Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.      

Serodiagnosis of viral hepatitis A by a modified competitive binding radioimmunoassay for immunoglobulin M anti-hepatitis A virus.

A competitive binding radioimmunoassay (CBA) for antibody to hepatitis A virus (HAV) was evaluated and compared with a standard solid-phase radioimmunoassay for anti-HAV, CBA was found to be sensitive and specific for the detection of anti-HAV, as demonstrated by the 98% concordance of CBA and solid-phase radioimmunoassay test results. The standard CBA test was modified for the differential detection of acute (immunoglobulin M) and convalescent (immunoglobulin G) anti-HAV by incorporation of a step in which immunoglobulin G anti-HAV was preferentially absorbed with S. aureus cells (protein A). The modified CBA test was shown to be capable of differentiating between acute- and convalescent-phase sera. The modified CBAM test was able to detect immunoglobulin M anti-HAV up to approximately 4 weeks after the onset of illness.     

210. Möglichkeiten der intertrochanteren Osteotomie bei hüftgelenknahen Fehlstellungen und Pseudarthrosen

Zusammenfassung Von 133 Pseudarthrosen am coxalen Femurende wurden 44 Schenkelhals- und 5 pertrochantäre Pseudarthrosen mittels intertrochanter valgisierender Osteotomie behandelt. Bei 31 subtrochantären Pseudarthrosen erfolgte 9mal eine valgisierende Osteotomie in der Pseudarthrose. Alle Pseudarthrosen heilten knöchern aus, eine bereits zum Osteotomiezeitpunkt vorhandene Hüftkofnekrose ließ sich in der Regel nicht beeinflussen.     

Dynamic and static phantoms for evaluation of digital subtraction angiographic systems

Two types of phantoms were developed with which to evaluate the overall performance of digital subtraction angiography (DSA) systems. A dynamic phantom, called a "fish bone" phantom, consists of polyethylene tubes that simulate blood vessels with various lesions, such as stenoses, ulcers, and aneurysms. With this phantom, washout curves were obtained representing the relationship between iodine content and time. It will be useful for qualitative assessment of DSA images, evaluation of different image-processing schemes, and studies of blood flow analysis. A static phantom, called a "C-D" phantom, can be used for measurement of quantitative contrast-detail (C-D) diagrams and for daily monitoring of DSA systems. This was constructed of tubes of seven different diameters (2.15-0.28 mm) and 14 different concentrations of contrast medium (100%-1.1% Renografin-76 [meglumine and sodium diatrizoate]). The C-D diagrams were determined from an observer performance study using C-D phantom images obtained at four different DSA settings.     

Extensive surgical excision of large hemispheric “malignant” astrocytoma in a 6-week-old infant

A massive hemispheric high-grade astrocytoma, diagnosed in a 6-week-old infant, was totally excised by means of two craniotomies. The child is still alive and well with minimal neurological dysfunction 1.5 years after operation. This case report illustrates the benefit of aggressive surgical excision (without radiation or chemotherapy) of massive malignant neonatal astrocytomas. While surgical deficits may be minimized by the plasticity of the developing nervous system, extensive excision may yield occasional long-term palliation.     

Acute rectus sheath hematoma (differential diagnosis of acute abdomen)

The rectus sheath hematoma is a generally rare disease, however the frequency of occurrence has increased with introduction of anticoagulant therapy. It almost always mimics the symptoms of acute abdomen. In 7 out of 14 cases, which we observed, an anticoagulant therapy was administered. During this therapy 5 rectus sheath hematomas occurred spontaneously. In the remaining 2 patients severe coughing attacks were reported additionally. The case histories of the other 7 patients included 3 patients with bronchitis, 2 patients with trauma and 2 patients without a relevant history ("spontaneous"). The correct diagnosis of rectus sheath hematoma could primarily be revealed by sonography in 8 of 14 patients, after which an appropriate therapy followed. In 6 patients a laparotomy was performed, because rectus sheath hematoma was not considered. The correct diagnosis was found intraoperatively as a surprising assessment. By inclusion of rectus sheath hematoma in the differential diagnosis of acute abdomen and the verification by sonography an emergency laparotomy because of a false diagnosis in the often severe ill patients can be avoided in favour of a minor and more appropriate procedure.     

