Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.

BACKGROUND AND PURPOSE: The aim was to investigate whether neurofilament light chain (NfL) and profilin-1 (PFN-1) might qualify as surrogate disease and treatment-response biomarkers by correlating their concentrations dynamic with clinical status in a cohort of 30 adult spinal muscular atrophy type 3 patients during nusinersen therapy up to 34 months. METHODS: Neurofilament light chain was measured in cerebrospinal fluid at each drug administration with a commercial enzyme-linked immunosorbent assay (ELISA); PFN-1 concentrations were tested in serum sampled at the same time points with commercial ELISA assays. Functional motor scores were evaluated at baseline, at the end of the loading phase and at each maintenance dose and correlated to biomarker levels. The concurrent effect of age and clinical phenotype was studied. RESULTS: Neurofilament light chain levels were included in the reference ranges at baseline; a significant increase was measured during loading phase until 1 month. PFN-1 was higher at baseline than in controls and then decreased during therapy until reaching control levels. Age had an effect on NfL but not on PFN-1. NfL was partially correlated to functional scores at baseline and at last time point, whilst no correlation was found for PFN-1. CONCLUSION: Cerebrospinal fluid NfL levels did not qualify as an optimal surrogate treatment biomarker in adult spinal muscular atrophy patients with a long disease duration, whilst PFN-1 might to a greater extent represent lower motor neuron pathological processes. The observed biomarker level variation during the first 2 months of nusinersen treatment might suggest a limited effect on axonal remodeling or rearrangement.

Occupational health and psychological wellbeing in first line nurses during health crisis periods: reliability study of the SOIC tool.

Background: In 2020, the emergence of the new Coronavirus has put health professionals under enormous pressure, as they had to work in difficult and often disadvantaged situations. Prevention of symptoms such as stress, anxiety and burnout therefore become important health management goals. Aim: The aim of this pilot cross-sectional study was to assess the reliability and feasibility of a tool on Occupational Health Nurses after a Pandemic Period such as the COVID-19 pandemic (Salute Oc-cupazionale negli Infermieri in Periodo Pandemico Covid19 - SOIC) that aims to assess the occupational health and psychological wellbeing of nurses during periods of health crisis. Methods: This study was conducted from September to November 2022. The SOIC tool is composed by two preliminary sections and a third part including five validated questionnaires (measuring burnout, work engagement, psychological symptoms, resilience, and mindful awareness). An opportunistic sample of 202 nurses working in a Teaching Hospital of Rome and members of NurSind union were invited to participate: of these, 24 nurses completed the SOIC in two subsequent occasions (T1 and T2). Results: The test-retest assessment showed no differences between the two waves (T1 and T2) in terms of median scores for all questionnaires included in the SOIC tool. The Cronbach alphas, considering all items of each questionnaire included in the SOIC tool, showed good or excellent internal consistencies. Conclusion: The test-retest assessments and the reliability analyses encouraged the usability of the SOIC tool. Furthermore, consistent associations between the five questionnaires were obtained.

Effects of titanium surface topography on morphology and in vitro activity of human gingival fibroblasts.

AIM: The aim of the present study was to evaluate in vitro the biological behavior of human gingival fibroblasts cultured on two different titanium surfaces. METHODS: Titanium test disks were prepared with a machined, relatively smooth (S) surface or a rough surface (O) obtained by a double acid etching procedure. Primary cultures of human gingival fibroblasts were plated on the experimental titanium disks and cultured up to 14 days. Titanium disk surfaces were analysed by scanning electron microscopy (SEM). Cell proliferation and a quantitative analysis by ELISA in situ of ECM components as CoI, FN and TN were performed. RESULTS: Results have shown different effects of titanium surface microtopography on cell expression and differentiation. At 96 hours of culture on experimental surfaces human gingival fibroblasts displayed a favourable cell attachment and proliferation on both surfaces although showing some differences. CONCLUSION: Both the relatively smooth and the etched surfaces interacted actively with in vitro cultures of human gingival fibroblasts, promoting cell proliferation and differentiation. Results suggested that the microtopography of a double acid-etched rough surface may induce a greater Co I and FN production, thus conditioning in vivo the biological behaviour of human gingival fibroblasts during the process of peri-implant soft tissue healing.

