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1.
J Med Genet ; 60(7): 697-705, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36414255

RESUMEN

BACKGROUND: Spinal muscular atrophy (SMA) is due to the homozygous absence of SMN1 in around 97% of patients, independent of the severity (classically ranked into types I-III). The high genetic homogeneity, coupled with the excellent results of presymptomatic treatments of patients with each of the three disease-modifying therapies available, makes SMA one of the golden candidates to genetic newborn screening (NBS) (SMA-NBS). The implementation of SMA in NBS national programmes occurring in some countries is an arising new issue that the scientific community has to address. We report here the results of the first Italian SMA-NBS project and provide some proposals for updating the current molecular diagnostic scenario. METHODS: The screening test was performed by an in-house-developed qPCR assay, amplifying SMN1 and SMN2. Molecular prognosis was assessed on fresh blood samples. RESULTS: We found 15 patients/90885 newborns (incidence 1:6059) having the following SMN2 genotypes: 1 (one patient), 2 (eight patients), 2+c.859G>C variant (one patient), 3 (three patients), 4 (one patient) or 6 copies (one patient). Six patients (40%) showed signs suggestive of SMA at birth. We also discuss some unusual cases we found. CONCLUSION: The molecular diagnosis of SMA needs to adapt to the new era of the disease with specific guidelines and standard operating procedures. In detail, SMA diagnosis should be felt as a true medical urgency due to therapeutic implications; SMN2 copy assessment needs to be standardised; commercially available tests need to be improved for higher SMN2 copies determination; and the SMN2 splicing-modifier variants should be routinely tested in SMA-NBS.


Asunto(s)
Atrofia Muscular Espinal , Tamizaje Neonatal , Humanos , Recién Nacido , Proyectos Piloto , Tamizaje Neonatal/métodos , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Genotipo , Italia
2.
Neurosurg Rev ; 44(6): 3047-3057, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33608828

RESUMEN

Preoperative anxiety is a common reaction exhibited by up to 80% of patients who are scheduled for surgical procedures and characterized by psychological and physical changes which may affect their perioperative period. Our aim is to report the most up-to-date evidence on preoperative anxiety in brain surgery patients through a systematic analysis of the studies produced in the last decades. We performed a systematic review of literature by searching PubMed, Embase, and Cochrane Library databases. Data were extracted using the Population, Intervention, Comparison, Outcome framework and critically analyzed. PRISMA guidelines were applied, and the risk of bias of the included studies was assessed using the Risk of bias (RoB) 2 and ROBINS tools, as was the methodological quality, following GRADE criteria. We included 27 articles, accounting for 2558 patients in twelve different countries. The prevalence of preoperative anxiety ranged from 17 up to 89%, higher in female patients. Preoperative anxiety was associated with lower quality of life and cognitive performance, higher need for information, poorer memory and attention, longer hospitalization, depressive symptoms, and increase of physical disability; no correlation with survival rate was found. Seven randomized controlled trials attested the efficacy of acupuncture, music therapy, virtual reality, and pharmacological support in lowering anxiety levels. Preoperative anxiety is a common phenomenon that could negatively affect the perioperative period of brain surgery patients: this is something that should not be neglected to achieve better care through early prevention and optimal management.


Asunto(s)
Musicoterapia , Calidad de Vida , Ansiedad/epidemiología , Encéfalo , Femenino , Humanos
3.
Urol Int ; 93(4): 394-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24969358

RESUMEN

OBJECTIVE: To report our experience with the endourological treatment of renal matrix stones, an infrequent form of urinary calculi whose diagnosis and treatment are often difficult. METHODS: From 1990 to 2010 we treated 9 female patients with matrix calculi using the endourological approach; 4 presented with renal colics, 3 with symptomatic urinary tract infection and 2 with asymptomatic bacteriuria. Six patients underwent percutaneous lithotripsy and 3 retrograde intrarenal surgery as first-line therapy. Three cases needed a multidisciplinary approach. RESULTS: The six percutaneous procedures were successful after a single session, while the retrograde approach required multiple treatments; a single case needed a shock wave session to complete the fragmentation, in another one a percutaneous lithotripsy was necessary after the first procedure, and a third case needed multidisciplinary treatment. CONCLUSIONS: Percutaneous lithotripsy has been confirmed as the first option for matrix stones. The retrograde approach - by confirming the suspected diagnosis and being minimally invasive - may be employed to treat either lower-size stones or stones at high risk of recurrence.


