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Congenital Condition (congenital + condition)

Distribution by Scientific Domains

Medical Sciences	80%

Selected Abstracts

Polydactyly in the prehistoric American Southwest

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2006
D. T. Case
Abstract General surveys of skeletal collections from Arizona for evidence of trauma and pathology led to the identification of polydactyly in two subadults. Polydactyly is a congenital condition characterised by the presence of extra digits on the hands or feet. Both affected subadults exhibit a sixth digit in the form of a branching fifth metatarsal. One of the affected individuals is an infant from the Tapia del Cerrito site exhibiting Y-shaped fifth metatarsals indicative of postaxial type A polydactyly. The second individual is a juvenile from the Nuvakwewtaqa (Chavez Pass Ruin) site exhibiting a left fifth metatarsal with a lateral branch, also diagnosed as postaxial type A polydactyly. These two cases appear to be the first examples of polydactyly from archaeological contexts identified among subadults, and bring the total number of known cases from the American Southwest to six. Discovery of so many examples of this relatively rare condition amongst the Puebloan people of the Southwest adds to the evidence that, rather than simply being an artistic motif, rock art depictions featuring hands and feet with six digits were probably inspired by observation of the condition amongst living people. Furthermore, burial treatment of the Tapia del Cerrito infant suggests that polydactyly may have conferred a special status on the bearer. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy

INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2006
M. ATAR
Summary., This report describes the case of a young Chinese boy with Kabuki syndrome (KS). KS is a congenital condition characterized by multiple anomalies, especially of the face, and is usually associated with mild to moderate mental retardation. The patient presented with the characteristic facial features of KS and some skeletal and neurological anomalies including a butterfly vertebrae with scoliosis, cerebral atrophy, and irregular dentition. Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries. This report includes discussion of the aetiology of KS as well as discussion of the long-term prognosis for this particular patient, and patients with KS in general, with consideration of associated dental and medical issues. [source]

Patent Foramen Ovale Using the Premere Device: The Results of the CLOSEUP Trial

JOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 4 2006
FRANZISKA BÜSCHECK M.D.
Objectives: The CLOSEUP trial was conducted to determine the safety and effectiveness of the Premere closure device in closure of patent foramen ovale (PFO). Background: PFO is a relatively common congenital condition, associated with cryptogenic stroke and migraine with aura. The Premere device is specifically designed to close PFO of variable size and length, with right and left anchor arms connected by a flexible tether. The device has an open architecture, a low profile, and a small surface area on the left atrial side which may discourage thrombus formation. Methods: Patients between 18 and 65 years of age who had a cryptogenic ischemic stroke or a transient ischemic attack and a PFO underwent percutaneous PFO closure using the Premere device. Results: Of the 73 enrolled patients, six patients had atrial anatomy not appropriate for the Premere; 27 patients received the 15 mm and 40 patients received the 20 mm device. Implantation was successful in all patients. At 6 months of follow-up, 86% of patients had no shunt that could be provoked with Valsalva as assessed during contrast echocardiography. Closure rates were better with the 20 mm versus the 15 mm device, and three patients with residual shunt had atrial septal aneurysms at baseline. One patient had transient atrial fibrillation which resolved by 3 months. There were no instances of thrombus, death, or stroke. Conclusions: These data demonstrate that the Premere device can safely and effectively close PFO. Additional studies should be undertaken to demonstrate the effectiveness of PFO closure in reducing thrombo-embolic events such as stroke. [source]

Newborn Screening and Genetic Testing

JOURNAL OF OBSTETRIC, GYNECOLOGIC & NEONATAL NURSING, Issue 2 2002
FAAP, Michele A. Lloyd-Puryear MD
Mandated newborn screening programs for genetic and other congenital conditions for the some 4 million infants born in the United States each year have seen dramatic changes over the past decade. With the mapping of the human genome and other advances in science and technology, there will be continued challenges to and changes in these programs. Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices. [source]

Preconception Health Status of Iraqi Women After Trade Embargo

PUBLIC HEALTH NURSING, Issue 4 2008
Wafa Abdul Karim Abbas
ABSTRACT Objectives: To describe the preconception health status of Iraqi women in 2001 following the trade embargo imposed on Iraq beginning in 1991 and only partially removed in 1996. Design: A descriptive cross-sectional prevalence study. Sample: 500 Iraqi women at a premarital clinic in Baghdad in 2001. Measurements: Women were surveyed for age, area of residence, menstrual history, household crowding, consanguinity, and a family history of congenital problems. Clinical findings regarding height, weight, and hemoglobin level were included in the data. Results: Almost one third of the women were below the age of 20 and the majority were between 20 and 25 years of age. More than half of the women in this study had an intermediate-level education or less and lived in very crowded housing. Most of the women were anemic and reported a delay in menarche, suggesting malnutrition. Most of the women were planning consanguineous unions even though many reported congenital conditions in their family of origin. Conclusions: Young Iraqi women who endured embargo needed, and continue to need, aggressive preventive health services to recoup health gains lost during the 1990s and to address prevention of common congenital disorders. [source]