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Biomedical subjects

S Kirkpatrick

Publications and source records attributed to S Kirkpatrick.

14 recordsLinked to original sources
PubMed2006

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. The aniridia and predisposition for Wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively. We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of WAGR syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a diagnosis of WAGRO (WAGR + Obesity). Chromosome analysis revealed a translocation (11;15)(p13;p11.2) which has not been previously associated with a diagnosis of WAGR. Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.

Abnormalities, Multiple↗
PubMed1996

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.

More than 100 X-linked mental retardation syndromes have been described. We report the localization of the disease gene, MRX23, in one family to Xq23-24. Affected family members present with non-specific X-linked mental retardation with verbal disability (BDOAS 10, 1-100). MRX23 is tightly linked to the markers DXS1220 (Z = 3.76 at theta = 0.1) and DXS424 (Z = 3.9 at theta = 0.06). Multipoint linkage analysis, taking five loci (DXS1072-0.07-DXS1220-0.014-MRX23-0.01-DXS 424-0.08-DXS1001) at a time, gives a maximum LOD score of 6.7 between these two markers. The next most likely location, between DXS424 and DXS1001 is 120-fold less likely. Haplotype analysis also indicates the most likely location for the disease gene is between DXS1220 and DXS424.

Chromosome Mapping↗
PubMed1995

Using information networks as a decision-making tool.

Reforms in healthcare have made the industry more competitive than ever. With budgets being cut all across the country, many healthcare managers are being asked to do more with less, and to do it more quickly. This combination of dynamics creates the need for tools that can help healthcare decision makers make good strategic decisions quickly and confidently. One such tool available to hospitals are information networks. A healthcare information network is an organization that streamlines and expedites decision-making processes by providing healthcare facilities with information that is either too time consuming or impossible for the facility to gather on its own. The information networks conduct research, analyze and condense the findings, and forward relevant data to the member facilities. By outsourcing the tedious research, analysis, synthesis, and presentation of key decision-making data to the information networks, member hospitals free their limited resources to concentrate on the details of the day-to-day operations. In most cases, hospitals that use information networks can also receive the information back more quickly than if they had done the research themselves.

Computer Communication Networks↗
PubMed1989

Optic atrophy, hearing loss, and peripheral neuropathy.

Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first-appearing symptom also results in a clean division by most-likely inheritance.

Adult↗
PubMed1988

Acute hemoperitoneum from rupture of a hepatocellular carcinoma.

A male patient with cirrhosis presented with acute right upper quadrant pain, systemic hypotension, and falling hematocrit. Abdominal paracentesis confirmed acute hemoperitoneum, and abdominal computed tomography (CT) scan demonstrated a large hepatic mass consistent with hepatocellular carcinoma (HCC). This rare presentation of a malignancy uncommon in North America leads to a discussion of the differential diagnosis of acute hemoperitoneum and a review of the literature on acute hemoperitoneum and HCC.

Acute Disease↗
PubMed1987

Improved survival in variceal hemorrhage with emergent sclerotherapy.

Over a 2-yr period (1984-1985) we performed emergent endoscopic injection sclerotherapy (EIS) within 12 h in 25 consecutive episodes of variceal hemorrhage (VH). The outcome was compared to the preemergent period (1982-1984) when 22 episodes of VH were treated first with vasopressin and balloon tamponade, and then by EIS, in cases which failed to resolve. In those with decompensated liver disease, average transfusions dropped from 12.3 to 7.1 units of blood. Continued bleeding decreased from 53% to 13% and mortality from 47% to 13%. Persons with compensated liver disease had fewer recurrent bleeding episodes, and tended toward decreased transfusion requirements and mortality with EIS. Our experience suggests that emergent EIS is the treatment of choice for acute VH.

Blood Transfusion↗
PubMedDate not supplied

Effects of contrast material on dimensions and hemodynamics of the newborn heart: a study in conscious newborn lambs.

Injections of contrast material (Hypaque M-75%) and normal saline into the left ventricle (LV) of 1- to 3-month-old conscious lambs, during continuous monitoring of LV internal dimensions and pressures, revealed instaneous increases in LV end diastolic and end systolic volumes and LV end diastolic pressure. After contrast material, these alterations were sustained. Contrast injections were also accompanied by a mild depression in LV contractile state (dp/dt/P), systemic vasodilatation and persistent augmentation of cardiac output. The immediate effects on LV dimensions are primarily a consequence of acute volume expansion of the LV by the injection while the sustained changes likely reflect an expanded intravascular volume.

Animals↗
PubMedDate not supplied

The Iowa Articulation Story. Collaboration works.

Historically, Iowa has had a majority of diploma and associate degree nursing graduates. Although educational mobility for registered nurses to obtain baccalaureate nursing degrees was available in Iowa before 1991, direct nursing education articulation did not exist. The impetus for developing a statewide nursing articulation plan to facilitate the entry of registered nurses to baccalaureate nursing programs was the result of a recommendation from the Iowa Board of Nursing's 1988 Statewide Plan for Nursing. The Iowa Articulation Plan for Nursing Education: RN to Baccalaureate, implemented in 1991, resulted from collaboration among nurse educators from all levels of nursing and nursing service representatives. The plan consists of four separate options and can be adapted for use in other parts of the country. The Iowa articulation story describes the process used and outcomes achieved when nurses collaborate to advance nursing education.

Education, Nursing, Baccalaureate↗