Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasma-derived C1-inhibitor.

Background: In women with Hereditary Angioedema (HAE) due to C1-inhibitor (C1INH) deficiency (C1INH-HAE), pregnancy counseling and treatment can be challenging. Despite the evidence of the immediate favorable outcome and safety of plasma-derived (pd)C1INH concentrate, there are no data regarding any difference among women who underwent or not pdC1INH during pregnancy or on children with in utero exposure to pdC1INH. The present interview study aimed at analyzing outcome of C1INH-HAE mothers and children according to pdC1INH-exposure during pregnancies. Methods: C1INH-HAE women who experienced at least 1 pregnancy were included from seven centers of the Italian Network for Hereditary and Acquired Angioedema (ITACA). The interview study retrospectively analyzed pregnancies who underwent (group 1) or not (group 2) pdC1INH. The overall goals of the study included immediate and long-term outcomes, in terms of outcomes in the time interval between pregnancy and survey. Results: A total of 168 pregnancies from 87 included women were analyzed. At term delivery (>37 gestation-week, GW) has been registered in 73.8% of cases, while spontaneous abortion (SA) occurred in 14.2% of cases with a mean GW 7 ± 2. The group 1 including pdC1INH-treated pregnancies comprised a third of the cohort (51/168, time interval 1.5 ± 10.4 yrs), while the group 2 represented 69.6% (117/168, time interval 32.8 ± 14 yrs). The same prevalence of SA occurred when comparing group 1 (11.7%) with group 2 (15.4%) with a similar GW at SA. The group 1 was older at the pregnancy time and younger at the interview than the group 2 (P < 0.01 for both); moreover, the group 1 showed a higher prevalence of cesarean delivery (P < 0.0001). The overall prevalence of obstetrical syndromes was similar between two groups: however, gestational diabetes was described only in pdC1INH-untreated pregnancies. In utero pdC1INH-exposed children (n = 45) did not show differences compared with unexposed ones (n = 99) in neonatal short-term outcomes. Conclusion: Through appropriate management and counseling, most of C1INH-HAE women undergo successful pregnancy and delivery. For pregnant C1INH-HAE women being treated with pdC1INH, our findings are reassuring and might lead to an improvement of both the knowledge about treatments and the experience of HAE itself.

[Neuroblastoma with muscular localization: description of a case]. / Neuroblastoma a localizzazione muscolare: descrizione di un caso.

An unusual case of abdominal neuroblastoma, whose extension involved the psoas muscle, leading to an ultrasonographic and Magnetic Resonance imaging simulating an haematoma, is described. Histology disclosed the malignant nature of the muscle mass. The Authors discuss the value of the new imaging techniques and in particular of Magnetic Resonance in the diagnostic work-up of paediatric malignancies.

[Paratesticular rhabdomyosarcoma: presentation of a case load and considerations on the current therapeutic management]. / I rabdomiosarcomi paratesticolari: presentazione della casistica e considerazioni sugli attuali atteggiamenti terapeutici.

The Authors report their experience in the management of paratesticular rhabdomyosarcomas observed in the last 5 years (3 cases). Clinical and instrumental findings are analyzed; their therapeutic planes and suggestions of National Protocol RMS 88 are compared.

Epididymo-testicular anomalies in the undescended testis. How important is their effect on infertility?

Infertility in subjects affected by undesceded testis occurs in from 25 to 100% of the cases according to the various Authors. This depends on whether one or both gonads are concerned and on the age when medical and/or surgical treatment of the condition was begun. Our study was made in two successive periods: first we studied the secretory causes of infertility by examining some histological parameters, (MTD, IFT), and endocrinological ones, (basal testosterone and then after HCG, basal gonadotropin and then after GnRH) in 43 subjects of ages ranging between 2 and 13 years who are affected by uni- or bilateral maldescension. We then analysed the excretory causes of infertility and classified and interpreted 108 epididymo-testicular malformations out of a total of 144 undescended testis observed during our last year of work. We conclude that from a histological point of view, from the third year after birth there is a steady progressive reduction in the tubular fertility index in undescended testis compared to scrotal testis. There is no significant reduction, however, in the mean tubular diameter up to the prepubertal phase. From the endocrinological point of view, we found a normal LH secretion and hypertonia in the pituitary secretion of FSH in bilateral maldescension, not found, however, in unilateral maldescension. Finally, anomalies concerning the epididymo-testicular relationship are found in 75% of undescended testis and of these 36% have a definite effect on infertility of the excretory type.