Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion.

Key Clinical Message: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor.

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.

The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with other anomalies, except with slight facial dysmorphism. Molecular multigenic analysis for intellectual disability identified a previously unreported variant, p.Ile1765Met (c.

Neuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children.

Background: Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood.

Eribulin in cutaneous breast cancer metastasis treatment: clinical activity and symptom control.

Aim: This observational study evaluated the behavior and outcome of cutaneous breast cancer metastasis treated with eribulin.

Patients & Methods: From November 2012 to January 2013, oncologists completed a database with patient, tumor and treatment characteristics from 14 Italian cancer centers. Skin lesions were assessed by Response Evaluation Criteria In Solid Tumors and cutaneous symptoms by present/absent criteria.

Central precocious puberty and granulosa cell ovarian tumor in an 8-year old female.

Ovarian tumors associated with hormonal changes of the peripheral iso-sexual precocious puberty are of common presentation. We describe here a rare case of juvenile granulosa cell tumor in a female with central precocious puberty (CPP). An 8-year old girl with CPP presented with vaginal bleeding four months after the diagnosis and before starting treatment with gonadotropin-releasing hormone (GnRH)-analogs.

Assessment and treatment of symptoms among Italian medical oncologists.

Objectives: This work was conducted to evaluate symptoms assessment and use of patient-tailored protocols in clinical practice among Italian medical oncologists.

Methods: A questionnaire based on four topics (assessment of symptoms, assessment of a specific symptom, assessment of pain, use of patient-tailored protocols of treatment) was administered to 250 Italian medical oncologists.

Results: Of these oncologists, 43.