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Vitek Wendy W Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Rochester Medical Center, Rochester, New - - 2014
Adolescence is a time of rapidly changing reproductive hormones and menstrual patterns making diagnosis of polycystic ovary syndrome (PCOS) challenging in this population. Nonetheless, there is significant concern that the metabolic and reproductive abnormalities that emerge at adolescence associated with a diagnosis of PCOS have lifelong implications for the individual. ...
Levine Harold H Department of Radiology, Baylor University Medical Center at - - 2014
HELLP (hemolysis, elevated liver enzymes, low platelet) syndrome is a dreaded complication that may develop during pregnancy or in the immediate postpartum period. Rarely this syndrome manifests itself with imaging findings. We report a case of HELLP syndrome in which the diagnosis was reaffirmed via imaging findings.
Sisodia Rinky R Department of Pedodontics and Preventive Dentistry, Rishi Raj College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India, - - 2014
Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, ...
Lederer Damien D Center for Human Genetics, IPG, Charleroi, (Gosselies), - - 2014
Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In ...
Wennberg Patrik P Department of Public Health and Clinical Medicine, Family Medicine, Umeå University, , Umeå, - - 2014
Accumulating evidence suggests that television (TV) viewing is associated with cardio-metabolic risk, but little is known about how this relationship unfolds over the life course. This study employs a life course epidemiological framework by examining the potential cumulative effect of frequent TV viewing during adolescence and young adulthood on the ...
Laverdure Noémie N Service de gastroentérologie, hépatologie et nutrition pédiatrique, hôpital Femme-Mère-Enfant, hospices civils de Lyon, université Lyon 1, CHU de Lyon, 59, boulevard Pinel, 69500 Bron, France. Electronic address: - - 2014
Alpha 1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease linked to a mutation of the SERPINA1 gene localized to chromosome 14q32. Uniparental disomy (UPD) is known to be a genetic mechanism that causes various syndromes. Maternal UPD14 presents with a Prader-Willi syndrome-like phenotype. No publications to date have dealt ...
Inbar-Feigenberg Michal M Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, Ontario, - - 2014
We report the prenatal findings in two cases with Beals syndrome (BS). Both presented with clinical features of AMC/FAS including clenched fists and multiple joint contractures on repeated prenatal ultrasounds. The first was diagnosed as having BS on physical examination shortly after birth and the diagnosis was confirmed on DNA ...
Agudelo Gloria M GM 1 Clinical Nutrition, Vidarium Research Group, Nutrition, Health and Wellness Research Center, Nutresa Business Group (Grupo Empresarial Nutresa) , Medellín, Colombia - - 2014
Abstract Background: Despite the increasing prevalence of metabolic syndrome in adolescents, there is no consensus for its diagnosis. Methods: A cross-sectional study was conducted to compare the prevalence of metabolic syndrome in adolescents by different definitions, evaluate their concordance, and suggest which definition to apply in this population. A total ...
Mills A T AT Department of Anaesthetics, Plymouth Hospitals NHS Trust, Derriford, Plymouth, Devon, UK. Electronic address: - - 2014
Paracetamol is the most frequently used analgesic during pregnancy and the most common drug involved in suicidal overdose in the UK. Manifestation of toxicity classically occurs over four phases with clinical and laboratory features resembling HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome. We report a case that was erroneously ...
Kellogg Gregory G Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, H315, Stanford, CA, 94305-5208, - - 2014
Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will ...
Pitts Samantha I - - 2014
We report a case of congenital rubella syndrome in a child born to a vaccinated New Jersey woman who had not traveled internationally. Although rubella and congenital rubella syndrome have been eliminated from the United States, clinicians should remain vigilant and immediately notify public health authorities when either is suspected.
Schiess Regula R Anthropological Institute and Museum, University of Zuerich, Winterthurerstrasse 190, 8057 Zuerich, - - 2014
Owing to its completeness, the 1.5 million year old Nariokotome boy skeleton KNM-WT 15000 is central for understanding the skeletal biology of Homo erectus. Nevertheless, since the reported asymmetries and distortions of Nariokotome boy's axial skeleton suggest adolescent idiopathic scoliosis, possibly associated with congenital skeletal dysplasia, it is questionable whether ...
Takahashi Hironori H Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, - - 2014
Various fetal or placental disorders cause Ballantyne's (mirror) syndrome. For the first time, we report a maternal manifestation of Ballantyne's syndrome occurring concomitantly with the development of fetal congenital mesoblastic nephroma (CMN). In a pregnant woman with a CMN fetus, lung edema, hypertension, hyperthyroidism, and high serum human chorionic gonadotrophin ...
