Intravenous iloprost in systemic sclerosis and its effect in cardiopulmonary function: a retrospective observational study.

OBJECTIVE: This study aims at evaluating the disease progression, specifically in terms of cardiopulmonary function, in a group of consecutively enrolled systemic sclerosis (SSc) patients treated with the approved iloprost regimen. PATIENTS AND METHODS: A retrospective observational study was performed on 68 SSc patients treated with 5-6 infusions of iloprost per month for 6 hours per day at a dosage of 0.5-2.0 ng/kg/min through a portable syringe pump. All patients were evaluated for modified Rodnan skin score, systolic pulmonary arterial pressure, tricuspid annular plane systolic excursion, diffusing capacity of the lungs for carbon monoxide, forced vital capacity, alveolar volume, diffusing capacity of the lungs for carbon monoxide/alveolar volume, pro-brain natriuretic peptide (pBNP), New York Heart Association class, and the presence or absence of digital ulcers (DUs). RESULTS: After a follow-up period of 9.9±2.9 years, all patients improved in frequency and severity of the Raynaud phenomenon and showed a stabilization or improvement of cardiopulmonary parameters. The pulmonary arterial pressure and pBNP improved significantly from baseline (30.91±6.4 mmHg vs. 27.36±7.1 mmHg, and 97.20±69.3 pg/ml vs. 66.65±44.3 pg/ml, respectively; p<0.0001 for both). A significant improvement was observed in the modified Rodnan skin score in 57 patients who continued the treatment during the entire follow-up (5.09±5.7 vs. 3.30±4.2, p<0.0001). CONCLUSIONS: Despite the retrospective design and the lack of a control group, the regular and continued administration of iloprost maintained the stability of the cardiopulmonary and cutaneous parameters in SSc. It significantly reduced pBNP levels, a prognostic cardiac biomarker of SSc. Future research should be addressed to demonstrate a stronger causality of this effect.

Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children.

The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.

[Ultrasonics in the diagnosis and monitoring of cryptorchism in children]. / L'ecotomografia nella diagnosi e nel monitoraggio del criptorchidismo infantile.

The diagnostic reliability of US was investigated in the study of cryptorchidism during a 9-month clinical and US trial performed on 52 children (mean age 4.3 years). Cryptorchidism was unilateral in 44 cases (24 on the left side and 20 on the right side), and bilateral in 8 cases. Of 60 cryptorchid testes, 53--belonging to 45 of 52 patients--were located in the inguinal region (18 along the canal, 20 at the external ring, and 15 at the internal one); the others 7--belonging to the remaining 7 subjects--were found in an extra-inguinal region (4 in paravesical location and 3 in the inferior abdomen). US confirmed 29 undescended testes with clinical evidence in the inguinal region and identified, in the same area, 24 other testes which had been missed at clinical examination. In addition, US provided useful information as to both structure and volumetry of the gonads. On the other hand, US failed to provide reliable diagnostic results in the rare cases of pelvic and abdominal cryptorchidism, where precise testes localization was achieved by CT. US is the diagnostic technique of choice in the study of cryptorchidism (after clinical examination): the method is non-invasive and simple, has low cost and its use is widespread; moreover, US does not administer ionizing radiations. According to our experience, US had 88.3% diagnostic sensitivity as for undescended testes (53 of 60), and 100% specificity. In addition, US monitoring allowed clinical efficacy of therapeutic trials to be verified in 25 patients (17 sensitive to therapy): 16 of them were treated with human Chorionic Gonadotropin (hCG) and 9 with Luteinizing Hormone-Releasing Hormone (LH-RH).

[Role of diagnostic imaging in Rubinstein-Taybi syndrome. Personal experience with 8 cases]. / Ruolo della diagnostica per immagini nella sindrome di Rubinstein-Taybi. Esperienza personale su 8 casi.

Both etiology and pathogenesis of Rubinstein-Taybi syndrome (RTS) are still questionable, even though a genetic factor seems to be certain. A typical face, psychomotor delay, and thumb and halluces abnormalities (big, prevalently short, and often "spoon-like" toes) are the main characteristic patterns of RTS. Eight subjects (4 male and 3 female children aged 26 days-7 years, and a 31-year-old woman, mother of 1 of the affected children) with different signs of RTS were studied over the last 3 years. The results are here reported, with a special emphasis on malformations detected with conventional radiography (Rx), Computerized Tomography (CT), and ultrasound (US). Evaluated parameters were thumbs and halluces (Rx), bone age and skeleton (Rx), cranium (Rx) and encephalon (US, CT), cryptorchidism (US, CT), and urological (Rx, US) and cardiovascular (US) systems. A typical face and psychomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe (less than 3rd centile) bone maturation delay in 4 cases; skull volume reduction (less than 50th centile) in 3 subjects and microcrania in 4; skeletal abnormalities in 7 cases (5 of them positive for bilateral coxofemoral abnormalities); urinary tract (4 cases) and cardiovascular (3 cases) malformations; and cryptorchidism in 3 of 4 males. A case was diagnosed during neonatal period (within the first month of life); it was a rare case associated with a variant form of Dandy-Walker anomaly; semiologic similarities were observed between mother and daughter patients. X-rays, US and CT rarely play an important role in the diagnosis of RTS, considering the several clinical signs, mainly the face, affecting the patients. However, diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs.