Vol4 No.2.Pdf
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
A Case Report Cem Yener Trakya University, Turkey
American Journal of Preventive Medicine and Public Health Open Access Iniencephaly: A Case Report Cem Yener Trakya University, Turkey ABSTRACT of head, spinal dysmorphism, and lordosis of cervicothoracic vertebrae. Iniencephaly is in the same family of neural tube defects as spina Iniencephaly is a rare neural tube defect characterized by the presence of occipital bone defects at foramen magnum, fixed retroflexion bifida, but it is more severe. The frequency varies between 0.1-10 / 10,000. Most of the fetuses are female. Etiopathogenesis is not known. According to some sources, it has been associated with trisomy 13, 18 and monosomy X. AFP(alfa-feto protein) as a biochemical marker is generally increased. Here we present a 30 years old 19 weeks pregnant women that was referred to our Perinatology Department. We detected polihydramnios, extreme retroflexion of the head, absent neck, low set ears and major cardiac anomaly on ultrasonography. We informed family and with family consent we terminated pregnancy (Image 1). In conclusion, iniencephaly is a neural tube defect with unknown etiopathogenesis. There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic disordersacid. Pregnant so prenatal women care should is important avoid taking for these antiepileptic patients. drugs, diuretics, antihistamines, and sulfa drugs, which have been shown to be associated with an increased risk of neural tube defects. -
(12) Patent Application Publication (10) Pub. No.: US 2007/0254315 A1 Cox Et Al
US 20070254315A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2007/0254315 A1 Cox et al. (43) Pub. Date: Nov. 1, 2007 (54) SCREENING FOR NEUROTOXIC AMINO (60) Provisional application No. 60/494.686, filed on Aug. ACID ASSOCATED WITH NEUROLOGICAL 12, 2003. DSORDERS Publication Classification (75) Inventors: Paul A. Cox, Provo, UT (US); Sandra A. Banack, Fullerton, CA (US); Susan (51) Int. Cl. J. Murch, Cambridge (CA) GOIN 33/566 (2006.01) GOIN 33/567 (2006.01) Correspondence Address: (52) U.S. Cl. ............................................................ 435/721 PILLSBURY WINTHROP SHAW PITTMAN LLP (57) ABSTRACT ATTENTION: DOCKETING DEPARTMENT Methods for screening for neurological disorders are dis P.O BOX 105OO closed. Specifically, methods are disclosed for screening for McLean, VA 22102 (US) neurological disorders in a Subject by analyzing a tissue sample obtained from the subject for the presence of (73) Assignee: THE INSTITUTE FOR ETHNO elevated levels of neurotoxic amino acids or neurotoxic MEDICINE, Provo, UT derivatives thereof associated with neurological disorders. In particular, methods are disclosed for diagnosing a neu (21) Appl. No.: 11/760,668 rological disorder in a subject, or predicting the likelihood of developing a neurological disorder in a Subject, by deter (22) Filed: Jun. 8, 2007 mining the levels of B-N-methylamino-L-alanine (BMAA) Related U.S. Application Data in a tissue sample obtained from the subject. Methods for screening for environmental factors associated with neuro (63) Continuation of application No. 10/731,411, filed on logical disorders are disclosed. Methods for inhibiting, treat Dec. 8, 2003, now Pat. No. 7,256,002. -
Iniencephaly: Radiological and Pathological Features of a Series of Three Cases Panduranga Chikkannaiah, V
Published online: 2019-09-25 Case Report Iniencephaly: Radiological and pathological features of a series of three cases Panduranga Chikkannaiah, V. Srinivasamurthy, B. S. Satish Prasad1, Pradeepkumar Lalyanayak, Divya N. Shivaram Department of Pathology, 1Radiology, ESIC Medical College and PGIMSR, Rajajinagar, Bangalore, Karnataka, India ABSTRACT Iniencephaly is a rare form of neural tube defect with an incidence of 0.1‑10 in 10,000 pregnancies. It is characterized by the presence of occipital bone defects at foramen magnum, fixed retroflexion of head, spinal dysmorphism, and lordosis of cervicothoracic vertebrae. It is usually associated with central nervous system, gastrointestinal, and cardiovascular anomalies. We present radiological and autopsy findings in a series of 3 cases of iniencephaly (gestational ages 29.3, 23, and 24 weeks) first