Palomba Stefano S Department of Obstetrics and Gynecology, Arcispedale S. Maria Nuova of Reggio Emilia, IRCCS , Reggio Emilia , Italy - - 2014
Abstract The management of oligo-amenorrhea in adolescent patients with polycystic ovary syndrome (PCOS) represents an important and difficult challenge. Metformin and/or oral contraceptives (OCs) are different strategies widely proposed in these patients. The objective of the current review was to provide an overview on the use of metformin and/or OCs ...
Piotrowski Krzysztof K Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland. - - 2014
Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly ...
Gueniche Karinne - - 2014
The authors' clinical experience with young girls with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), who are facing the often hastily suggested, and accepted, surgical treatment of vaginal reconstruction brings new light to the question of female sexuality and its specific modes of access: its traumatic aspects, the mother-daughter conflict of ambivalence and the ...
Mockova A A 1Department of Neonatology, Faculty of Medicine in Pilsen and University Hospital, Charles University in Prague, Czech - - 2013
The case presented describes a high-risk pregnancy of a woman with systemic lupus erythematosus (SLE) with multiple lesions of central nervous system (CNS), vasculitis, secondary epilepsy and antiphospholipid syndrome (APS). At gestational age 28 weeks and 3 days the pregnancy was urgently terminated via caesarean section and an extremely hypotrophic ...
Terry Jefferson - - 2013
Abstract Cardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects ...
Cakmak Bulent B Department of Obstetrics and Gynecology, School of Medicine , Gaziosmanpasa University - - 2013
The purpose of this report is to present a case of mild Pre-eclampsia which was complicated with postpartum HELLP syndrome. A 25-years-old pregnant woman with mild Pre-eclampsia at 36 weeks of gestation was admitted to our clinic with uterine contractions. A caesarean section was performed, due to her previous caesarean ...
Günbatar Hülya - - 2013
Yellow nail syndrome (YNS) is an uncommon clinical syndrome characterized by yellow-green discoloration of nails and recurrent respiratory tract lesions, pleural effusions, and lymphedema. A thirty-eight years old woman was referred to the emergency complaining of chronic cough and increasing dyspnea within last two week. She had give a birth ...
Churilov L P - - 2013
The history of autoimmune thyroiditis (AIT) and its role in pathophysiology of transition from adolescent hypothalamic syndrome (obesity with rose striae) into early metabolic syndrome is reviewed. Marfanoid phenotype and chronic disequilibrium between local, autacoid-mediated and systemic, hormone-mediated regulation, typical for inherited connective tissue disorders, may promote this transition. Pathogenetic ...
Alqahtani Aayed R AR Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address: - - 2014
Currently, no topic is more controversial in bariatric surgery than performing these procedures on children with monogenic and syndromic forms of obesity. The medical community and the caregivers of those patients are struggling to find a solution that can alleviate their suffering and save their life. In all forms of ...
Chung Brian H Y - - 2013
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital ...
Fang J - - 2013
In countries such as the United States where rubella virus infections are rare, congenital rubella syndrome (CRS) may not be recognized in a timely manner. However, the syndrome still appears in this country, often in infants of mothers emigrating from countries with absent or suboptimal national vaccination programs. We describe ...
Wong Sze Choong - - 2013
To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with ...
Castro Simon - - 2013
Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of ...
Miller Laura L - - 2013
Only a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample. Data are from 7152 ...
De Montpellier Sybille - - 2013
Co-occurrence of congenital central hypoventilation syndrome and Hirschsprung disease is known as Haddad syndrome. Affected patients develop with variable expressivity a dysfunction of the autonomic nervous system. We report the natural history of a full-term newborn infant presenting multiple features of autonomic system dysfunction that were already noted antenatally. The ...
Schoberer M - - 2013
Acute maternal Parvovirus B19 infection affects about 1% of all pregnancies worldwide. Diaplacental transmission of Parvovirus B19 during the second trimester can cause complications like foetal hydrops, premature delivery or foetal loss in about 20-30% of these pregnancies, whereas the majority of maternal infections remain clinically silent. In individual cases, ...
Kumar Suresh - - 2013
Abstract We present a 2-month-old male affected by Zellweger syndrome, a rare peroxisomal disorder. The diagnosis was supported by clinical and radiological findings and established by biochemical tests. The characteristic radiological features included anomalous ossification (epiphyseal stippling). We also discuss main differential diagnoses of epiphyseal stippling and a brief literature ...
