Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended

Microsurgical Disconnection of Ruptured Intracranial Pial Arteriovenous Fistula Guided by Indocyanine Green Videoangiography.

Intracranial arteriovenous fistulas, rare causes of spontaneous intracerebral bleeding, are direct communications between an arterial feeder and an arterialized vein that drains a normal brain. Arteriovenous disconnection is the only effective treatment for this type of vascular malformation, which is often reached microsurgically due to the difficult endovascular access. Intraoperative indocyanine green videoangiography (ICG-VA) is a valuable help in identifying the arterialized draining vein and its direct communication with the arterial feeder and in confirming real-time interruption of the fistula. We describe the case of a 46-year-old man presenting with sudden onset of headache and left arm motor and sensory deficits associated with a frontoparietal hematoma evacuated 1 week earlier in another institution. Digital subtraction angiography showed a direct communication between an anterior parietal branch of the right middle cerebral artery and a parietal vein. Given the difficulty to reach the point of the fistula endovascularly because of the small caliber and tortuosity of the arterial feeder, as well as the short and relatively rapid flow through the arteriovenous communication, we decided to proceed with microsurgical treatment. Under intraoperative neurophysiologic monitoring the fistula was located with the aid of ICG-VA and interrupted (Video 1). Both control ICG-VA and postoperative angiogram confirmed resolution of the fistula. At a 3-month follow-up the patient had a complete neurologic recovery

Acoustic Nature of the Boson Peak in Vitreous Silica

New temperature dependent inelastic x-ray (IXS) and Raman (RS) scattering data are compared to each other and with existing inelastic neutron scattering data in vitreous silica (v-SiO_2), in the 300 - 1775 K region. The IXS data show collective propagating excitations up to Q=3.5 nm^-1. The temperature behaviour of the excitations at Q=1.6 nm^-1 matches that of the boson peak found in INS and RS. This supports the acoustic origin of the excess of vibrational states giving rise to the boson peak in this glass.Comment: 10 pages and 4 figure

Acute effects of three different stretching protocols on the Wingate test performance

The purpose of this study was to examine the acute effects of different stretching exercises on the performance of the traditional Wingate test (WT). Fifteen male participants performed five WT; one for familiarization (FT), and the remaining four after no stretching (NS), static stretching (SS), dynamic stretching (DS), and proprioceptive neuromuscular facilitation (PNF). Stretches were targeted for the hamstrings, quadriceps, and calf muscles. Peak power (PP), mean power (MP), and the time to reach PP (TP) were calculated. The MP was significantly lower when comparing the DS (7.7 ± 0.9 W/kg) to the PNF (7.3 ± 0.9 W/kg) condition (p \u3c 0.05). For PP, significant differences were observed between more comparisons, with PNF stretching providing the lowest result. A consistent increase of TP was observed after all stretching exercises when compared to NS. The results suggest the type of stretching, or no stretching, should be considered by those who seek higher performance and practice sports that use maximal anaerobic power

Post-graduate medical education in public health: The case of Italy and a call for action

Public health technical expertise is of crucial importance to inform decision makers\u2019 action in the field of health and its broader determinants. Improving education and training of public health professionals for both practice and research is the starting point to strengthen the role of public health so that current health challenges can be efficiently tackled. At the Association of Schools of Public Health in the European Region (ASPHER) Deans\u2019 & Directors\u2019 2017 Annual Retreat, we presented the structure and management of public health training system in Italy, and we reported recent data on Italian public health specialists\u2019 educational experience, employment opportunities and job satisfaction. Public health training in Italy is implemented in the context of the post-graduate medical education residency programme in Hygiene and Preventive Medicine, delivered by 34 University-based Schools of Public Health. We report relatively high employment rates across the county and wide spectrum of career opportunities for young public health specialists. However, job security is low and training expectations only partially met. We call upon other Schools of Public Health to scale up the survey within the broad ASPHER community in a shared and coordinated action of systematically collecting useful data that can inform the development of public health education and training models, their implementation and fruitful interaction with population health, health systems and services

The first 110,593 COVID-19 patients hospitalised in Lombardy: a regionwide analysis of case characteristics, risk factors and clinical outcomes

