ABSTRACT
This study is a retrospective inquiry, based on the data of University Hospital "L. Sacco" in the period of five years 2002-2006. They were analyzed the relevant data to beyond 350 events cause of working inability.
Subject(s)
Accidents, Occupational/statistics & numerical data , Hospitals, Teaching , Personnel, Hospital , Professional Impairment/statistics & numerical data , Accidents, Occupational/prevention & control , Humans , Retrospective StudiesABSTRACT
Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.
Subject(s)
Anophthalmos/complications , Kidney/abnormalities , Limb Deformities, Congenital/complications , Consanguinity , Ethnicity , Humans , Infant , Italy , Male , Syndactyly/complications , Waardenburg Syndrome/diagnosisSubject(s)
Alleles , Ethnicity/genetics , Genetic Variation/genetics , Oxidoreductases/genetics , Gene Frequency/genetics , Genetics, Population/methods , Genetics, Population/statistics & numerical data , Humans , Infant, Newborn , Methylenetetrahydrofolate Dehydrogenase (NAD+) , Models, Genetic , Neonatal Screening/methodsABSTRACT
Since the early 1970s, when continuous positive airways pressure (CPAP) was introduced as a method of treatment of neonatal respiratory distress, many technical approaches have been suggested. The Authors report their experience with a new technique for nasal CPAP which has been developed to minimize impedance to breathing and offering maximum airway pressure stability and tolerance to leakage. Thirty-two newborns with symptoms of RDS were treated with Infant Flow System, a new device for nasal CPAP with nasal prongs which resulted inexpensive, simple to use and with lower risk for serious complications. Furthermore, the results suggest that treatment by early CPAP with nasal prongs in newborns presenting symptoms of RDS can be effective in reducing the number of newborns transferred to the third level Unit.
Subject(s)
Positive-Pressure Respiration , Respiratory Distress Syndrome, Newborn/therapy , Female , Humans , Infant , Infant, Newborn , MaleABSTRACT
A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina.
Subject(s)
Bone Diseases/physiopathology , Osteosclerosis/physiopathology , Skull/abnormalities , Visual Fields , Bone Diseases/diagnostic imaging , Child , Female , Humans , Infant, Newborn , Osteosclerosis/diagnostic imaging , Radiography , Skull/diagnostic imaging , SyndromeABSTRACT
Lung specimens of 27 patients under six months of age with complete transposition of the great arteries (TGA), obtained at autopsy, were studied histologically. No evidence of hypertensive pulmonary vascular disease was found in patients under four months of age (23 patients), while obstructive intimal proliferations were seen in 2 patients, aged four and five months, with TGA and VSD. Since pulmonary vascular lesions in transposition with VSD appear early in infancy, timely palliative procedures, such as banding of the pulmonary artery, are strongly indicated when the radical corrective operation is to be postponed.