Environmental pollution effects on reproductive health - clinical-epidemiological study in southern Italy.

UNLABELLED: This study aims to address the clinical, statistical and Epidemiological Relationship Between Birth Defects and Environmental Pollution, in the Campania Region and in Salerno. OBJECTIVES: WE EXAMINED FOUR GROUPS OF SUBJECTS AS FOLLOWS: a sample of pregnant women living in Salerno, a sample of pregnant women living in highly polluted areas, a sample of controls, pregnant women and residents out of the Campania Region, considered in unpolluted areas (Foggia) and in the Salerno area. METHODOLOGIES: a toxicological and genetic analysis was conducted on patients examined. CONCLUSIONS: there is an epidemiological link between environmental pollution and reproductive health in the Salerno area. Experimentally there are the first evidences of endocrine disruptors by the PCB. It has been inferred an overexpression of the mir-191 as a marker of pollution by dioxin-like compounds. Socially, correct information of populations at risk is necessary and a possible preventive and ongoing medical care must be ensured.

In vitro expression of osteoblastic phenotype on titanium surfaces.

AIM: Differentiation toward the osteoblastic phenotype is a complex phenomenon regulated by means of several factors. Numerous studies in vitro et in vivo showed that surface properties of titanium dental implants modulate cell proliferation and osteoblastic differentiation, affecting bone healing processes. Optimal superficial morphology is still controversial. The aim of the present study was to evaluate in vitro the effects of two different titanium surfaces on biological behaviour of human osteoblast-like cells SaOS-2 with regard to production of extra-cellular matrix (ECM) proteins. METHODS: Human osteoblast-like cells SaOS-2, cultured on commercially pure titanium disks with two different surface topographies, smooth and microstructured with sand-blasting and acid-etching treatment, were evaluated by investigating adhesion, proliferation and deposition of extra-cellular matrix (ECM) proteins Fibronectin, Tenascin and Collagen I. RESULTS: The different values of cellular adhesion at three hours and the increase of SaOS-2 proliferation values at the different experimental times on both evaluated surfaces didn't result statistically significant. ECM deposition analysis showed that Fibronectin, Tenascin and Collagen I were gradually produced, with not statistically significant differences for Fibrone-ctin and Tenascin and statistically significant differences for Collagen I. CONCLUSION: Implant surface properties modulate in vitro the biological behavior of osteoblasts-like cells SaOS-2. SaOS-2 cells proliferate on both evaluated surfaces, showing a more organized differentiation towards an osteoblastic phenotype in ECM proteins production when cultured on microstructured surface.

Peri-implant tissue healing in implant placed in post-extraction sockets of maxillary premolars.

AIM: The aim of this study was the clinical and radiographic evaluation of peri-implant tissues healing associated with two-stage implants performed with one-stage surgery and placed into post-extraction sockets of maxillary premolars. METHODS: Ten natural tapered submerged titanium implants with double acid-etched surface were installed in post-extraction sockets of maxillary premolars showing no bone dehiscence or fenestrations. Implants were selected according to the greatest dimension compatible to vertical and horizontal diameters of the post-extraction sockets. Peri-implant defects showing more than 2 mm of distance between the marginal palatal bone and the implant margin, were not treated with a regenerative procedure but with a bone swaging technique by means of piezoelectric surgery. At 16 weeks osteointegration of implants was examined with a clinical and standardized radiographic evaluation. RESULTS: All patients showed good clinical healing without any complication. At 16 weeks all implants, either those with reduced marginal defect or those with modified crestal bone profile, were osteointegrated. CONCLUSIONS: The use of two-stage implants performed with one-stage surgery in 4 walls post-extraction sockets of maxillary premolars, seems to allow osteointegration both in reduced peri-implant horizontal defects as well as in defects larger than 2 mm. Furthermore, these procedures seem to simplify the management of soft peri-implant tissues.

