Rare Diseases Symptoms Automatic Extraction

Multidisciplinary approach to congenital Toxoplasma infection: an Italian nationwide survey.

[congenital toxoplasmosis]

Italy provides a free voluntary serological screening for toxoplasmosis in pregnancy supported by public health system, as there is an estimated congenital toxoplasmosis rate of 1-2/10,000. The aim of this study was to make an inventory of diagnostic and therapeutic protocols in use in Italy in the absence of a national guideline. A semistructured questionnaire was distributed to AMCLI (Italian Association of Clinical Microbiologists) members who were asked to involve other specialists to fill in the form. Data from 26 centers show: a) a general use of the IgG avidity test to solve diagnosis in IgG/IgM positive, pregnant women; b) a widespread attitude to spyramicin antenatal treatment in suspected, unconfirmed maternal infection; c) avoidance of invasive antenatal diagnosis only in suspected early or late (>24 weeks), even confirmed, maternal infection d) fetal diagnosis performed by PCR assays on amniotic fluid; e) variability of both indications and dosage of pyrimethamine-sulfadiazine (P-S) as fetal treatment; f) use of comparative mother and newborn IgG/IgM Immuneblot in most centers; g) no diagnostic tests performed on placenta and cord blood; h) spyramicin is no longer used in congenital infections; i) no P-S-based treatment for children at high risk of congenital infection (late maternal infection) in the absence of diagnosis. As there is the opportunity to test pregnant women for Toxoplasma gondii infection in Italy free of charge, standardized diagnostic and therapeutic national guidelines would focus on a more uniform approach.

Diseases presenting "high risk" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • alpha-thalassemia
  • aniridia
  • canavan disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • werner syndrome

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