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Congenital hydrocephaly

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...
December 6, 2016: 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
Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri
The aim of this study was to document some epidemiological features of termination of pregnancy for birth defects in Iran. We studied 603 pregnant women who were diagnosed/recommended for the termination of pregnancy as having a fetus with some types of birth defect(s). Most women (87.2 percent) had at least one ultrasound examination. The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. Of 603 women, 201 terminated the pregnancy giving a prevalence rate of 33...
2012: Journal of Pregnancy
Hao T Duong, Adrienne T Hoyt, Suzan L Carmichael, Suzanne M Gilboa, Mark A Canfield, Amy Case, Melanie L McNeese, Dorothy Kim Waller
BACKGROUND: Although associations between maternal parity and birth defects have been observed previously, few studies have focused on the possibility that parity is an independent risk factor for birth defects. We investigated the relation between levels of parity and a range of birth defects, adjusting each defect group for the same covariates. METHODS: We included infants who had an estimated delivery date between 1997 and 2007 and participated in the National Birth Defects Prevention Study, a multisite case-control study...
April 2012: Birth Defects Research. Part A, Clinical and Molecular Teratology
Tanya T Kitova, Masmoudi Aida, Zghall Dorra, Chelli Dalenda, Soumeya Siala Gaigi
UNLABELLED: Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition. The present study AIMED at finding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications...
July 2011: Folia Medica
Mohammad Bager Hosseini, Zhila Khamnian, Saeed Dastgiri, Bahram Samadi Raad, Yalda Ravanshad
The aim of this study was to evaluate the impact of folic acid use in pregnancy for the reduction of neural tube defects (NTDs) in the northwest region of Iran. We studied 243 women with pregnancies complicated by some forms of birth defect(s). These patients were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies. The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7 percent. Consumption of folic acid prevented NTDs by 79 percent (Odds Ratio = 0...
2011: Journal of Pregnancy
Fatih Serhat Erol, Necati Ucler, Huseyin Yakar
Basically Chiari type III malformation is a combination of encephalocele with of brain stem and cerebellar abnormality. Although Klippel-Feil syndrome may be associated with other congenital anomalies, this syndrome is mainly associated with varying degrees of cervical vertebral fusion anomalies. In this study, we reported the association of Chiari type III malformation and Klippel-Feil syndrome with the mirror movement by imaging studies. The main involvement in Chiari type III malformation and Klippel-Feil syndrome is in the craniocervical junction...
2011: Turkish Neurosurgery
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