[Evaluation of oocyte maturity in patients undergoing ICSI and R-FSH treatment]. / La valutazione della maturazione ovacitaria in pazienti sottoposte ad ICSI e trattate con R-FSH.

BACKGROUND: This study compares embryo quality, fertilisation rate and pregnancy rates after ICSI related with the quality of oocytes achieved after r-FSH stimulation. METHODS: We evaluated 955 oocytes from patients following r-FSH and 643 oocytes from patients stimulated with ultrapure urinary FSH. The oocytes were divided into: a) normal oocytes; b) ooctyes with extra cytoplasmatic abnormalities (dark zona pellucida, wide perivitelline space); c) oocytes with cytoplasmatic abnormalities (dark cytoplasm, granular cytoplasm, retractile body), d) oocytes with shape abnormalities; e) oocytes with double abnormalities; f) oocytes with triple abnormalities. The embryos were divided into: A) even and homogeneous blastomeres without fragmentation; B) even and homogeneous blastomeres with <20% fragmentation; C) uneven and non-homogeneous blastomeres with 20-50% fragmentation; D) uneven and non homogeneous blastomere with >50% fragmentation. RESULTS: 40.9% of oocytes from patients treated with r-FSH have a normal morphology vs 35.2% of control groups (p<0.04). Abnormalities have a similar frequency in the two groups, except for the presence of three combined abnormalities (7.7 vs 5.4%; p<0.04). Fertilisation rate, cleavage rate, oocyte quality and pregnancy rate do not appear to be influenced by oocyte morphology and the type of FSH used for stimulation. CONCLUSIONS: The administration of r-FSH allows a large number of oocytes to be rescued, with a high incidence of normal morphology. The fertilisation rate and the quality of embryos obtained from oocytes with structural abnormalities are similar to those observed in morphologically normal oocytes. Even the probability of pregnancy is similar in the two groups.

Localized (solitary) fibrous tumors of the pleura: an analysis of 55 patients.

BACKGROUND: Localized (solitary) fibrous tumors (LFTPs) of the pleura are rare, slow-growing neoplasms thought to originate from submesothelial connective tissue. The aim of this article is to present 55 new cases of LFTP, and to discuss the treatment of choice and the clinical behavior of such neoplasms. METHODS: From July 1990 to November 1999, 55 patients (32 male, 23 female) with an LFTP were surgically treated at our Institution. Neoplasms were considered to be malignant if one or more of the following histologic features were present: high cellularity with crowding and overlapping of nuclei; high mitotic activity; or mild, moderate, or marked pleomorphism. RESULTS: No operative mortality was reported. Forty-eight of the cases arose from the visceral pleura and seven arose from the parietal pleura. A local removal of the neoplasm with free surgical margins was accomplished by video-assisted thoracic surgery in 39 patients and by standard thoracotomy in 10 patients. Four patients underwent formal lung resections, 1 had thymectomy, and 1 had en bloc chest wall resection. Four malignant variants were identified. One patient developed local recurrence and underwent redo surgery with chest wall resection. One patient died of unrelated disease. The remaining patients are alive and disease free at a median follow-up of 53.2 months. CONCLUSIONS: LFTPs show a benign outcome in most of the cases. Video-assisted thoracic surgery, with intraoperative assessment of the surgical margins, represents the treatment of choice.

Desmopressin and imipramine in the management of nocturnal enuresis: a multicentre study.