fetus in addition showed omphalocele, pulmonary hypoplasia, two lobes in right lung, accessory spleen, atrial septal defect, bilateral clubfoot, ambiguous genitalia, and single umbilical artery. Second fetus was a classical case of iniencephaly apertus with spina bifida. Third fetus had colpocephaly and bifid spine. Key words: Colpocephaly, iniencephaly, omphalocele, pulmonary hypoplasia, spina bifida Introduction as her routine anomalous ultrasonogram (USG) done at a primary center revealed defective development of spine, Iniencephaly is a rare, fatal neural tube defect (NTD) atrial septal defect (ASD), aplasia of the right kidney, characterized by occipital bone defects at foramen magnum, and encephalocele. The mother’s routine blood and fixed retroflexion of head, spinal dysmorphism, and biochemical investigations were within normal limits. lordosis of cervicothoracic vertebrae.[1] Howkin and Lawrie She was not a known diabetic or hypertensive and had in 1939 classified iniencephaly into two types based on the a history of nonconsanguineous marriage. -
A Medley of Fetal Brain Anomalies No Disclosures
3/28/2021 No disclosures A Medley of Fetal Brain Anomalies Ana Monteagudo, MD Anencephaly-Exencephaly Anencephaly-Exencephaly Sequence Sequence 10 3/7 weeks Abnormally shaped head Echogenic amniotic fluid Absent calvarium Best seen with increased gain CRL may be lagging dates Iniencephaly Anencephaly-Exencephaly Sequence 11 2/7 weeks Iniencephaly is an NTD. 19 weeks Retroflexion of the head Spinal abnormalities Retroflexion with ONTD Spine Head 1 3/28/2021 Posterior Encephalocele Posterior Encephalocele 14 4/7 weeks Cranial defect Brain protruding through defect Parietal Encephalocele- Atretic ? Occipital Encephalocele Cranial Defect Cephalocele Sagittal suture Parietal bone Lambdoid Feeding Vessel suture Occipital bone Anterior cephalocele 13 weeks H.O. Encephalocele 2 3/28/2021 Anterior Cephalocele 13 weeks 32 wks Anterior Encephalocele Anterior Encephalocele 25 wks Posterior Encephalocele MECKEL SYNDROME, TYPE 1; MKS1 Posterior Encephalocele 34 3/7 weeks Transabdominal Transvaginal 3 3/28/2021 Absence of Gyri & Sulci (Lissencephaly) and Ventriculomegaly, Dilated 3rd & DWM Ventriculomegaly Dilated 3rd ventricle Absent vermis Ventriculomegaly Dysgenetic Corpus Callosun Pericallosal Artery 3/7 Ventriculomegaly 34 weeks Smooth brain surface 3/7 Absence of Gyri & Sulci 34 weeks Lissencephaly Cataract and Micrognathia Agenesis of the Corpus Callosum- Indirect Signs Walker-Warburg Syndrome Cataract Micrognathia Non-visualization CSP Prominent Wide Inter- Tear-shaped HARD syndrome: hydrocephalus, agyria, and retinal dysplasia 3rd ventricle hemispheric fissure ventricles Agenesis of the Corpus callosum Non-Visualization of CSP Parallel slit-like, crescent shape • No fluid filled CSP lateral ventricle • Normal corpus callosum & pericallosal a. Upwardly displaced Absent corpus Absent pericallosal 3rd ventricle Falx callosum artery 4 3/28/2021 Dysgenesis Corpus callosum • Biometry too small, thick • Obliteration of the CSP … this finding should elicit detailed imaging and evaluation of the CC, other cerebral structures and the remaining fetal anatomy. -
Ultrasound Anomaly Details
Appendix 2. Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies Ultrasound Anomaly Details Abdominal wall Bladder exstrophy Body-stalk anomaly Cloacal exstrophy Gastroschisis Omphalocele Other: free text box CNS Absent cerebellar vermis Agenesis of corpus collosum Anencephaly Arachnoid cyst Cerebellar hypoplasia Chiari malformation Dandy-Walker malformation Encephalocele Anterior Posterior Holoprosencephaly Hydranencephaly Iniencephaly Lissencephaly Parenchymal defect Posterior fossa cyst Spina bifida Vascular anomaly Ventriculomegaly/Hydrocephaly Unilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Bilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Other: free text box Ear Outer ear malformation Unilateral Bilateral Other: free text box Effusion Hydrops Single effusion only Ascites Pericardial effusion Pleural effusion Skin edema Donnelly JC, Platt LD, Rebarber A, Zachary J, Grobman WA, and Wapner RJ. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014;124. The authors provided this information as a supplement to their article. © Copyright 2014 American College of Obstetricians and Gynecologists. Page 1 of 6 Other: free text box Fac Eye anomalies Cyclopia Hypertelorism Hypotelorism Microphthalmia Other: free text box Facial tumor Lip - Cleft Unilateral Midline Bilateral Nose Absent / hypoplastic nose bone Depressed nasal bridge Palate – Cleft Profile -
