sarah Donaldson, M.D. 650-723-6195 [email protected] Les Robison, Ph.D. 901-595-5817 [email protected] Chuck Sklar, M.D. 212-717-3239 [email protected] BACKGROUND AND RATIONALE: Survivors of acute leukemia are less likely to have liveborn infants than are their female siblings (relative risk (RR) =0.63, 95% confidence interval (CI) 0.52 to 0.76). The risk of miscarriage was increased among Childhood Cancer Survivor Study (CCSS) female participants who received craniospinal (RR=2.22, 95% CI 1.36 to 3.64) or cranial irradiation (RR=1.40, 95% CI 1.02 to 1.94). The risk of miscarriage was increased in survivors of acute lymphoblastic leukemia (ALL) (RR=1.60, 95% CI 0.85 to 3.00) and central nervous system tumors (RR=1.33, 95% CI 0.61 to 2.93) although neither risk achieved statistical significance 1. Winther et al. reported that the risk of spontaneous 2 abortion was not increased in survivors of leukemia compared to their sisters (proportion ratio (PR) 1.2, 95% CI 0.7 to 2.0). However those female survivors who received low doses of radiation to the uterus and ovaries, but high doses of radiation to the pituitary had an increased risk of spontaneous abortion (PR 1.8, 95% CI 1.1 to 3.0).
    [Show full text]
  • Vitamin D, Pre-Eclampsia, and Preterm Birth Among Pregnancies at High Risk for Pre-Eclampsia: an Analysis of Data from a Low-Dos
    HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author BJOG. Author Manuscript Author manuscript; Manuscript Author available in PMC 2021 January 29. Published in final edited form as: BJOG. 2017 November ; 124(12): 1874–1882. doi:10.1111/1471-0528.14372. Vitamin D, pre-eclampsia, and preterm birth among pregnancies at high risk for pre-eclampsia: an analysis of data from a low- dose aspirin trial AD Gernanda, HN Simhanb, KM Bacac, S Caritisd, LM Bodnare aDepartment of Nutritional Sciences, The Pennsylvania State University, University Park, PA, USA bDivision of Maternal-Fetal Medicine, Magee-Women’s Hospital and Department of Obstetrics, Gynecology and Reproductive Sciences, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA cDepartment of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA dDepartment of Obstetrics, Gynecology and Reproductive Sciences and Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA eDepartments of Epidemiology and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh Graduate School of Public Health and School of Medicine, Pittsburgh, PA, USA Abstract Objective—To examine the relation between maternal vitamin D status and risk of pre-eclampsia and preterm birth in women at high risk for pre-eclampsia. Design—Analysis of prospectively collected data and blood samples from a trial of prenatal low- dose aspirin. Setting—Thirteen sites across the USA. Population—Women at high risk for pre-eclampsia. Methods—We measured 25-hydroxyvitamin D [25(OH)D] concentrations in stored maternal serum samples drawn at 12–26 weeks’ gestation (n = 822). We used mixed effects models to Correspondence: LM Bodnar, University of Pittsburgh Graduate School of Public Health, A742 Crabtree Hall, 130 DeSoto St, Pittsburgh, PA 15261, USA.
