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Congenital hydrocephaly

Camila Gálvez V, Isidro Huete, Marta Hernández
INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause...
February 2018: Revista Chilena de Pediatría
Andrea-Romana Prusa, David C Kasper, Larry Sawers, Evelyn Walter, Michael Hayde, Eileen Stillwaggon
BACKGROUND: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario...
July 2017: PLoS Neglected Tropical Diseases
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. Colombia has been experiencing an epidemic wave of Zika infection, starting approximately in October 2015. Here we document the trends of microcephaly and severe CNS malformations in two major cities in Colombia from 2012 through 2016, tracking the epidemiologic curve from before through the major Zika epidemic so far. METHODS: The study included neural tube defects (anencephaly, spina bifida, encephalocele), holoprosencephaly, and hydrocephaly...
July 1, 2017: Pediatric Infectious Disease Journal
Fabiele Baldino Russo, Patricia Jungmann, Patricia Cristina Baleeiro Beltrão-Braga
Starting with the outbreak in Brazil, Zika virus (ZIKV) infection has been correlated with severe syndromes such as congenital Zika syndrome and Guillain-Barré syndrome. Here, we review the status of Zika virus pathogenesis in the central nervous system (CNS). One of the main concerns about ZIKV exposure during pregnancy is abnormal brain development, which results in microcephaly in newborns. Recent advances in in vitro research show that ZIKV can infect and obliterate cells from the CNS, such as progenitors, neurons, and glial cells...
June 2017: Cellular Microbiology
Chiara Pagliuca, Gabiria Pastore, Elena Scaglione, Annalisa Migliucci, Giuseppe Maria Maruotti, Annunziata Gaetana Cicatiello, Elena Salvatore, Marco Picardi, Josè Camilla Sammartino, Maria Consiglio Buonocore, Pasquale Martinelli, Emilia Iaccarino, Roberta Colicchio, Paola Salvatore
This report describes a case of congenital toxoplasmosis in a newborn in Southern Italy. A pregnant mother had been admitted at the 20th week of her pregnancy on account of pharyngodynia and laterocervical lymphadenopathy. Although serological testing of the mother's serum documented a seroconversion with positive IgG and IgM anti-Toxoplasma antibodies during II trimester, the woman refused to perform prenatal diagnosis for congenital toxoplasmosis. Fetal ultrasound scan already showed mild asymmetrical triventricular hydrocephaly and cerebral calcifications...
April 2017: New Microbiologica
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
2017: Anti-cancer Agents in Medicinal Chemistry
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton
Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor...
December 2016: European Journal of Medical Genetics
Jorge Félix Companioni Rosildo, Manuel Filipe Dias Dos Santos, Rita de Cassia de Santa Barbara
Congenital encephalocele is a neural tube defect characterized by a sac-like protrusion of the brain, meninges, and other intracranial structures through the skull, which is caused by an embryonic development abnormality. The most common location is at the occipital bone, and its incidence varies according to different world regions. We report a case of an 1-month and 7-day-old male child with a huge interparietal-posterior fontanel meningohydroencephalocele, a rare occurrence. Physical examination and volumetric computed tomography were diagnostic...
January 2015: Autopsy & Case Reports
Jorge Román Corona-Rivera, Rafael Nieto-García, Eloy López-Marure, Juan José Cárdenas-Ruiz Velasco, Lucina Bobadilla-Morales, Estrella Lizbeth Mellín-Sánchez, Rafael L Aguirre-Guillén, René O Pérez-Ramírez, Eugenio Zapata-Aldana, Ana K Sandoval-Talamantes, Susana Solís-Ledezma, Alfredo Corona-Rivera, Larissa M Gómez-Ruiz
The aim of our study was to determine the frequency and type of associated congenital anomalies in patients with isolated gastroschisis born at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, México), and to explore its possible association with the included outcome variables. One hundred-eight cases with isolated gastroschisis were reviewed from 2009 to 2014. The occurrence of intestinal and extraintestinal associated anomalies (either secondary or primary) was prospectively assessed...
February 2016: American Journal of Medical Genetics. Part A
Bahador Sarkari, Samaneh Abdolahi Khabisi
We report a fatal congenital toxoplasmosis case in an Iranian woman in the south of Iran. A pregnant mother had been admitted at the 15th week of her pregnancy on account of a febrile illness, symptoms of common cold, and enlargement of submandibular lymph nodes. Serological testing of the mother's serum revealed positive IgG and IgM anti-Toxoplasma antibodies. Amniotic fluid was taken and evaluated by polymerase chain reaction (PCR) assay with a direct amplification of the Toxoplasma URPT gene which was found to be positive...