Coffin Cheryl M - - 2013
Soft tissue neoplasms may be associated with a variety of genetic disorders and malformation syndromes, especially when they arise in children, adolescents and early adulthood. This review summarizes the principal histopathological types of soft tissue tumours which occur in various syndromes, with an emphasis on pathological features, genetic aspects and ...
Perche Olivier - - 2013
7qter deletion syndrome includes prenatal and/or postnatal growth retardation, microcephaly, psychomotor delay or mental retardation and a characteristic dysmorphism. If clinical features are well described, the molecular mechanisms underlying the 7qter deletion syndrome remain unknown. Those deletions usually arise de novo. Here, we describe a young boy with an abnormal ...
Perche Olivier - - 2013
"FOXG1 syndrome" includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements deletion, associated with down ...
Cocchi Guido - - 2013
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been ...
van Gameren-Oosterom Helma B M - - 2013
To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental questionnaire. Problem behavior was measured using the Child Behavior Checklist ...
Quarello E - - 2013
We aim to describe the abnormal features of the fouth ventricle (FV) in the setting of fetuses complicated by Joubert syndrome and related disorders (JSRD). Seven fetuses presented abnormalities of the brain isolated or associated with other findings were reviewed. The molar tooth sign (MTS) was always present and visible ...
Ghosh Sujoy S Human Genetics Research Unit, Department of Zoology, Sundarban Hazi Desarat College (Affiliated to University of Calcutta), South 24 Parganas, Pathankhali, West Bengal, 743611, India, - - 2014
We conducted a survey to analyze the genetic epidemiology of trisomy 21 Down syndrome births in the Sundarban delta region of India. In this region, inhabitants are chiefly from marginalized poor tribal communities and have lived in extremely low socioeconomic condition for several generations. Microsatellite genotyping revealed an meiosis I/meiosis ...
Low Karen - - 2013
A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. © 2013 Wiley Periodicals, Inc.
Varma Sapna N K - - 2013
Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests ...
Oakes Ashley - - 2013
The current study sought to characterize the language phenotype of fragile X syndrome (FXS), focusing on the extent of impairment in receptive syntax, within-syndrome variability in those impairments in relation to gender, and the syndrome specificity of those impairments. The Test for the Reception of Grammar-2 (Bishop, 2003) was used ...
Szabo Szilvia S Department of Morphology and Physiology, Faculty of Health Sciences, Semmelweis University, Budapest, - - 2013
Preeclampsia is characterized by maternal systemic anti-angiogenic and pro-inflammatory states. Syndecan-1 is a cell surface proteoglycan expressed by the syncytiotrophoblast, which plays an important role in angiogenesis and resolution of inflammation. Our aim was to examine placental syndecan-1 expression in preeclampsia with or without hemolysis, elevated liver enzymes, and low ...
Micheletto Marcos Ricardo Datti - - 2013
Down syndrome occurs in approximately 1:600 live births. Genetic counseling is indicated for these families and may be beneficial for adaptation to the challenges that accompany by this diagnosis. Although the basic counseling goals are similar, there are many models of genetic counseling practiced around the world. The aim of ...
Lituania Mario - - 2013
PURPOSE: The prenatal ultrasound visualization of the soft palate and especially the uvula may be technically difficult due to its anatomy and presence of surrounding structures. A cleft involving the soft palate and the uvula is one of the clinical features of Stickler syndrome, a rare connective tissue disorder. MATERIALS ...
Gajda Anna - - 2013
Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We ...
Kim Tae-Hee - - 2013
Postpartum hemorrhage presents a difficult situation for obstetricians, and several methods have been developed to reduce mortality and morbidity. We recently read the review of uterine compression sutures for postpartum hemorrhage in this journal, which suggested that compression sutures offer improved hemostasis and preserve future fertility (1). Placenta previa can ...
Ome Maria - - 2013
BACKGROUND: Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan ...
Aloizos S - - 2013
HELLP, a syndrome characterised by haemolysis, elevated liver enzymes and low platelets, a variant of pre-eclampsia/eclampsia, is a multisystemic disorder with an incidence of up to 0.9% in all pregnancies and occurs in about one-quarter of pre-eclamptic patients. Most obstetricians presume that HELLP derives from an autoimmune reaction, leading to ...
Ko Jung Min - - 2013
Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of ...
Arora Kamaldeep - - 2013
Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb ...
Guedj Faycal - - 2013
Trisomy 21 (T21) is the most common autosomal aneuploidy that is associated with intellectual disability. It is the focus of many prenatal screening programs across the globe. Pregnant women who receive a prenatal diagnosis of T21 in their fetus currently have the option of continuing or terminating their pregnancy, but ...
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