    [Show full text]
  • Role of Maternal Age and Pregnancy History in Risk of Miscarriage
    RESEARCH Role of maternal age and pregnancy history in risk of BMJ: first published as 10.1136/bmj.l869 on 20 March 2019. Downloaded from miscarriage: prospective register based study Maria C Magnus,1,2,3 Allen J Wilcox,1,4 Nils-Halvdan Morken,1,5,6 Clarice R Weinberg,7 Siri E Håberg1 1Centre for Fertility and Health, ABSTRACT Miscarriage and other pregnancy complications might Norwegian Institute of Public OBJECTIVES share underlying causes, which could be biological Health, PO Box 222 Skøyen, To estimate the burden of miscarriage in the conditions or unmeasured common risk factors. N-0213 Oslo, Norway Norwegian population and to evaluate the 2MRC Integrative Epidemiology associations with maternal age and pregnancy history. Unit at the University of Bristol, Introduction Bristol, UK DESIGN 3 Miscarriage is a common outcome of pregnancy, Department of Population Prospective register based study. Health Sciences, Bristol Medical with most studies reporting 12% to 15% loss among School, Bristol, UK SETTING recognised pregnancies by 20 weeks of gestation.1-4 4Epidemiology Branch, National Medical Birth Register of Norway, the Norwegian Quantifying the full burden of miscarriage is Institute of Environmental Patient Register, and the induced abortion register. challenging because rates of pregnancy loss are Health Sciences, Durham, NC, USA PARTICIPANTS high around the time that pregnancies are clinically 5Department of Clinical Science, All Norwegian women that were pregnant between recognised. As a result, the total rate of recognised University of Bergen, Bergen, 2009-13. loss is sensitive to how early women recognise their Norway pregnancies. There are also differences across countries 6 MAIN OUTCOME MEASURE Department of Obstetrics and studies in distinguishing between miscarriage and and Gynecology, Haukeland Risk of miscarriage according to the woman’s age and University Hospital, Bergen, pregnancy history estimated by logistic regression.
    [Show full text]
  • Policy of Interventionist Versus Expectant Management of Severe
    WHO recommendations Policy of interventionist versus expectant management of severe pre-eclampsia before term WHO recommendations Policy of interventionist versus expectant management of severe pre-eclampsia before term WHO recommendations: policy of interventionist versus expectant management of severe pre-eclampsia before term ISBN 978-92-4-155044-4 © World Health Organization 2018 Some rights reserved. This work is available under the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 IGO licence (CC BY-NC-SA 3.0 IGO; https://creativecommons.org/licenses/by-nc-sa/3.0/igo). Under the terms of this licence, you may copy, redistribute and adapt the work for non-commercial purposes, provided the work is appropriately cited, as indicated below. In any use of this work, there should be no suggestion that WHO endorses any specific organization, products or services. The use of the WHO logo is not permitted. If you adapt the work, then you must license your work under the same or equivalent Creative Commons licence. If you create a translation of this work, you should add the following disclaimer along with the suggested citation: “This translation was not created by the World Health Organization (WHO). WHO is not responsible for the content or accuracy of this translation. The original English edition shall be the binding and authentic edition”. Any mediation relating to disputes arising under the licence shall be conducted in accordance with the mediation rules of the World Intellectual Property Organization. Suggested citation. WHO recommendations: policy of interventionist versus expectant management of severe pre-eclampsia before term. Geneva: World Health Organization; 2018.
    [Show full text]
  • Benign Breast Diseases1
    BENIGN BREAST DISEASES PROFFESOR.S.FLORET NORMAL STRUCTURE DEVELOPMENTAL/CONGENITAL • Polythelia • Polymastia • Athelia • Amastia ‐ poland syndrome • Nipple inversion • Nipple retraction • NON‐BREAST DISORDERS • Tietze disease • Sebaceous cyst & other skin disorders. • Monder’s disease BENIGN DISEASE OF BREAST • Fibroadenoma • Fibroadenosis‐ ANDI • Duct ectasia • Periductal papilloma • Infective conditions‐ Mastitis ‐ Breast abscess ‐ Antibioma ‐ Retromammary abscess Trauma –fat necrosis. NIPPLE INVERSION • Congenital abnormality • 20% of women • Bilateral • Creates problem during breast feeding • Cosmetic surgery does not yield normal protuberant nipple. NIPPLE INVERSION NIPPLE RETRACTION • Nipple