Diagnosis and treatment of esophageal achalasia in children

The article shows the results of diagnosis and treatment of achalasia of the esophagus in 21 children aged from 20 months to 15 years. Radiological examination with the use of the nitroglycerin test was highly informative and authentic in all cases. To evaluate the condition of the esophagus, additional endoscopic and esophagomanometric examination is necessary. From analysis of the results of drug therapy in all patients, operative in 13, and pneumocardiodilatation in 7 children it was found that treatment of achalasia of the esophagus in children should begin with forced pneumodilatation. Modified Heller's operation with fundoplication produces good results.     

Mathematical evaluation of methods of determining the fibrinolytic activity of whole blood]

Mathematical analysis of the adequacy of laboratory tests for estimation of blood fibrinolytic activity, routinely used in practical obstetrics, has shown that any of the known methods may be used in healthy nonpregnant and pregnant women for the diagnosis of fibrinolysis system abnormalities. To diagnose such conditions in women with pathologic pregnancy two laboratory tests should be employed with due consideration for their impact.     

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.     

Prognosis, monitoring and intensive therapy in the prevention of the development of hemorrhagic complications in labor

Blood clotting system has been studied over the course of pregnancy. The detected close correlations between hemostasiograms and labor hemorrhages suggested the possibility of predicting hemorrhagic complications. Based on informative signs, the authors formulate the rules for predicting hemorrhagic complications of labor starting from the first trimester and define the algorithm of monitoring the hemostasis system. Application of this system helped decrease the incidence of labor hemorrhages by half by means of appropriate preventive therapy.