Asunto(s)
Cálculos Renales/cirugía , Litotricia/métodos , Nefrostomía Percutánea/métodos , Adulto , Anciano , Preescolar , Femenino , Humanos , Cálculos Renales/química , Cálculos Renales/diagnóstico , Litotripsia por Láser , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
4.
Comp Immunol Microbiol Infect Dis ; 109: 102185, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38663213

RESUMEN

To evaluate the frequency of Acinetobacter spp., belonging to both Acinetobacter calcoaceticus-baumannii (ACB) and non-ACB complex, and their antibiotic resistance profiles in veterinary medicine, a three-year (2020-2022) retrospective study was carried out on sick companion animals. Epidemiological data from different clinical canine, feline, and equine samples, were acquired. For each strain, MALDI-TOF MS identification and susceptibility to a panel of 11 antibiotics, by Kirby-Bauer and E-test methods, were performed. Out of 628 bacteriological examinations, 2.5% resulted positive for strains belonging to Acinetobacter genus. Frequencies of 2.3%, 1.9%, and 3% were obtained from both in-visiting and hospitalized dogs, cats, and horses, respectively. Members of ACB-complex accounted for 50% of isolates. Since all strains resulted susceptible to aminoglycosides and polymyxins, no pandrug-resistant (PDR) species were recorded. While 12.5% A. baumannii resulted extensively-drug resistant (XDR), a higher percentage of multidrug-resistant strains was recorded among non-ACB strains (35.5%) than ACB strains (25%). Susceptibility was observed in the same percentage in both groups (62.5%). All ACB strains confirmed their intrinsic resistances. Non-ACB species showed lower resistances against antipseudomonal penicillins plus beta-lactamase inhibitors (P=0.1306), III generation cephalosporins (P=0.0547), and tetracyclines (P=0.0209) than ACB species. Carbapenem-resistance was observed for XDR A. baumannii (12.5%) and, in particular for MDR non-ACB complex members (25%). To our knowledge, A. lactucae represents the first description in two sick dogs in Italy. Furthermore, our results emphasize the role of non-ACB-complex species as important zoonotic pathogens, which could be reservoirs of clinically relevant resistance profiles.


Asunto(s)
Infecciones por Acinetobacter , Acinetobacter baumannii , Antibacterianos , Enfermedades de los Gatos , Enfermedades de los Perros , Farmacorresistencia Bacteriana Múltiple , Pruebas de Sensibilidad Microbiana , Animales , Estudios Retrospectivos , Perros , Gatos/microbiología , Infecciones por Acinetobacter/veterinaria , Infecciones por Acinetobacter/microbiología , Infecciones por Acinetobacter/epidemiología , Infecciones por Acinetobacter/tratamiento farmacológico , Caballos/microbiología , Antibacterianos/farmacología , Acinetobacter baumannii/efectos de los fármacos , Acinetobacter baumannii/genética , Enfermedades de los Perros/microbiología , Enfermedades de los Perros/tratamiento farmacológico , Enfermedades de los Gatos/microbiología , Enfermedades de los Gatos/tratamiento farmacológico , Mascotas/microbiología , Acinetobacter calcoaceticus/efectos de los fármacos , Acinetobacter calcoaceticus/genética , Enfermedades de los Caballos/microbiología , Enfermedades de los Caballos/tratamiento farmacológico
5.
Front Physiol ; 14: 1070474, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37008002

RESUMEN

Introduction: Developing techniques for the tagless isolation of homogeneous cell populations in physiological-like conditions is of great interest in medical research. A particular case is Gravitational Field-Flow Fractionation (GrFFF), which can be run avoiding cell fixation, and that was already used to separate viable cells. Cell dimensions have a key role in this process. However, their dimensions under physiological-like conditions are not easily known since the most diffused measurement techniques are performed on fixed cells, and the fixation used to preserve tissues can alter the cell size. This work aims to obtain and compare cell size data under physiological-like conditions and in the presence of a fixative. Methods: We developed a new protocol that allows the analysis of blood cells in different conditions. Then, we applied it to obtain a dataset of human cord blood cell dimensions from 32 subjects, comparing two tubes with anticoagulants (EDTA and Citrate) and two tubes with different preservatives (CellRescue and CellSave). We analyzed a total of 2071 cells by using confocal microscopy via bio-imaging to assess dimensions (cellular and nuclear) and morphology. Results: Cell diameter measured does not differ when using the different anticoagulants, except for the increase reported for monocyte in the presence of citrate. Instead, cell dimensions differ when comparing anticoagulants and cell preservative tubes, with a few exceptions. Cells characterized by high cytoplasm content show a reduction in their size, while morphology appears always preserved. In a subgroup of cells, 3D reconstruction was performed. Cell and nucleus volumes were estimated using different methods (specific 3D tool or reconstruction from 2D projection). Discussion: We found that some cell types benefit from a complete 3D analysis because they contain non-spherical structures (mainly for cells characterized by poly-lobated nucleus). Overall, we showed the effect of the preservatives mixture on cell dimensions. Such an effect must be considered when dealing with problems highly dependent on cell size, such as GrFFF. Additionally, such information is crucial in computational models increasingly being employed to simulate biological events.