retraction is a secondary phenomenon due to • Duct ectasia‐ bilateral nipple retarction. • Past surgery • Carcinoma‐ short history,unilateral,palpable mass. NIPPLE RETRACTION ABERRATIONS OF NORMAL DEVELOPMENT AND INVOLUTION (ANDI) • Breast : Physiological dynamic structure. ‐ changes seen throught the life. • They are ‐ developmental & involutional ‐ cyclical & associated with pregnancy and lactation. • The above changes are described under ANDI. PATHOLOGY • The five basic pathological features are: • Cyst formation • Adenosis:increase in glandular issue • Fibrosis • Epitheliosis:proliferation of epithelium lining the ducts & acini. • Papillomatosis:formation of papillomas due to extensive epithelial hyperplasia. ANDI & CARCINOMA • NO RISK: • Mild hyperplasia • Duct ectasia. • SLIGHT INCREASED RISK(1.5‐2TIMES): • Moderate hyperplasia • Papilloma
    [Show full text]
  • Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome
    Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome Prepared and edited by James Macpherson 1 and Abid Sharif 2 following a CMGS Workshop held on 10 th July 2012. 1. Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, SP2 8BJ, U.K. 2. East Midlands Regional Molecular Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, U.K. Guidelines updated by the Association for Clinical Genetic Science (formally Clinical Molecular Genetics Society and Association of Clinical Cytogenetics) approved November 2014. 1. NOMENCLATURE and GENE IDs OMIM Condition Gene name Gene map locus 309550 Fragile X Syndrome FMR1 Xq27.3 309548 FRAXE FMR2 Xq28 2. DESCRIPTION OF DISEASE 2.1 Fragile X Syndrome Fragile X Syndrome is thought to be the commonest single-gene cause of learning disability features in humans with an estimated prevalence of 1 in 4000- 1 in 6000 males, where it causes moderate to severe intellectual and social impairment together with syndromic features including large ears and head, long face and macroorchidism 1. A fragile site (FRAXA) is expressible at the gene locus at Xq27.3, typically in 2-40 % of blood cells in affected males. The pathogenic mutation in most cases is a large expansion (‘full mutation’) in a CGG repeat tract in the first untranslated exon of the gene FMR1, which normally encodes the RNA-binding protein FMRP. Full mutations (from approximately 200 repeats upwards) result in hypermethylation of the DNA in and around the CGG tract, curtailed gene expression and no FMRP being produced 2-4. Smaller expansions of the CGG repeat, or ‘premutations’ are not hypermethylated and hence do not cause Fragile X syndrome, but may show expansion into full mutations over one or more generations.
    [Show full text]
  • Breastfeeding After Breast Surgery-V3-Formatted
    Breastfeeding After Breast and Nipple Surgeries: A Guide for Healthcare Professionals By Diana West, BA, IBCLC, RLC PURPOSE A satisfying breastfeeding relationship is not precluded by insufficient milk production. When measures are taken to protect the milk supply that exists, minimize supplementation, The purpose of this guide is to provide the healthcare and increase milk production when possible, a mother with professional with an understanding of breast and nipple compromised milk production can have a satisfying surgeries and their effects upon lactation and the breastfeeding relationship with her baby. breastfeeding relationship. The effect of breast and nipple surgery upon lactation functionality and breastfeeding dynamics varies according to the type of surgery performed. This guide has delineated discussion of breastfeeding after PREDICTING LACTATION breast and nipple surgeries according to the three broad CAPABILITY AFTER BREAST AND categories: diagnostic, ablative, and therapeutic breast procedures, cosmetic breast surgeries, and nipple surgeries. NIPPLE SURGERIES The reasons, motivations, issues, concerns, stresses, and physical and psychological results share some The aspect of breast and nipple surgeries that is most likely to commonalities, but are largely unique to the type of surgery affect lactation is the surgical treatment of the areola and performed. For this reason, each type of surgery and its nipple. The location, orientation, and length of the incision effect upon lactation will be discussed independently. directly affect lactation capability by severing the parenchyma Methods to assess milk production and an overview of and innervation to the nipple/areolar complex. An incision feeding options to maximize milk production when near or on the areola, particularly in the lower, outer quadrant supplementation is necessary are presented.
