989 resultados para 46-396B
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Use of Reversions Report
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Weekly report of the Iowa Influenza Surveillance Network produced by the Iowa Department of Public Health.
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
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Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.
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Bureau of Nutrition and Health Promotion part of the Iowa Department of Public Health produces of weekly newsletter about the Iowa WIC Program for the State of Iowa citizen.
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Pursuant to Iowa Code Section 307.46(2), I submit the following report on the use of reversions. The Iowa Department of Transportation spent $498,703 of the Fiscal Year 2010 Road Use Tax Fund/Primary Road Fund budget reversion in Fiscal Year 2011 for desktop, server and network software, information technology professional services and computer equipment.
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The mission of the Iowa Civil Rights Commission is to end discrimination within the state of Iowa. To achieve this goal, the ICRC must effectively enforce the Iowa Civil Rights Act. The ICRA will be as effective as the Commission is in processing complaints of discrimination. The ICRC undertook significant steps forward in improving the timeliness and competency by which complaints of discrimination are processed. The screening unit was increased with special emphasis on improving the quality and quantity of the analysis of the initial screening decisions. The investigative process for nonhousing cases was completely overhauled. The improved process builds on the screening decision and focuses on the issues raised in that decision. The new process will help the ICRC reduce a significant backlog for non-housing cases. Additionally, we revamped the mediation program by moving to an allvolunteer mediation program. Over 20 Iowa lawyers volunteered to help the ICRC resolve complaints through alternative dispute resolution.
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Annual Report for the Iowa Civil Rights Commission
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Newsletter from the University of Iowa School of Library and Information Science.
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OBJECTIVES: Subependymal pseudocysts (SEPC) are cerebral periventricular cysts located on the floor of the lateral ventricle and result from regression of the germinal matrix. They are increasingly diagnosed on neonatal cranial ultrasound. While associated pathologies are reported, information about long-term prognosis is missing, and we aimed to investigate long-term follow-up of these patients. STUDY DESIGN: Newborns diagnosed with SEPC were enrolled for follow-up. Neurodevelopment outcome was assessed at 6, 18 and 46 months of age. RESULTS: 74 newborns were recruited: we found a high rate of antenatal events (63%), premature infants (66% <37 weeks, 31% <32 weeks) and twins (30%). MRI was performed in 31 patients, and cystic periventricular leukomalacia (c-PVL) was primarily falsely diagnosed in 9 of them. Underlying disease was diagnosed in 17 patients, 8 with congenital cytomegalovirus (CMV) infection, 5 with genetic and 4 with metabolic disease. Neurological examination (NE) at birth was normal for patients with SEPCs and no underlying disease, except one. Mean Developmental Quotient and IQ of these patients was 98.2 (±9.6SD; range 77-121), 94.6 (±14.2SD; 71-120) and 99.6 (±12.3SD; 76-120) at 6, 18 and 46 months of age, respectively, with no differences between the subtypes of SEPC. A subset analysis showed no outcome differences between preterm infants with or without SEPC, or between preterm of <32 GA and ≥32 GA. CONCLUSIONS: Neurodevelopment of newborns with SEPC was normal when no underlying disease was present. This study suggests that if NE is normal at birth and congenital CMV infection can be excluded, then no further investigations are needed. Moreover, it is crucial to differentiate SEPC from c-PVL which carries a poor prognosis.