Publications by authors named "Ilaria Donati"

Background: Thoracic surgery is a high-risk surgery especially for the risk of postoperative pulmonary complications. Postoperative residual paralysis has been shown to be a risk factor for pulmonary complications. Nevertheless, there are few data in the literature concerning the use of neuromuscular blocking agent antagonists in patients undergoing lung surgery.

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Purpose: Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies).

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WAC (WW Domain Containing Adaptor With Coiled-Coil) mutations have been reported in only 20 individuals presenting a neurodevelopmental disorder characterized by intellectual disability, neonatal hypotonia, behavioral problems, and mildly dysmorphic features. Using targeted deep sequencing, we screened a cohort of 630 individuals with variable degrees of intellectual disability and identified five rare variants: two variants were inherited from healthy parents; two previously reported de novo mutations, c.1661_1664del (p.

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Article Synopsis
  • In clinical genetics, distinguishing between benign and pathogenic genetic variants in patients with neurodevelopmental disorders is crucial for accurate diagnosis and treatment.
  • Among 328 patient trios, 19 had small de novo copy number variants (CNVs), with some categorized as definitely pathogenic and others as variants of unknown significance (VUS).
  • The study highlights the potential links between specific CNVs and disorders, including a connection between SND1 and autism, a case of 17p13.1 microduplication syndrome, and an X-linked duplication potentially causing epilepsy.
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Background: Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage disorder Fabry disease (FD). Benign GLA intronic and exonic variants (e.

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Background: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation.

Methods: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia.

Results: The DBS revealed absent leukocyte -Gal A enzyme activity while DNA analysis identified the I354K mutation.

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Aims And Background: To evaluate postoperative pain (PoP) and quality of life (QoL) in patients undergoing open (O-) or laparoscopic (L-) retroperitoneal lymph node dissection (RPLND) for clinical stage I (CS I) and normal markers CS IIA nonseminomatous germ cell tumors.

Methods: Since March 2010, a prospective nonrandomized trial evaluated dynamic and rest (R) numeric pain scale (NPS) following patient-controlled analgesia and baseline (T0), 3-month (T3), and 6-month (T6) QoL status assessed by Functional Assessment of Cancer Therapy-General (FACT-G) questionnaire and the Italian-validated Functional Assessment of Chronic Illness Therapy (FACT-T-SG) at T6. Secondary endpoints included length of hospital stay (LHS), interval to recovery (ItR), complications, and oncologic outcomes.

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We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.

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