INIENCEPHALY: a RARE NEURAL TUBE Defectu
INIENCEPHALY: A RARE NEURAL TUBE DEFECT◆ (İniensefali: Nadir Bir Nöral Tüp Defekti) Banu Dane*, Cem Dane*, Murat Kıray*, Salih Dural*, Ahmet Çetin*, Murat Yayla* Summary Background: Iniencephaly is a rare craniocervical deformity characterized by marked, fixed retroflexion of the head and a short, immobile neck. We report a case of iniencephaly diagnosed prenatally by ultrasound examination. Case presentation: A 20-year-old gravida 1 woman was first seen in our antenatal clinic at 24 weeks' pregnancy. On ultrasound examination a fixed retroflexion of the head, severe microcephaly, anencephaly, meningocele, deformed spine with cervical dysraphism, and omphalocele were found. She delivered a 440 g, 24 weeks- old female fetus. Postmortem examination confirmed the diagnosis of iniencephaly. Discussion: The ultrasonic diagnosis of iniencephaly should be based on the finding of extreme retroflexion of the head accompanied by an abnormally short and deformed spine. Early diagnosis and termination of pregnancy reduces the maternal risks. The mother should be recommended folic acid supplementation for future pregnancies. Key words: Iniencephaly, neural tube defect, prenatal ultrasonography. Özet Giriş: İniensefali, başın fikse ve belirgin retrofleksiyonu, ayrıca kısa ve hareketsiz ense ile karakterize nadir bir kranioservikal deformitedir. Biz bu vaka sunumunda prenatal dönemde ultrasonografi ile tanı koyduğumuz iniensefali vakasını bildirdik. Vaka Sunumu: İlk gebeliğin 24. haftasında gebe polikliniğine başvuran hastanın yapılan ultrasonografi muayenesinde fetal başın fikse enseye yapışık olması, şiddetli mikrosefali, anensefali, meningosel, servikal açıklıkla beraber deforme olmuş omurga ve omfalosel saptandı. Bu bulgularla 440 g ağırlığında kız bebek doğurtuldu. Doğum sonrası yapılan otopside iniensefali tanısı doğrulandı. Tartışma: İniensefalinin ultrasonografik olarak tanısında temel olarak oldukça kısa ve deforme olmuş omurga ile birlikte başın ileri derecede retrofleksiyonu mutlaka bulunmalıdır. -
Holoprosencephaly and Strabismus
Holoprosencephaly and Strabismus Pavlina Kemp, MD, Grant Casey, Susannah Longmuir, MD June 11, 2012 Chief complaint Eye crossing History of Present Illness The patient is a 15 month-old female at presentation to the eye clinic, with history of severe hydrocephalus at birth. She was also diagnosed with alobar holoprosencephaly at birth with seizures. She was originally referred for eye crossing. We present her remarkable clinical course. Past Medical History: • Hydrocephalus s/p ventriculoperitoneal shunting • Holoprosencephaly (alobar type) • Seizure disorder Past Surgical History: • Ventriculoperitoneal shunt placement, 2004 • Ventriculoperitoneal shunt revision, 1/2005 • Ventriculoperitoneal shunt revision, 6/2005 Family History: No known family history of holoprosencephaly, amblyopia or strabismus. Social History: Patient lives at home with parents and two sisters. Medications: None Exam and Clinical Course: Age: 15 months Visual Acuity: Central, unsteady and maintained OD and central, unsteady and maintained OS Teller acuity testing: • Without correction OU: 20/800 Pupils: Equally round and briskly reactive, no relative afferent pupillary defect. Stereo Vision: Unable to test Motility and Strabismus: • Large variable esotropia • Bilateral elevation and abduction deficits • Intermittent horizontal nystagmus Cycloplegic Refraction: • OD: +4.00 • OS: +6.00 External Exam: Notable for large head circumference Slit Lamp Exam: Normal anterior segment exam OU without evidence of cataracts or other media opacities. Normal appearing optic nerves and normal dilated fundus examination. No sign of optic nerve hypoplasia in either eye. Figure 1: Axial and saggital MRI illustrating the enlargement of ventricles secondary to hydrocephalus. At this point, after discussion with her family, surgery for strabismus was deferred and correction of her hyperopia was attempted. -