2015: Case Reports in Infectious Diseases
Jaqueline Dario Capobiango, Regina Mitsuka Breganó, Italmar Teodorico Navarro, Claudio Pereira Rezende Neto, Antônio Marcelo Barbante Casella, Fabiana Maria Ruiz Lopes Mori, Sthefany Pagliari, Inácio Teruo Inoue, Edna Maria Vissoci Reiche
This study describes the characteristics of 31 children with congenital toxoplasmosis children admitted to the University Hospital of Londrina, Southern Brazil, from 2000 to 2010. In total, 23 (85.2%) of the mothers received prenatal care but only four (13.0%) were treated for toxoplasmosis. Birth weight was <2500g in 37.9% of the infants. During the first month of life, physical examination was normal in 34.5%, and for those with clinical signs and symptoms, the main manifestations were hepatomegaly and/or splenomegaly (62...
July 2014: Brazilian Journal of Infectious Diseases
J M Luteijn, M J Brown, H Dolk
STUDY QUESTION: Does first trimester maternal influenza infection increase the risk of non-chromosomal congenital anomalies (CA)? SUMMARY ANSWER: First trimester maternal influenza exposure is associated with raised risk of a number of non-chromosomal CA, including neural tube defects, hydrocephaly, congenital heart defects, cleft lip, digestive system defects and limb reduction defects. WHAT IS KNOWN ALREADY: Hyperthermia is a well-established risk factor for neural tube defects...
April 2014: Human Reproduction
Fatih Serhat Erol, Sait Ozturk, Bekir Akgun, Hakan Cakin, Metin Kaplan
BACKGROUND/AIMS: We aimed to investigate the relationship between corpus callosum dysgenesis (CCD) and associated asymptomatic closed spinal dysraphisms (CSDs). METHODS: 2,840 pediatric patients who were referred to our outpatient clinic between the years 2005 and 2013 with the diagnosis of microcephaly, macrocephaly, congenital hydrocephaly, epilepsy, mental-motor retardation and suspicion of intracranial mass were evaluated. Eighty-five patients were identified with a CCD by cranial magnetic resonance imaging (MRI)...
2013: Pediatric Neurosurgery
Amy M Padula, Ira B Tager, Suzan L Carmichael, S Katharine Hammond, Wei Yang, Frederick W Lurmann, Gary M Shaw
BACKGROUND: Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. METHODS: We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls)...
November 2013: Birth Defects Research. Part A, Clinical and Molecular Teratology
Qasem Asgari, Maysam Fekri, Ahmad Monabati, Mohsen Kalantary, Iraj Mohammadpour, Mohammad Hossein Motazedian, Bahador Sarkari
BACKGROUND: Congenital toxoplasmosis is associated with variable complications including encephalitis, microcephaly, hydrocephaly, hepatitis, lymphadenopathy and even intrauterine death. Presence of Toxoplasma gondii in human placenta may induce congenital infection. The aim of this study was to determine the genotypes of Toxoplasma gondii infection in human spontaneous aborted fetuses in Shiraz, south of Iran. METHODS: Five hundred and forty two paraffin-embedded blocks of aborted placenta were collected, from two university-affiliated hospitals in Shiraz...
2013: Iranian Journal of Public Health
S S Sant'Anna, K F Grego, C A B Lorigados, A C B C Fonseca-Pinto, W Fernandes, L C Sá-Rocha, J L Catão-Dias
Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2...
November 2013: Journal of Comparative Pathology
S Ohga, D Kang, T Kinjo, M Ochiai, T Doi, M Ishimura, Y Kayamori, M Urata, J Yamamoto, S-I Suenobu, H Kanegane, T Ikenoue, A Shirahata, T Hara
Severe heritable protein C (PC) deficiency is quite rare, although heterozygous PROC mutation is the second leading cause of genetic predisposition to thrombosis in Japanese adults. The aim of the study was to search the optimal management, the paediatric onset and outcomes of PC deficiency were characterized in Japan. The genetic study, postmarketing survey of activated PC(aPC) concentrate (Anact(®)C) and intensive review in Japan for 20 years enabled the analysis of the disease onset, genotype, treatment and prognosis...
May 2013: Haemophilia: the Official Journal of the World Federation of Hemophilia
George I Izuora, Kamel M Ayadi
OBJECTIVE: The aim of the study was to document the neuroimaging findings of children with infantile spasms (IS) seen over a 3-year period. METHODS: All children below the age of 4 years who presented to the Pediatric Department at the Northern Area Armed Forces Hospital, Hafr Al-Batin, Kingdom of Saudi Arabia from January 1, 1998 to December 31, 2000 with a history of seizures, atypical movements, psychomotor delay, flexor, extensor spasms or both were included in the study...
January 2004: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
Lh Tu, H Li, Hp Zhang, Xd Li, Jj Lin, Cl Xiong
BACKGROUND: To determine the prevalence and characteristics of birth defects in perinatal infants in Hubei Province during 200l-2008. METHODS: The prevalence of birth defects in perinatal infants delivered after 28 weeks or more was analyzed in Hubei surveillance hospitals during 200l-2008. RESULTS: The incidence of birth defects in perinatal infants from 200l to 2008 was 120.0 per 10,000 births, and was increased by about 41% from 81. 1 in 2001 to 138...
2012: Iranian Journal of Public Health
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