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We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 15q with evidence of a terminal deletion of the same rearranged chromosome. The proband was a multiple congenital malformed female with a prenatal diagnosis of trisomy 15q and an extremely severe clinical course. The phenotype of the patient was characterized by marked intrauterine growth retardation, congenital heart defect, ''horseshoe'' kidney, hand contractures, and clubfeet. The exitus came at 20 days because of progressive cardio-respiratory impairment. Overall, the clinical phenotype appeared more severe than usual trisomy 15q syndrome. Postnatal cytogenetic and molecular studies unraveled a ''de novo'' inverted duplication of 15q (q21.3!q26.3), associated with the deletion of the 15q telomere and part of the band 15q26.3. A single copy region spanning approximately 600 kb between the duplicated segments was present. Correlation between the clinical findings of the patient and the phenotype of trisomy 15q reported in literature is also provided.

Contains fulltext : 249078.pdf (Publisher’s version ) (Open Access) OBJECTIVES: To assess the effect of migrant status on treatment outcomes among children living with HIV in Europe. METHODS: Children aged

BackgroundBreast surgery in the United States is common. Pain affects up to 50% of women undergoing breast surgery and can interfere with postoperative outcomes. General anesthesia is the conventional, most frequently used anaesthetic technique. Various locoregional anesthetic techniques are also used for breast surgeries. A systematic review of the use of locoregional anesthesia for postoperative pain in breast surgery is needed to clarify its role in pain management.ObjectivesTo systematically review literature to establish the efficacy and the safety of locoregional anesthesia used in the treatment of pain after breast surgery.MethodsEmbase, MEDLINE, Google Scholar and Cochrane Central Trials Register were systematically searched in Mars 2020 for studies examining locoregional anesthesia for management of pain in adults after breast surgery. The methodological quality of the studies and their results were appraised using the Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN) checklist and specific measurement properties criteria, respectively.ResultsNineteen studies evaluating locoregional anesthesia were included: 1058 patients underwent lumpectomy/mastectomy, 142 breast augmentation and 79 breast reduction. Locoregional anesthesia provides effective anesthesia and analgesia in the perioperative setting, however no statistically significant difference emerged if compared to other techniques. For mastectomy only, the use of locoregional techniques reduces pain in the first hour after the end of the surgery if compared to other procedures (p = 0.02). Other potentially beneficial effects of locoregional anesthesia include decreased need for opioids, decreased postoperative nausea and vomiting, fewer complications and increased patient satisfaction. All this improves postoperative recovery and shortens hospitalization stay. In none of these cases, locoregional anesthesia was statistically superior to other techniques.ConclusionThe results of our review showed no differences between locoregional anesthesia and other techniques in the management of breast surgery. Locoregional techniques are superior in reducing pain in the first hour after mastectomy.

Highlights • Hemipelvectomy with immediate reconstruction with prosthetic devices for the surgical treatment of malignant tumors is an invasive procedure. • The treatment of an exposed hip implant in these cluster of patient is extremely challenging and the literature shows how negative pressure wound therapy and myocutaneous, both pedicled and free, flaps are workhorses in these situations. • The literature shows that the gold standard in the coverage of exposed prosthetic devices and in the treatment of infected non healing wounds is represented by muscular or myocutaneous flap. • In this paper we report a successful coverage of exposed prosthetic hip implant with a local fasciocutaneous flap in a patient in which any other kind of reconstruction was not feasible., Introduction Hemipelvectomy with immediate reconstruction with prosthetic devices for the surgical treatment of malignant tumors is an invasive procedure with many possible complications such as wound breakdown, seroma, hematoma and infection. The treatment of an exposed hip implant in these cluster of patient is extremely challenging and the literature shows how negative pressure wound therapy and myocutaneous, both pedicled and free, flaps are workhorses in these situations. Case report In this paper we report a successful coverage of exposed prosthetic hip implant with a local fasciocutaneous flap in a patient in which any other kind of reconstruction was not feasible. Discussion Fasciocutaneous flaps can be considered as an easily performed and minimally invasive surgical procedure, particularly reliable even in patients in poor general conditions, with preservation of future flap options.

Highlights • Skin Cancer. • Colorectal Cancer. • Cutaneous Metastases. • Fasciocutaneous Flaps., Introduction Metastases represent one of the most outstanding characteristics of malignant neoplasms and are relatively rare in the skin, in spite of the great extension of the cutaneous organs. Development of cutaneous metastases from colon cancer is a rare event, usually occurring in widely disseminated disease and commonly leading to a poor prognosis. As to location, cutaneous metastases often favor areas close to the primary malignancy, such as lung cancer and skin metastases on the trunk. However, remote sites as the scalp may be also involved. Case presentation We present the case of a 92-year-old female patient with a massive single nodular skin lesion on her left supraclavicular area, that came back positive for cutaneous metastasis of colon adenocarcinoma. Discussion Cutaneous metastasis of colorectal cancer a rare event (2.3%–6%) that usually occur two years after the detection or resection of the primary tumor. It seldom occurs before the identification of the primary tumor and involvement of secondary organs, such as the liver. There are few cases reported with only cutaneous metastases. Conclusion In conclusion, dermatological evaluation of patients who are undergoing screening or who have already been diagnosed with cancer is extremely important.