PDF Download
Review Xatzipsalti Maria et al. Congenital Hypopituitarism: Various Genes, … Horm Metab Res 2018; 00: 00–00 Congenital Hypopituitarism: Various Genes, Various Phenotypes Authors Maria Xatzipsalti1, 2, Antonis Voutetakis1, Lela Stamoyannou2, George P. Chrousos1, Christina Kanaka-Gantenbein1 Affiliations ABSTRacT 1 Division of Endocrinology, Diabetes and Metabolism, The ontogenesis and development of the pituitary gland is a First Department of Pediatrics, Medical School, National highly complex process that depends on a cascade of transcrip- and Kapodistrian University of Athens, “Aghia Sofia” tion factors and signaling molecules. Spontaneous mutations Children's Hospital, Athens, Greece and transgenic murine models have demonstrated a role for 2 First Department of Pediatrics, “Aglaia Kyriakou” many of these factors, including HESX1, PROP1, PIT1, LHX3, Children's Hospital, Athens, Greece LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, SHH, GLI2, and FGF8 in the etiology of congenital hypopituitarism. Genetic muta- Key words tions in any of these factors can lead to congenital hypopitui- pituitary, combined pituitary hormone deficiency, congenital tarism, which is characterized by the deficiency in one or more hypopituitarism, transcription factors, syndromic hypopitui- pituitary hormones. The phenotype can be highly variable, tarism, non-syndromic hypopituitarism consisting of isolated hypopituitarism or more complex disor- ders. The same phenotype can be attributed to different gene received 27.03.2018 mutations; while a given gene mutation can -
Iniencephaly and Holoprosencephaly: Report of a Rare Association
Hindawi Publishing Corporation Case Reports in Obstetrics and Gynecology Volume 2014, Article ID 849589, 4 pages http://dx.doi.org/10.1155/2014/849589 Case Report Iniencephaly and Holoprosencephaly: Report of a Rare Association Aytekin Tokmak, Hakan Timur, Korkut DaLlar, and Özgür Kara Department of Obstetrics and Gynecology, Dr. Zekai Tahir Burak Women’s Health Education and Research Hospital, 06240 Ankara, Turkey Correspondence should be addressed to Aytekin Tokmak; [email protected] Received 9 May 2014; Revised 22 June 2014; Accepted 23 June 2014; Published 2 July 2014 Academic Editor: Eliezer Shalev Copyright © 2014 Aytekin Tokmak et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks. An 18-year-old nullipara was admitted to our perinatology service with a diagnosis of neural tube defect. Based on the ultrasonographic findings of alobar holoprosencephaly and iniencephaly during a prenatal screening, termination was recommended at the 13th week of pregnancy. However, she rejected the termination and received no prenatal care until the onset of parturition. At the time of admission, she was in her 28th week of pregnancy. Her medical and family histories were unremarkable. She delivered a stillbirth female weighing 1100 gr complicated with iniencephaly. The infant’s postmortem examination showed iniencephaly associated with holoprosencephaly and cyclops. The family declined an autopsy and genetic counseling. -
Engineering Region-Specific Brain Organoids from Human Stem Cells to Study Neural Development and Disease
CHAPTER TWELVE Building the brain from scratch: Engineering region-specific brain organoids from human stem cells to study neural development and disease Fadi Jacoba,b,c, Jordan G. Schnolla, Hongjun Songa,d,e,f, and Guo-li Minga,d,e,g,* aDepartment of Neuroscience and Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States bThe Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, United States cMedical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, United States dDepartment of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States eInstitute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States fThe Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States gDepartment of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States *Corresponding author: e-mail address: [email protected] Contents 1. Introduction 478 1.1 Fundamentals of mammalian brain development 479 1.2 Human-specific features 482 1.3 Comparison of in vitro human cell models 482 2. Generation of region-specific brain organoids from human stem cells 484 2.1 Unguided differentiation: Cerebral organoids 484 2.2 Guided differentiation: Region-specific brain organoids 489 3. Advancements in cellular complexity of brain organoids 496 3.1 Fusion of region-specific brain organoids 497 3.2 Enhancing glial cell production and maturation 499 3.3 Reconstitution of resident immune cells and vasculature 500 3.4 Technical modifications for long-term culture 501 3.5 In vivo orthotopic xenotransplantation 503 4. -
