A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.

Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections. Patients will benefit from supportive therapy and special education. It is important in terms of prognosis to provide counseling to families in this respect. We present here a case with Wolf-Hirschhorn Syndrome in order to remind its rarity and the ability of the patients' progress in the areas of motor skills, speech, social interaction.

[Differential diagnosis of axillary lymph nodes: Usefulness of gray-scale and color-power doppler sonography]. / Aksiller lenfadenopatilerin ayirici tanisinda griskala ve renkli-power Doppler ultrasonografi.

PURPOSE: To evaluate and compare the usefulness of gray-scale and color-power Doppler sonography in differentiating benign from malignant axillary lymph nodes, and to find out whether the combined usage of both modalities increased the diagnostic accuracy. MATERIALS AND METHODS: Sixty lymph nodes in 59 patients were evaluated by gray-scale and color-power Doppler sonography. Color-power Doppler evaluation was based on the morphological patterns of vascularity. Spectral wave form analysis was also performed. Sensitivity, specificity, positive and negative predictive values and overall accuracy were calculated for each modality and for the combined usage of both modalities. When two modalities were used in combination a lymph node was accepted to be 'malignant' if it was diagnosed as 'malignant' by either or both of the modalities. RESULTS: Forty lymph nodes were confirmed to be malignant and 20 were benign by histopathologic or sytologic examination or by clinical and sonographic follow-up. Gray-scale and color-power sonography had sensitivities of 92%, 89%; specificities of 70%, 75%; positive predictive values of 86%, 87%; negative predictive values of 82%, 79%; and overall accuracies of 85%, 85% respectively. The combined usage of both modalities yielded a sensitivity of 98%, specificity of 70%, positive predictive value of 87%, negative predictive value of 88%, and an overall accuracy of 88%. CONCLUSION: Gray-scale sonography and color-power Doppler examination have the same overall accuracy for the differentiation of benign from malignant axillary lymph nodes. Spectral wave form analysis was proved to be statistically insignificant. The combined usage of both modalities would decrease the number of false negative cases.

Renal hemodynamics in patients with obstructive uropathy evaluated by color Doppler sonography.

OBJECTIVES: Prior animal studies have shown through direct pressure measurements that there is a definite rise in the renal vascular resistance in obstruction. Therefore intrarenal hemodynamic changes can be determined by the vascular impedance expressed as pulsatility and resistive indexes (PI and RI) obtained from the Doppler waveforms of intrarenal arteries. We investigated whether various degrees of obstruction result in different hemodynamic responses according to color Doppler sonography. METHODS: 22 kidneys with varied degrees of hydronephrosis and 19 normal kidneys were examined. The pulsatility and resistive index of Doppler waveforms from interlobar arteries were obtained. The grade of hydronephrosis was based upon the width of parenchyma. RESULTS: The mean resistive index in the study and controls were 0.70 +/- 0.07 and 0.60 +/- 0.03, respectively. The difference was significant (p < 0.001). Pulsatility indexes in the study and controls were 1.07 +/- 0.34 and 0.98 +/- 0.23, respectively. The difference was not significant (p > 0.005). Significant difference was also noticed in the parenchymal widths between both groups (p < 0.001). CONCLUSION: It appeared that intrarenal color Doppler sonography can provide physiologic information reflecting renal vascular resistance status by means of an easily obtained parameter: resistive index.

Prospective comparison of colour Doppler ultrasonography and testicular scintigraphy in acute scrotum.

The aim of this prospective study was to compare the effectiveness of colour Doppler ultrasound and testicular scintigraphy in the differential diagnosis of acute scrotum. Ten patients were investigated by clinical examination initially and by both techniques afterwards. Scintigraphy was performed in a blind fashion. According to the findings, 3 patients were categorized as acute ischaemia and 7 as inflammation. The 3 patients diagnosed as ischaemia underwent surgical exploration. Both imaging techniques predicted ischaemia (100%). In the inflammation group conservative therapy and follow-up were chosen. Ultrasonography alone established the correct diagnosis in 7/7, whereas scintigraphy in 5/7 of the patients.

Value of color Doppler sonography in the diagnosis of venous impotence.

The gold standard in the diagnosis of venous impotence is cavernosometry. But a less invasive and time-consuming screening test for patients with a high probability of venous impotence is required. Therefore we evaluated 82 men with erectile dysfunction by color Doppler sonography after intracavernosal injection of 60 mg papaverine. 28 of them who had a poor erectile response but sufficient arterial inflow were included in this study. 6 patients who were previously found to have psychogenic impotence formed the control group. After pharmacological stimulation by papaverine, all patients were examined for 20 min by color Doppler sonography in order to detect diastolic flow velocities in the cavernosal arteries and erectile responses. Both groups of patients underwent pharmaco-cavernosometry in a blind fashion afterwards. The diagnosis of venous impotence with color Doppler sonography was confirmed by dynamic pharmaco-cavernosometry in 25 of 28 (89%) and 6 of 6 (100%) subjects of the study and control groups, respectively. Statistically, in the diagnosis of venous dysfunction, color Doppler sonography had a sensitivity of 100%, specificity of 66.6%, accuracy rate of 91% and a positive predictive value of 0.892. The gold standard in the diagnosis of venous impotence is still cavernosometry, but it seems that color Doppler sonography may provide a sensitive assessment of penile venous competence.