The efficacy and safety of desmopressin (Minirin/DDAVP) treatment compared with imipramine were investigated in a multicentre, open, cross-over design in 57 patients, aged 6-15 years, affected by nocturnal enuresis to establish the best therapeutic approach to this condition. After a two-weeks observation and control period, patients were randomised to one of two groups: intranasal administration of desmopressin, 30 micrograms/day for three weeks, followed by imipramine, 0.9 mg/kg for a further three weeks, or imipramine 0.9 mg/kg for three weeks, followed by desmopressin, 30 micrograms/day for a further three weeks. Following treatment, all patients were observed for a further two weeks. Administration of either treatment protocol resulted in a statistically significant decline in the number of enuretic episodes per week compared to the control. The greater antidiuretic effect observed in the group receiving imipramine followed by desmopressin suggests the two compounds have different profiles. Also, when the treatment period was compared with the follow-up, the antidiuretic effect had a longer duration in the group initially given imipramine. No further improvement was seen when desmopressin was administered first, with a mild worsening of the effect sometimes occurring, suggesting a different carry-over effect between the two treatments. This suggests that desmopressin offers a better approach to the management of nocturnal enuresis.

[Gastric carcinoid. A clinical case and review of the literature]. / Carcinoide gastrico. Caso clinico e revisione della letteratura.

INTRODUCTION: Endoscopic examination of the gastrointestinal tract is very useful, because it allows a rapid diagnosis and, in some cases, a therapeutical effect. CLINICAL CASE: The authors have seen a woman, 72 years old, with epigastric pain, dryness of the mouth, diarrhoea and meteorism. She had an old simple gastritis (of two years standing) and her therapy, since the time of the diagnosis, is omeprazole (20 mg/die). The patient was submitted to gastroscopic examination that revealed two spot lesions and a polypous lesion on which was made a biopsy. The patient was submitted also to the following examination: 1) urinary dosage of 5 HIAA; 2) urinary dosage of 5 OHT; 3) Computed tomography of the abdomen; 4) Heart echography; 5) Endoscopy of the colon; 6) Endoscopy of the bronchus. DISCUSSION: Carcinoid tumors are usually small and rare lesions and they are in the following sites: A) between mouth and the second part of duodenum; B) between the second part of the duodenum and the transverse segment of the colon; C) between the latter and the anus. CLINICAL PICTURE: Patients are usually 50-60 years old, with other neoplasm. The picture is marked by flushing, diarrhoea, abdominal cramp and disease of the right heart valve. DIAGNOSIS: Diagnosis is based on urinary dosage of 5-HIAA (n.v. > 10 mg/24 h.) that is higher than the normal value. Computed tomography and echography are useful. THERAPY: The small neoplasm are treated by local surgical resection, while the biggest tumors have been treated by pharmacological therapy with useless results.

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation.

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.

[Intrathoracic meningocele. A case report and review of the literature]. / Il meningocele intratoracico. Descrizione di un caso e revisione della letteratura.

In this article the Authors describe a case of intrathoracic meningocele. That was diagnosed in a young asymptomatic woman after surgical resection. After a complete and accurate review of the literature, the Authors underline the rarity of the find while they also note the association of this pathology with Von Recklinghausen's neurofibromatosis. They also discuss etiology and clinical diagnostic aspects as well. In conclusion the Authors insist that with new diagnostic imaging techniques available today it is possible to accurately diagnose this disease preoperatively in most patients. This fact along with improved therapeutic regimens makes surgical excision almost free from the complications that were at one time observed.

Transplantation of irradiated heterotopic segmental human pancreas.

The results of three irradiated segmental pancreatic autotransplantations in patients with cancer of the pancreatic head are presented. The grafts with ligated ducts were irradiated with 5000 or 2000 rad. Following irradiation, the pancreatic tails that were tumor-free at the section line were autotransplanted by anastomosing the splenic vessels to the common femoral vessels. The first graft (5000 rad) that was necrotic, was removed on the 15th postoperative day and the patient was placed on insulin therapy. The second and third patient (2000 rad) are both alive with functioning grafts without exocrine secretion and with normal carbohydrate metabolism, 7 months and 1 month after transplantation, respectively. Technically, irradiated pancreas transplantation is a feasible procedure, which could be applicable to patients with cancer of the pancreatic head to avoid secondary complications of diabetes after total pancreatectomy, and to patients with juvenile or chronic pancreatitis. It is possible that high-dose irradiation can completely destroy eventual multicenter tumor foci in the pancreatic tail.

Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.