    [Show full text]
  • Ophthalmic Associations in Pregnancy
    CLINICAL Ophthalmic associations in pregnancy Queena Qin, Celia Chen, Sudha Cugati PREGNANCY RESULTS in various physiological variation in pregnancy.2 It normally changes in the female body, including in fades slowly after pregnancy and does the eyes. A typical pregnancy results in not need active intervention. Background A range of ocular pathology exists cardiovascular, pulmonary, metabolic, • Cornea – corneal thickness, curvature during pregnancy. Some pre-existing eye hormonal and immunological changes. and sensitivity may be altered during conditions, such as diabetic retinopathy, Hormonal changes occur, with a rise of pregnancy. Corneal thickness and can be exacerbated during pregnancy. oestrogen and progesterone levels to curvature can increase in pregnancy, Other conditions manifest for the first suppress the menstrual cycle.1 especially in the second and third time during pregnancy as a result of The eye, an end organ, undergoes trimesters, and return to normal in complications such as pre-eclampsia changes during pregnancy. Some of the postpartum period.3 Patients who and eclampsia. Early recognition and understanding of the management of these changes exacerbate pre-existing wear contact lenses may experience ophthalmic conditions is crucial. eye conditions, while other conditions intolerance to the use of contact lenses. manifest for the first time during Pregnant women should be advised Objective pregnancy. Early recognition and to delay obtaining a new prescription The aim of this article is to discuss the understanding of management of for glasses or undergoing a contact physiological and pathological changes in the eyes of pregnant women. ophthalmic conditions during pregnancy lens fitting until after delivery. Laser Pathological changes are sub-divided is crucial for the primary care physician.
    [Show full text]
  • ART and Miscarriage Risk Assoc
    27-28 January, Sofia, Bulgaria ART and miscarriage risk Assoc. Prof. Petya Andreeva, MD, PhD D-r Shterev Hospital Dr. Shterev Sofia, BULGARIA HOSPITAL Dr. Shterev Miscarriage rate HOSPITAL 10 % to 15 % of clinical pregnancies have resulted in miscarriage. 1-2% miscarriages / per couples who try to conceive. (Macklon NS et al, 2002; Rai R et al 2006) Dr. Shterev Monthly fecundity rate (MFR) HOSPITAL In humans even in optimal circumstances – clinical recognized pregnancy in one cycle or the so called monthly fecundity rate is around 30 % . In contrast MFR is 80% in baboons and 90% in rabbits. (Chard T, 1991; . Foote RH 1988; Stevens VC 1997) Dr. Shterev Ongoing pregnancy rate HOSPITAL Assisted reproductive technologies (ART) represent average 30 % pregnancy rate. Around 50% of human conception fails implantation. Up to half of implanted embryos fail to progress in ongoing pregnancy. (Macklon N 2002; Macklon N 2014) Dr. Shterev Conception to ongoing pregnancy HOSPITAL Live births -True incidence of pregnancy loss is 30% closer to 50%. Miscarriage - This renders miscarriage as the 40-50% 10 % most common complication of pregnancy Early pregnancy loss 30 % Implantation failure 30 % CONCEPTION Macklon et al, Hum Reproduction Update, 2002 Dr. Shterev Known reasons for miscarriage HOSPITAL Antiphospholipid syndrome Endocrine abnormalities Thyroid dysfunction Diabetes Chromosome aberrations Uterine structural malformation Trombophilias Unknown factors in 50 % of cases. Dr. Shterev Embryo HOSPITAL The enormous rate of early pregnancy loss in humans thought to be as a consequences of two key features of human embryos: 1. High prevalence of chromosomal abnormalities. 2. Invasiveness. Dr. Shterev HOSPITAL -Good-quality cleavage-stage embryos exhibit high rates of aneuploidy.
    [Show full text]