Neurocranial Defects with Neuro-Ophthalmic Significance
11 Neurocranial Defects with Neuro-Ophthalmic Significance Ronald M. Minzter and Edward G. Buckley atients with cranial/skeletal defects often exhibit neuro- Pophthalmic abnormalities, which may be caused by specific anomalies within the spectrum of a given condition, or by an associated malformation of the nervous system, or be secondary to mechanical forces such as hydrocephalus. This chapter reviews the ophthalmic abnormalities found in progressive hemifacial atrophy, which are primarily due to structural defects, as well as ophthalmic abnormalities in Arnold–Chiari malformations, meningomyelocele, platybasia, and the Klippel–Feil syndrome, which are related to both structural and secondary neurological mechanisms. PROGRESSIVE HEMIFACIAL ATROPHY (PARRY–ROMBERG DISEASE) Progressive hemifacial atrophy (PHA), described by Parry in 1825, and by Romberg in 1846 as “trophoneurosis facialis,” is a progressive variable hemiatrophy of facial fat and subcutaneous tissues.102,111 Eulenburg34 later named this condition “progressive facial hemiatrophy.” The atrophy begins in childhood, pro- gresses intermittently and rapidly over the next 2 to 10 years, and usually decelerates by young adulthood.48,49,99 If onset is early enough, bone and cartilage may be affected because the facial structures have not yet fully matured104 (Fig. 11-1, top). In addition to facial atrophy, there can be dental/oral changes, migraine headaches, and neurological disturbances such as 371 372 handbook of pediatric neuro-ophthalmology A B CD FIGURE 11-1A–D. Progressive nature of progressive hemifacial atrophy (PHA) in a patient at 8 years old (A) and again at 15 years (B), showing left-sided atrophy. Fundus photos of the normal contralateral side (C) and the ipsilateral affected side with hypopigmentary disturbances (D), par- ticularly along the inferior arcade. -
Prenatal Diagnosis of Congenital Fetal Malformations Medically Terminated: a Retrospective Analysis
DOI - 10.21276/obgyn.2021.8.1.13 ISSN Print – 2454-2334; ISSN Online – 2454-2342 RESEARCH ARTICLE Prenatal diagnosis of congenital fetal malformations medically terminated: a retrospective analysis Papa Dasari, Pratima Aggrawal Corresponding author: Dr. Papa Dasari, Professor, Department of Obstetrics and Gynaecology, JIPMER, Puducherry, India; Email: [email protected] Distributed under Attribution-Non Commercial – Share Alike 4.0 International (CC BY-NC-SA 4.0) ABSTRACT Objectives: The primary objective of this study is to find out demographic and clinical profile of women with congenital malformation who underwent MTP and secondary objective is to find out types of congenital malformations, risk factors and method of termination of pregnancy. Methods: This retrospective cohort involved women with congenital malformations who underwent medical termination (MTP) over a 3 year period (July 2016 to June 2019) in a tertiary care facility. Data was analysed with respect to gestational age and spectrum of malformations and results were expressed as frequencies and proportions. Results: Of the 640 women underwent MTP, 245 were for congenital fetal malformations (38.2%). The mean age was 25 years, 95% belonged to low socioeconomic status and from rural background and were Hindus. The most common system affected was CNS (55.5%) followed by renal. The most common lethal anomalies were anencepahaly and hydrocephalous. Majority were diagnosed between 16 to 20 weeks and only 3 % were diagnosed in first trimester. Risk factors were third and second degree consanguinity (27%), diabetes in pregnancy (28%) and non consumption of folic acid preconceptionally (92%). Conclusion: The most common anomalies are largely preventable as they involved CNS and 40% were anencephaly.