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Anomalous origin of the pulmonary arteries from the ascending aorta is a rare, but severe clinical entity necessitating a scrupulous evaluation. Either the right or the left pulmonary arteries can arise directly from the ascending aorta while the other pulmonary artery retains its origin from the right ventricular outflow tract. Such a finding can be isolated or can coexist with several congenital heart lesions. Direct intrapericardial aortic origin, however, must be distinguished with origin through a persistently patent arterial duct. In the current era, clinical manifestations usually become evident in the newborn rather than during infancy, as used to be the case. They include respiratory distress or congestive heart failure due to increased pulmonary flow and poor feeding. The rate of survival has now increased due to early diagnosis and prompt surgical repair, should now be expected to be at least 95%. We have treated four neonates with this lesion over the past 7 years, all of whom survived surgical repair. Right ventricular systolic pressure was significantly decreased at follow-up. Our choice of treatment was to translocate the anomalous pulmonary artery in end-to-side fashion to the pulmonary trunk. Our aim in this report is to update an Italian experience in the diagnosis and treatment of anomalous direct origin of one pulmonary artery from the aorta, adding considerations on the lessons learned from our most recent review of the salient literature.

Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, the major constituent of anchoring fibrils essential for epithelial adhesion. RDEB is characterized by unremitting blistering, chronic painful wounds and fibrotic scarring that results in hand and foot pseudosyndactyly, microstomia, and esophageal strictures. RDEB complications include nutritional compromise, chronic anemia, failure to thrive, delayed puberty, osteoporosis, and renal involvement. In addition, early onset cutaneous squamous cell carcinomas (cSCC) represent the first cause of premature death. Despite recent progress in wound care, disease management still relies on symptomatic and preventive measures. No clinical practice guidelines specifically focused on the care of RDEB are currently available. The present multidisciplinary consensus recommendations were generated following a modified Delphi method with the aim to provide healthcare professionals with practical statements on RDEB management from birth to adulthood. Results Ten experts from six Italian EB reference centers developed 86 statements based on existing clinical practice guidelines and consensus recommendations for EB, literature data, and personal expertise. A multidisciplinary group of 30 members, representative of all major specialties relevant to RDEB management, participated to the anonymous online voting process. All statements reached consensus (> 75% agreement) at first voting round. Statements are divided into four major areas: (1) diagnosis, (2) neonatal age and infancy, (3) from childhood to adulthood, and (4) transversal age-independent issues, each of the last three comprising multiple domains of care. In particular, the section on patient care from childhood to adults deals with measures for management of wounds, gastrointestinal, eye and renal involvement, nutritional compromise, anemia, hand and foot deformities, cSCC, delayed puberty and osteoporosis, sexuality, pregnancy and delivery. Transversal issues comprise: pain and itch management, patient care in the operating theatre, physiotherapy and occupational therapy, therapeutic patient education and psychosocial support. Conclusions The proposed practical and synthetic recommendations cover all major issues in the management of patients with RDEB from birth to adulthood. They can represent a useful tool to support hospital healthcare personnel as well as primary care physicians in the complex multidisciplinary management of RDEB.

Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc. An early diagnosis is crucial to guarantee an appropriate care, which is best performed in reference centres by multidisciplinary teams. The aim of this study was to develop a multidisciplinary expert consensus for diagnosis, treatment, and follow-up of all disease manifestations, according to the recommendations of the Italian Law on Rare Disease Care. Results Through a Delphi consensus methodology, 28 recommendations have been developed concerning (i) dermatological SWS manifestations and related treatment timing and modalities, (ii) neurological referral, diagnosis, pharmacological treatment of neurological signs and symptoms, neurosurgical indications, neurocognitive evaluation and related treatment, psychosocial support and patient follow-up, (iii) diagnosis of ophthalmological manifestations, medical and surgical treatment, and follow-up, (iv) maxillofacial surgical treatment, (v) oral cavity assessment, care and follow-up, and (vi) primary care paediatrician/general practitioner involvement. Conclusions The present consensus developed by a multidisciplinary group of experts from Italian reference centres comprises practical recommendations for SWS global management, including currently controversial issues. Specific statements for all disease aspects, from skin manifestations and neurological and ocular signs and symptoms to oral and maxillofacial care, are provided. They can be exploited to uniform clinical practice in reference centres, but also in other hospitals and outpatient settings. Though this consensus has been developed taking primarily into account the Italian National Health System organization and rules on rare disorders, it could be translated also to other countries.