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1/12. Inguinal hernias containing the uterus, fallopian tube, and ovary in premature female infants.

    Inguinal hernias were diagnosed at 42 and 38 weeks' postconceptional age in 2 premature girls. The hernial sac contained the uterus, one Fallopian tube, and one ovary. The diagnosis was made by physical and sonographic examination and was confirmed during surgical correction. We suggest sonography in the diagnostic workup in (premature) female infants with an inguinal hernia.
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2/12. A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.

    We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.
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3/12. Treadmill training for an infant born preterm with a grade III intraventricular hemorrhage.

    BACKGROUND AND PURPOSE: research has documented the feasibility and benefit of treadmill training in children with cerebral palsy and down syndrome. The purposes of this case report are: (1) to determine the feasibility of treadmill training in an infant at high risk for neuromotor dysfunction and (2) to describe the child's treadmill stepping patterns following treadmill training. CASE DESCRIPTION: The male infant, who had a grade III intraventricular hemorrhage following premature birth, began physical therapy and treadmill training at 51/4 months corrected age. Treadmill training was conducted 3 times weekly and videotaped weekly. Videotape analysis determined number of steps, step type, and foot position. OUTCOMES: Except for foot position, trends in treadmill stepping were similar to those of studies with infants not at high risk for neuromotor disabilities. DISCUSSION: This case report shows that treadmill training is feasible for an infant at high risk for neuromotor disabilities and may be associated with more mature stepping characteristics. Future research should evaluate optimum treadmill training parameters and long-term developmental outcomes.
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4/12. Congenital complete heart block: fetal management protocol, review of the literature, and report of the smallest successful pacemaker implantation.

    Fetuses with complete heart block have an increased mortality with most deaths occurring in utero or during infancy. The cardiac evaluation of these fetuses is difficult since the ventricular rate is low and the heart is dilated. We have implemented a strategy that includes the biophysical profile, which assesses fetal well-being, in combination with the cardiovascular profile that assesses cardiac function and the circulation. We present two cases of fetal complete heart block in which early delivery was recommended due to worsening cardiovascular profile scores. Biophysical profile scores were normal. Both babies were successfully treated, despite having risk factors that predicted poor outcomes. We hypothesize that our management protocol initiated intervention before fetal compromise, hydrops, and myocardial damage occurred. We recommend an evaluation of heart function in addition to an assessment of fetal well-being in fetuses with complete heart block. Early delivery should be considered if there is evidence of distress and/or deteriorating cardiac function.
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5/12. Benign opsoclonus in preterm infants.

    Opsoclonus is a rare childhood ocular motility disorder characterized by irregular, chaotic, involuntary bursts of high amplitude, back-and-forth oscillations of the eyes,without pause intervals. Although this disorder is associated with neuroblastoma and other neural crest tumors, as well as with other neurologic abnormalities, it was also reported in healthy infants. The purpose of this study was to prospectively investigate the prevalence of opsoclonus in preterm infants, and to find any conditions associated with this disorder. Between August 2000 and April 2003, 528 consecutive preterm infants with gestation of less than 33 weeks or birth weight of less than 1500 gm were examined in accordance with our medical centers' retinopathy of prematurity screening policy. Opsoclonus was identified in three patients (0.6%), who were all otherwise physically and neurologically intact. One patient developed threshold retinopathy of prematurity that resolved after laser treatment. On follow-up examinations, the opsoclonus gradually disappeared by the age of 6 months in all infants,with no other complications. This study suggests that opsoclonus can be a benign, self-limiting phenomenon in preterm infants as was previously reported in term infants. However, because of the risk of severe associated illnesses, it is prudent to perform several diagnostic procedures and to continue careful follow-up until this phenomenon spontaneously resolves.
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6/12. nursing care of the premature infant with severe combined immunodeficiency disease.

    diagnosis and treatment of severe combined immunodeficiency disease (SCID) is documented in fetuses, term infants, and older children; however, there is very little information on its diagnosis and treatment in premature infants. When Duke University Medical Center's first preterm infant with a known SCID history was delivered, in June 1999, there was no defined protocol for the infant's nursing care. Although many of the guidelines for nursing care of the premature infant population (< or = 36 weeks) apply, there are important considerations for preterm infants with an SCID diagnosis. This article provides background on SCID and identifies those special considerations--namely, multidisciplinary communication, infection prevention, thorough physical assessments, and parental support.
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7/12. Iatrogenic arteriovenous fistula after multiple arterial punctures.

    Multiple arterial punctures in the neonate can result in iatrogenic arteriovenous fistula formation. In one case, a 3-month-old infant who had been born prematurely was noted to have physical findings consistent with arteriovenous malformation following approximately 90 arterial blood gas determinations over a 13-week period. The area was explored and the lesion was treated surgically with good results.
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8/12. gallbladder distention in ill preterm infants.

    Four ill preterm infants each had a severely dilated gallbladder that was detected as a right-upper-quadrant abdominal mass. In each infant, the diagnosis was suspected on physical examination and confirmed by ultrasound study. One extremely premature infant with respiratory distress syndrome died, and at autopsy, the gallbladder and biliary tree showed no abnormalities, except for severe gallbladder distention. In the other three infants, distention of the gallbladder resolved spontaneously.
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9/12. Fracture of the femur, fish odour, and copper deficiency in a preterm infant.

    A preterm baby boy with blood and bone changes of copper deficiency is described. copper deficiency was suspected after fracture of the left femur during examination of the hip joint. A low serum copper concentration (2.7 mumol/l; 17.2 micrograms/100 ml) and caeruloplasmin (0.04 g/l; 0.004 g/100 ml) confirmed the diagnosis. Despite the introduction of solids at 18 weeks the copper concentration remained low, and treatment with copper sulphate (2.5 mg daily) was started at 6 months. Treatment was stopped at 9 months, when he was both physically and developmentally normal. When given a choline-containing vitamin preparation (Ketovite) he developed a fish odour because of the accumulation of trimethylamine. Withdrawal of this preparation at 6 weeks and substitution with a choline-free preparation (Abidec) was soon followed by disappearance of the odour. It is speculated that prematurity rather than copper deficiency was responsible for the poor activity of liver enzyme, trimethylamine oxidase.
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10/12. The thanatophoric dwarf. A report on two cases.

    Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death.
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