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.      

Psychiatric morbidity in stroke patients attending a neurology clinic in Nigeria

Back ground

Stroke produces a wide range of mental and emotional disorders. Neuropsychiatric complications associated with stroke may have negative effects on the social functioning, overall quality of life and the recovery of motor functioning of stroke survivors.

Objective

To determine the prevalence and nature of psychiatric morbidity among stroke patients attending neurology outpatient clinic of the University of Ilorin Teaching Hospital (UITH), Ilorin-Nigeria.

Methods

All patients with stroke aged 18 years and above at an outpatient neurology clinic in Ilorin, Nigeria were assessed for mental and emotional disorders using the Schedule for Clinical Assessment in Neuropsychiatry (SCAN) over one year (March 2009 to February 2010).

Results

Overall prevalence of psychiatric morbidity was 36.0% (30/83) among 83 patients who constituted the study population. Specific diagnoses recorded were depression (19.2%), generalised anxiety disorder (9.6%), harmful alcohol use (2.4%); dementia, somatoform disorder, phobia and delusional disorder each had a prevalence of 1.2%. Clinical and sociodemographic variables were not significantly associated with psychiatric morbidity.

Conclusion

Psychiatric disorders are often associated with stroke. Identifying and treating stroke patients with these psychiatric co-morbidities could thus help to improve the overall quality of life of these patients.     

Cellular sensitization against spermatic and seminal plasma antigens in women after intrauterine insemination

Summary Using an indirect lymphokin-assay, the leucocyte-migration-inhibition-test (LMI-test), the cellular sensitization of fertile and infertile patients before and after homologous and heterologous intrauterine insemination (IUI) was investigated. In this assay several preparations of spermatozoa (“washed”-, “swim-up”- and “pellet”-spermatozoa) in different concentrations (1, 5 and 10×10⁶ sperms/ml culture medium) and seminal plasma were tested as antigen. In all investigated groups a cellular immune response against spermatic antigen was demonstrable and seemed to be dose dependent. In contrast to fertile women who reacted with an enhancement of the macrophage migration for low concentrations the same concentration of antigen induced an inhibition of macrophage migration in fertile patients. For high concentrations of spermatic antigens there was a difference in the intensity of cell-mediated immune response between fertile and infertile women. Since infertile patients demonstrated an increased level of cell-mediated immune response it is possible that infertility may be caused by this altered immunological reaction. This response changes after multiple IUI-treatment and that change might be caused by the high concentration of spermatic antigens as there was a difference in the intensity of cell-mediated immune response between fertile and infertile women. Since infertile patients demonstrated an increased level of cell-mediated immune response it is possible that infertility may be caused by this altered immunological reaction. This response changes after multiple IUI-treatment and that change might be caused by the high concentration of spermatozoa. The immunological response of infertile patients seems to be similar in those receiving husband and donor IUI.     

Indikation und Ergebnisse der Verkürzungsosteotomie der Ulna

A relatively or absolutely too long ulna leads always to pain in the wrist, so that a compensation in length of both forearmbones is achieved by shortening osteotomy. The gradual ulna shortening osteotomy, the stylectomy and the resection of the caput ulnae with or without radius transposition osteotomy are available as shortening operation. In 17 patients of the Gießener Unfallchirurgischen Klinik we performed in 14 cases a shortening osteotomy of the ulna and in 3 cases a resection of the caput ulnae. The shortening osteotomy lead in all cases to a reduction of complaints and to an improvement of the mobility of the wrist. Due to frequent arthropathy the resection of the caput ulnae should be taken more often into consideration in older people.     

Das Karzinom des Nierenparenchyms

Zusammenfassung Nach Aufgliederung der prim?ren epithelialen Nierenparenchymtumoren aus pathologisch-anatomischer Sicht in 1. hypernephroide Karzinome, 2. papill?re Adenokarzinome, 3. übergangsformen von 1 und 2, werden Nierenveneneinbruch und Einbruch in das Nierenholsystem im Hinblick auf überlebenszeit bzw. H?maturie untersucht. Altersverteilung, Inivialsymptome und Laboratoriumsbefunde werden in Tabellen aufgeführt. In der R?ntgendiagnostik wird die überragende Bedeutung der Aortographie hervorgehoben und ihre Grenzen besprochen. Schlie?lich erfolgt die Darstellung der überlebensrate nach verschiedenen Einteilungsprinzipien: Tumor auf die Niere beschr?nkt, perirenale Infiltration, Veneneinbruch, makroskopisch radikal operiert und die Ergebnisse aller operierten Patienten.

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Summary Classification of the primary epithelial tumors of the kidney parenchyma from a patho-anatomical standpoint in 1. hypernephroid carcinoma, 2. papillary adenocarcinoma, 3. transition of 1 to 2, invasion to renal vene and to calyx-pelvic system in relation to survival rate and haematuria is examinated. Age distribution, initial symptoms and laboratory findings are summarized in tables. The importance of aortography in the roentgenologic diagnostic of renal is emphasized. Discussion of survival rate according to: intraparenchymal tumor, perirenal and vene invasion, nephrectomy macroscopic radical and results of all operated patients.

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Mit Unterstützung aus dem Felix-Mandl-Fonds zur F?rderung wissenschaftlicher Arbeiten an den St?dtischen Krankenanstalten der Gemeinde Wien und aus der Ludwig-Boltzmann-Gesellschaft zur F?rderung der wissenschaftlichen Forschung in ?sterreich.