Quantifying the Ripple Effects of Civil War: How Armed Conflict Is Associated with More Severe Violence in the Home

Both the fields of public health and that of human rights seek to improve human well-being, including through reducing and preventing all forms of violence, to help individuals attain the highest quality of life. In both fields, mathematical methods can help “visibilize” the hidden architecture of violence, bringing new methods to bear to understand the scope and nuance of how violence affects populations. An increasing number of studies have examined how residing in a conflict-affected place may impact one of the most pervasive forms of violence—intimate partner violence (IPV)—during and after conflict. This paper contributes to this effort by examining whether severe forms of IPV are associated with previous experience of political violence in one conflict-affected country: Liberia. Our findings indicate that living in a district with conflict fatalities increased the risk of IPV among women by roughly 60%. Additionally, living in a district with conflict fatalities increased the risk of a past-year injury from IPV by 50%. This analysis brings to light links between two of the most pervasive forms of violence—political violence and violence against women. The findings suggest that women residing in a district that is more highly affected by conflict, not only people experiencing direct trauma during conflict, may be at risk of increased violence long after peace is declared. These findings point to the need for targeted programs that address IPV postconflict.     

Needle biopsy of renal allografts: comparison of two techniques

Two techniques for renal allograft biopsy were retrospectively evaluated to compare relative safety and efficacy. After ultrasound (US) localization of the kidney and biopsy with a hand-held 14-gauge cutting needle, an adequate specimen was obtained in 74 of 77 cases (96%). Major complications occurred in six of these 77 cases (8%). One hundred four biopsies were performed by using a smaller 18-gauge cutting needle with a spring-loaded biopsy "gun" and real-time US guidance. With this newer technique, specimens adequate for diagnosis were obtained in 99 biopsies (95%). There was a single major complication with this technique (1%). The 18-gauge needle with real-time US guidance yields comparably adequate specimens with a lower frequency of complications.     

The hidden competencies of healthcare: why self-esteem, accountability, and professionalism may affect hospital customer satisfaction scores

Data from 103 for-profit, nonprofit, and government-owned hospitals, spread across about half of the United States clearly show that there are common elements and several core competencies in all hospitals, some probably driven by JCAHO accreditation standards, but others coming from universal experience stemming from the changes in healthcare. The common competencies that are not, in my opinion, driven directly by the JCAHO standards include professionalism, accountability, self-esteem, customer service/focus, communication, information management/using data in decision making, and teamwork. There are several possible connections among the core competencies that suggest that the effects of accountability and possibly self-esteem on such outcomes as patient satisfaction and quality of care should be the subject of more research in healthcare settings. There are, however, several possible interventions to increase the core competency base of any hospital, which can be applied without this research. Executives and managers who attempt to measure and change these common competencies through selection, assessment, organizational system change, or reward and compensation systems will change the competence base of their workforce in critical areas needed in the future healthcare economy. Using a competence model incorporating these competencies may change the culture of the organization toward that which will be needed for survival in the twenty-first century.     

Endoscopic vs conventional hernia repair from an immunologic point of view

Background: In this study we tried to estimate the local surgical trauma in patients undergoing endoscopic or conventional hernia repair via the changes in peripheral blood T cell subpopulations (i.e., T-helper 1 (TH1) and TH2 cells), recently shown to be recruited differentially to inflammatory sites. Methods: Cells were identified flow-cytometrically by intracellular cytokine staining on a single cell level in 30 patients undergoing conventional (Shouldice) or total extraperitoneal patch (TEPP) hernia repair. Results: The TH1 cells decreased postoperatively in Shouldice patients on an average of 20.8–31.4%, whereas in TEPP patients only a minor decline (mean, 7.8–9.2%) was observed. The TH2 cells did not change significantly in TEPP patients, and a small increase (mean, 7.7%) was detected in Shouldice patients. Conclusions: Our results suggest that the postoperative reduction in TH1 cells reflects local surgical trauma and can be helpful in evaluating different surgical procedures. When conventional and endoscopic hernia repair were compared, the latter proved less traumatizing. Received: 18 March 1998/Accepted: 24 July 1998