The accurate stratification of infants with congenital cytomegalovirus (CMV) infection at risk for more severe outcome may help in the management of patients. Aim of this study was to investigate the ability of a comprehensive neuroimaging investigation in predicting the long-term neurodevelopmental outcome in patients with congenital CMV. We analyzed the prognostic accuracy of a traditional score and a recently proposed scale applied to head ultrasound (HUS), computed tomography (CT) and magnetic resonance imaging (MRI).All consecutive neonates born from 2002 to 2015 with congenital CMV infection were considered eligible for the study. Neuroimaging findings were scored according to both scores.One hundred seventy infants were included (112 symptomatic patients). One-hundred eighteen infants received both HUS, CT and MRI. CT and MRI were normal in all 56 asymptomatic patients, while 32% of them presented an abnormal HUS. The prevalence of abnormal findings differed according to the neuroimaging study. The sensitivity of the new neuroimaging score in detecting patients at risk for poor neurologic outcome was higher than the traditional one for all neuroimaging examinations. CT and MRI showed higher positive predictive value compared with HUS. No neuroimaging examination showed a negative predictive value equal to 100%.Although HUS is the safest neuroimaging technique, it performs less well in detecting some brain abnormalities that can be associated with a poor neurodevelopmental outcome. A comprehensive neuroimaging evaluation is mandatory in infants with congenital CMV infection to decide for treatment and make a prognostic evaluation.

Background Natural history and long term prognosis of congenital cytomegalovirus (CMV) disease according to maternal primary versus non-primary infection are not clearly documented. Objective To investigate clinical, laboratory and neuroimaging features at onset and long term outcome of congenitally CMV-infected patients born to mothers with non-primary infection compared with a group of patients born to mothers with primary infection. Study design Consecutive neonates born from 2002 to 2015 were considered eligible for the study. Patients underwent clinical, laboratory and instrumental investigation, and audiologic and neurodevelopmental evaluation at diagnosis and during the follow up. Results A cohort of 158 congenitally infected children was analyzed. Ninety-three were born to mothers with primary CMV infection (Group 1) and 65 to mothers with a non-primary infection (Group 2). Eighty-eight infants had a symptomatic congenital CMV disease: 49 (46.2%) in Group 1 and 39 (60%) in Group 2. Maternal and demographic characteristics of patients of Group 1 and Group 2 were comparable, with the exception of prematurity and a 1-min Apgar score less than 7, which were more frequent in Group 2 compared to Group 1. Prevalence of neuroimaging findings did not significantly differ between the two groups. An impaired neurodevelopmental outcome was observed in 23.7% of patients of Group 1 and in 24.6% cases of Group 2. Similarly, the frequency of hearing loss did not differ between the two groups (25.8% versus 26.2%, respectively). Conclusions Neurodevelopmental and hearing sequelae are not affected by the type of maternal CMV infection. Preventing strategies should be developed for both primary and non-primary infections.

Lenticulostriated vasculopathy (LSV) detected in head ultrasound (HUS) has been related to neurological and hearing sequelae in infants with congenital cytomegalovirus (cCMV) infection.To assess the role of LSV in predicting neurodevelopmental and hearing outcomes in infants with cCMV infection.We enrolled consecutive infants who were affected by cCMV infection and underwent HUS within the first month of life. Data on clinical onset and course, laboratory findings, visual/hearing functions and neurodevelopmental outcome were collected. As controls, infants with suspected intrauterine exposure to Toxoplasma and with no confirmed congenital toxoplasmosis were considered.Data from 161 infants with cCMV infection (105 symptomatic) and 133 controls were analyzed. HUS was normal in 66 (41%) cCMV patients. Among these, 28 (42.4%) were symptomatic and 38 (57.6%) asymptomatic infants. The percentage of patients with no HUS abnormalities was higher in asymptomatic (38/56, 67.9%) than in symptomatic infants (28/105, 26.7%) (p0.05). LSV, as isolated or associated with other brain abnormalities, was diagnosed in 64/161 (39.7%) patients with cCMV compared to 24/133 (18%) controls (p0.05). In cCMV group, LSV was found in 51 (48.6%) symptomatic infants and in 13 (72.2%) asymptomatic patients (p0.05). Overall, in the whole population of 95 patients with cCMV and abnormal HUS results, LSV (alone or with other findings) did not represent a risk factor for unfavorable neurological and hearing outcome. Similar results were obtained when we limited the analysis to the group of symptomatic cCMV patients.Although LSV is a common HUS finding in infants with cCMV infection, its presence is not predictive of an adverse outcome. Our data suggest that HUS as a single neuroimaging investigation is unreliable in selecting candidates to antiviral therapy, mainly in presence of LSV as isolated finding.

Objective: Human cytomegalovirus (CMV) can be considered the most important agent of congenital infection. Long-term sequelae of congenital infection occur in about 15% of infants asymptomatic at birth. To avoid long-term sequelae or to reduce their burden, it is necessary to identify infected children for early interventions. CMV DNA can be detected in dried blood spots (DBSs). DBSs have been used in several studies for the retrospective diagnosis of congenital CMV (CCMV). It has been proposed to use DBSs for the newborn screening of CMV infection; however, manual methods are not suitable for newborn screening of CCMV. Methods: We evaluated in an off-label application the use of an automated instrument, the QIAsymphony SP/AS, in combination with the artus CMV QS-RGQ kit and the RotorGene Q real-time polymerase chain reaction system. Results: We analyzed 100 DBSs from newborns positive or negative for plasma CMV DNA with a 94% concordance in positive samples. Conclusions: We show that the QIAsymphony SP/AS and RotorGene Q workflow is suitable for CMV DNA extraction and detection from DBSs and that the system correctly identified newborns at risk of late sequelae due to CMV infection.