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https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#1
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28527266/-risk-factors-associated-with-the-development-of-perinatal-asphyxia-in-neonates-at-the-hospital-universitario-del-valle-cali-colombia-2010-2011
#2
Javier Torres-Muñoz, Christian Rojas, Diana Mendoza-Urbano, Darly Marín-Cuero, Sandra Orobio, Carlos Echandía
INTRODUCTION: Perinatal asphyxia is one of the main causes of perinatal mortality and morbidity worldwide and it generates high costs for health systems; however, it has modifiable risk factors. OBJECTIVE: To identify the risk factors associated with the development of perinatal asphyxia in newborns at Hospital Universitario del Valle, Cali, Colombia. MATERIALS AND METHODS: Incident cases and concurrent controls were examined. Cases were defined as newborns with moderate to severe perinatal asphyxia who were older than or equal to 36 weeks of gestational age, needed advanced resuscitation and presented one of the following: early neurological disorders, multi-organ commitment or a sentinel event...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525510/zika-virus-obstetric-and-pediatric-anesthesia-considerations
#3
Jacqueline L Tutiven, Benjamin T Pruden, James S Banks, Mario Stevenson, David J Birnbach
As of November 2016, the Florida Department of Health (FDH) and the Centers for Disease Control and Prevention have confirmed more than 4000 travel-related Zika virus (ZIKV) infections in the United States with >700 of those in Florida. There have been 139 cases of locally acquired infection, all occurring in Miami, Florida. Within the US territories (eg, Puerto Rico, US Virgin Islands), >30,000 cases of ZIKV infection have been reported. The projected number of individuals at risk for ZIKV infection in the Caribbean and Latin America approximates 5 million...
June 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#4
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523345/endovenous-laser-ablation-therapy-in-children-applications-and-outcomes
#5
Premal A Patel, Alex M Barnacle, Sam Stuart, Joao G Amaral, Philip R John
BACKGROUND: Endovenous laser ablation is well recognized as the first-line treatment for superficial venous reflux with varicose veins in adults. It is not widely reported and is not an established practice in pediatric patients. OBJECTIVE: To illustrate a variety of pediatric venous conditions in which endovenous laser ablation can be utilized and to demonstrate its feasibility and safety in children. MATERIALS AND METHODS: We conducted a retrospective review of endovenous laser ablation procedures performed between January 2007 and July 2014 at two large pediatric institutions...
May 18, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#6
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523267/a-novel-role-for-the-bmp-antagonist-noggin-in-sensitizing-cells-to-non-canonical-wnt-5a-ror2-disheveled-pathway-activation
#7
Ondrej Bernatik, Tomasz Radaszkiewicz, Martin Behal, Zankruti Dave, Florian Witte, Annika Mahl, Nicole H Cernohorsky, Pavel Krejci, Sigmar Stricker, Vitezslav Bryja
Mammalian limb development is driven by the integrative input from several signaling pathways; a failure to receive or a misinterpretation of these signals results in skeletal defects. The brachydactylies, a group of overlapping inherited human hand malformation syndromes, are mainly caused by mutations in BMP signaling pathway components. Two closely related forms, Brachydactyly type B2 (BDB2) and BDB1 are caused by mutations in the BMP antagonist Noggin (NOG) and the atypical receptor tyrosine kinase ROR2 that acts as a receptor in the non-canonical Wnt pathway...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#8
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28520325/-newborn-infants-first-outpatient-visit
#9
V Rigo, C Pieltain, C Schoffeniels, M Kalenga, J L Belche
The focus on outpatient follow-up of newborn infants increases as the duration of hospital stay after birth decreases. The first outpatient visit addresses the adequacy of the home transition. Appropriate feedings are checked. Sudden infant death syndrome prevention and security advices are reminded. Realisation of both neonatal dried blood screen and hearing test is confirmed, as well as planning of specific follow-up appointments. The physical exam will focus on red flags for diseases or malformations with a delayed presentation...
May 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28512102/uncommon-presentation-of-adult-form-scimitar-syndrome-associated-with-single-left-pulmonary-vein-in-a-pregnant-woman
#10
Sarah Ali Althomali, Ashraf Ahmad Alhefny, Mohammad Salih Almalki
Scimitar syndrome is the constellation of malformations including an abnormal venous drainage of the right lung into the inferior vena cava, associated with the right lung and systemic supply to the right lung. The anomalous vein looks like the curved, Turkish sword (scimitar), hence the name.The adult form of scimitar syndrome is rare, and it is usually an incidental diagnosis based on the characteristic finding on radiological imaging since the patients are usually asymptomatic or with minimal symptoms.Our patient presented with a rare presentation of scimitar syndrome, which is tachyarrhythmia (sinus tachycardia, with episodes of supraventricular tachycardia)...
May 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28509696/on-top-index-pollicization-after-a-partial-amputation-of-a-syndactylized-hypoplastic-thumb-in-a-patient-with-townes-brocks-syndrome
#11
Mia Lorencin, Kresimir Bulic
Townes-Brocks syndrome is a rare autosomal dominant syndrome characterized by multiple malformations, including thumb anomalies. Thumb hypoplasia poses a specific problem, where a deficient thumb creates a significant handicap in hand function. The treatment goal is enabling pinch and grip activity, and the preferred procedure for a severely hypoplastic thumb is index finger pollicization. We present a case of on-top index pollicization in a 10-year-old, after a partial amputation of a previously syndactylized hypoplastic thumb, with a well-formed first carpometacarpal joint...
May 15, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28509418/review-article-sirenomelia-a-multi-systemic-polytopic-field-defect-with-ongoing-controversies
#12
REVIEW
Lucas L Boer, Eva Morava, Willemijn M Klein, Annelieke N Schepens-Franke, Roelof Jan Oostra
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis...
May 16, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#13
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#14
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#15
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#16
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#17
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#18
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497274/endocytic-receptor-lrp2-megalin-of-holoprosencephaly-and-renal-fanconi-syndrome
#19
REVIEW
Thomas E Willnow, Annabel Christ
Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital or acquired diseases results in multiple organ dysfunctions, including forebrain malformation (holoprosencephaly) and renal reabsorption defects (renal Fanconi syndrome). Here, we describe current concepts of the mode of receptor action that include co-receptors and a repertoire of different ligands, and we discuss how these interactions govern functional integrity of the kidney and the brain, and cause disease when defective...
May 11, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28496331/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-turner-syndrome-monocentric-study
#20
Simona Bucerzan, Diana Miclea, Radu Popp, Camelia Alkhzouz, Cecilia Lazea, Ioan Victor Pop, Paula Grigorescu-Sido
INTRODUCTION: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. AIM: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth...
2017: Therapeutics and Clinical Risk Management
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