Objectives: To describe the monthly distribution of COVID-19 hospitalisations, deaths and case-fatality rates (CFR) in Lombardy (Italy) throughout 2020. Methods: We analysed de-identified hospitalisation data comprising all COVID-19-related admissions from 1 February 2020 to 31 December 2020. The overall survival (OS) from time of first hospitalisation was estimated using the Kaplan-Meier method. We estimated monthly CFRs and performed Cox regression models to measure the effects of potential predictors on OS. Results: Hospitalisation and death peaks occurred in March and November 2020. Patients aged ≥70 years had an up to 180 times higher risk of dying compared to younger patients [70–80: HR 58.10 (39.14–86.22); 80–90: 106.68 (71.01–160.27); ≥90: 180.96 (118.80–275.64)]. Risk of death was higher in patients with one or more comorbidities [1: HR 1.27 (95% CI 1.20–1.35); 2: 1.44 (1.33–1.55); ≥3: 1.73 (1.58–1.90)] and in those with specific conditions (hypertension, diabetes). Conclusion: Our data sheds light on the Italian pandemic scenario, uncovering mechanisms and gaps at regional health system level and, on a larger scale, adding to the body of knowledge needed to inform effective health service planning, delivery, and preparedness in times of crisis

A rare case of posterior fossa tumor and central precocious puberty: Case presentation and review of the literature

Central precocious puberty (CPP) is a condition that causes early gonadotropin-dependent sexual development; CPP is idiopathic in girls in most cases, whereas more than 50% of boys have an identifiable etiology. We conducted a qualitative systematic review following the ENTREQ (enhancing transparency in reporting the synthesis of qualitative research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms “precocious puberty” AND “brain tumor” OR “posterior fossa tumor” OR “cerebellar tumor” OR “infratentorial tumor”, iden-tifying five cases of pediatric patients with infratentorial tumors and CPP and a case of cerebellar ganglioglioma without hypothalamic−pituitary−gonadal axis involvement and/or intracranial hypertension. Our work highlights the importance of a multidisciplinary approach and extensive central nervous system imaging for patients presenting with CPP in order to detect possible tumor association. Moreover, we believe that this manuscript could contribute to stimulate other research because the exact mechanism of CPP in infratentorial brain lesions has not been understood yet

Raman scattering from fractals. Simulation on large structures by the method of moments

We have employed the method of spectral moments to study the density of vibrational states and the Raman coupling coefficient of large 2- and 3- dimensional percolators at threshold and at higher concentration. We first discuss the over-and under-flow problems of the procedure which arise when -like in the present case- it is necessary to calculate a few thousand moments. Then we report on the numerical results; these show that different scattering mechanisms, all {\it a priori} equally probable in real systems, produce largely different coupling coefficients with different frequency dependence. Our results are compared with existing scaling theories of Raman scattering. The situation that emerges is complex; on the one hand, there is indication that the existing theory is not satisfactory; on the other hand, the simulations above threshold show that in this case the coupling coefficients have very little resemblance, if any, with the same quantities at threshold.Comment: 26 pages, RevTex, 8 figures available on reques

Alteration of the translational readthrough isoform AQP4ex induces redistribution and downregulation of AQP4 in human glioblastoma

Glioblastoma multiforme (GBM) is characterized by a remarkable cellular and molecular heterogeneity that make the behavior of this tumor highly variable and resistant to therapy. In addition, the most serious clinical complication of GBM and other brain tumors is the development of vasogenic edema which dramatically increase the intracranial pressure. In the present study we evaluate the expression, supramolecular organization and spatial distribution of AQP4 and AQP4ex, the new readthrough isoform of AQP4, in relationship with the degree of vasogenic brain edema and tumor progression. To this purpose, tissue samples from regions of tumor core, peritumoral and non-infiltrated tissues of each GBM patient (n = 31) were analyzed. Immunofluorescence experiments revealed that the expression of AQP4ex was almost absent in tumoral regions while the canonical AQP4 isoforms appear mostly delocalized. In peritumoral tissues, AQP4 expression was found altered in those perivascular astrocyte processes where AQP4ex appeared reduced and partially delocalized. Protein expression levels measured by immunoblot showed that global AQP4 was reduced mainly in the tumor core. Notably, the relative amount of AQP4ex was more severely reduced starting from the peritumoral region. BN-PAGE experiments showed that the supramolecular organization of AQP4 is only partially affected in GBM. Edema assessment by magnetic resonance imaging revealed that the level of AQP4ex downregulation correlated with edema severity. Finally, the degree of BBB alteration, measured with sodium fluorescein content in GBM biopsies, correlated with the edema index and AQP4ex downregulation. Altogether these data suggest that the AQP4ex isoform is critical in the triggering event of progressive downregulation and mislocalization of AQP4 in GBM, which may affect the integrity of the BBB and contributes to accumulation of edema in the peritumoral tissue. Thus, AQP4ex could be considered as a potential early biomarker of GBM progression