6.
Early Hum Dev ; 90 Suppl 1: S48-50, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24709459

RESUMEN

The onset of an infectious complication in an infant leads to an increase in costs for the health of the newborn, psychological costs for the family, and economic costs for the hospital. Several studies have demonstrated that hospital infections are preventable in part: the adoption of "safe" care practices in fact involves the reduction of 35%. Essential principals for the prevention of nosocomial infections are: a particular attention to the care of the skin, of the umbilical stump and of the newborn's eyes, as well as of the tools for every-day use; the implementation of correct behaviors during washing of the hands; prevention of the spread of respiratory viruses; the environmental control; training courses for healthcare personnel and for infant's families.


Asunto(s)
Infección Hospitalaria/prevención & control , Cuidado del Lactante/normas , Humanos , Cuidado del Lactante/métodos , Recién Nacido
7.
Urologia ; 80(2): 162-4, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23423678

RESUMEN

A 34-year-old man affected by grade IV idiopathic varicocele with mild testicolar pain, severe oligoasthenozoospermia and infertility, underwent an antegrade sclerotherapy according to Tauber surgical technique. After 5 days, the patient underwent a laparoscopic left colon resection with colonstomy due to a segmental infarction of the sigmoid colon.


Asunto(s)
Colon Sigmoide/irrigación sanguínea , Colon Sigmoide/patología , Isquemia/etiología , Escleroterapia/efectos adversos , Varicocele/terapia , Adulto , Humanos , Masculino , Necrosis/etiología , Escleroterapia/métodos
8.
Urologia ; 77(3): 155-9, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-20931544

RESUMEN

Radical prostatectomy (RP) represents the most frequently chosen therapeutic option for treating newly diagnosed localized prostate cancer. Cancer recurrence after surgery is linked to biologic variables. But are these the only ones that must be considered to give an explanation of a possible local or distal recurrence, or can it also admit the possibility that an incorrectly conducted surgery has a negative role in the unfavorable evolution after PR? Prostate cancer recurrence, as a matter of fact, is related also to surgical technique. The PR, by definition is a surgical, potentially complicated act. Surgery outcomes depend on a whole series of factors: the surgeon's ability, and the way the surgical procedure is conducted, play an essential role. Here we evaluate the role of biological and surgical factors on biochemical recurrence.


Asunto(s)
Recurrencia Local de Neoplasia , Prostatectomía , Neoplasias de la Próstata/cirugía , Humanos , Responsabilidad Legal , Masculino , Recurrencia Local de Neoplasia/etiología , Prostatectomía/métodos , Insuficiencia del Tratamiento , Urología
9.
Urologia ; 77(4): 223-31, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-21234864

RESUMEN

OBJECTIVES: The computerized tomography with perfusion technique (pCT) has proved to have some potentialities in the oncologic field as a possible tool to identify neoangiogenesis in vivo. The purpose of the present job is to test the correlations existing between perfusion data and pathologic features in the evaluation of vascularization in kidney cancer. METHODS: 6 patients with clinical diagnosis of renal tumor awaiting surgical treatment underwent preoperatively pCT scans. Axial images encompassing the greatest diameter of the cancer were compared with the respective histological sections. RESULTS: A correlation between tumor histological subtype and perfusion index was observed and shown. Moreover, clear cell RCC of different Fuhrman grades showed statistically significant differences in perfusion values (T test). Specifically, high perfusion indexes were associated with high density of microvessels with abnormal architecture at the microscopic evaluation of tumor specimen. Conversely, lower perfusion index were detected in tumors with lower microvascular density. CONCLUSIONS: pCT scans can provide significant data on tumor angiogenesis and, eventually, suggest tumor histological subtype. The possibility of identifying preoperatively tumor histotype can be of particular relevance in patients with small renal tumors, suitable for minimally-invasive surgery or active surveillance program.


Asunto(s)
Carcinoma de Células Renales/diagnóstico por imagen , Neoplasias Renales/diagnóstico por imagen , Imagen de Perfusión , Tomografía Computarizada por Rayos X/métodos , Adenoma Oxifílico/irrigación sanguínea , Adenoma Oxifílico/diagnóstico por imagen , Adenoma Oxifílico/patología , Adulto , Anciano , Carcinoma de Células Renales/irrigación sanguínea , Carcinoma de Células Renales/patología , Estudios de Factibilidad , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Neoplasias Renales/irrigación sanguínea , Neoplasias Renales/patología , Masculino , Microcirculación , Persona de Mediana Edad , Selección de Paciente , Circulación Renal
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