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1.
Chiara Leoni Elizabeth Katherine Anna Triumbari Catello Vollono Roberta Onesimo Maria Podagrosi Valentina Giorgio Eliza Kuczynska Stefania Veltri Marco Tartaglia Giuseppe Zampino 《American journal of medical genetics. Part A》2019,179(6):940-947
Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio‐facio‐cutaneous syndrome (N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r‐FLACC, Wang‐Baker scale, NPSI, BPI, NCCPC‐R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs‐QL, SF‐36) and sleeping patterns (SDSC); revision of past medical history and multisystemic evaluation was provided. Available clinical data were correlated to the presence of pain. High prevalence of acute (44%) and chronic (61%) pain was documented in the examined sample. Due to age and intellectual disability, acute pain was localized in 18/35 individuals and chronic pain in 33/49. Muscle‐skeletal and abdominal pain was more frequently reported. The intensity of acute and chronic pain interfered with daily activities in 1/3 of the sample. Pain negatively impacted on QoL and sleeping patterns. This work documents that pain is highly prevalent in RASopathies. Future studies including subjective and objective measures of pain are required to discriminate a somatosensory abnormality from an abnormal elaboration of painful stimuli at a central level. 相似文献
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Catello Orazzo Vincent A. Pieribone Sandra Ceccatelli Lars Terenius Tomas Hkfelt 《Brain research》1993,600(1)
Using the indirect immunofluorescence technique and double labelling procedures combined awith retrograde tracing it could be demonstrated that the A11 dopamine cell group, located at the border between the diencephalon and mesencephalon of the rat brain and some of which project to the spinal cord, contains calcitonin gene-related peptide (CGRP)-like immunoreactivity. Thus, another catecholamine group in the rat brain has been shown to have a coexisting peptide. One of the CGRP antisera used in the present study also stained cholecystokinin (CCK) containing neurons in various brain areas. Absorption and displacement experiments using immunohistochemistry and radioimmunoassay showed that this cross-reactivity was confined to the C-terminal portion of the peptide molecule. Therefore, the present results suggest that CGRP antisera used for immunohistochemistry and radioimmunoassay should be tested for possible cross-reactivity with CCK. 相似文献
4.
Leonardo Pace Lucio Catalano AnnaMaria Pinto Amalia De Renzo Francesca Di Gennaro Catello Califano Silvana Del Vecchio Bruno Rotoli Marco Salvatore 《European journal of nuclear medicine and molecular imaging》1998,25(7):714-720
Technetium-99m 2-methoxyisobutylisonitrile (99mTc-MIBI) has been proposed as a potential tracer in patients with multiple myeloma (MM). The aims of this study were to evaluate
the incidence of various patterns of diffuse 99mTc-MIBI uptake in patients with MM, to assess their relationship with clinical status and stage of disease, and to try to
clarify the meaning of the diffuse bone marrow uptake of 99mTc-MIBI. Thirty-nine consecutive patients with MM were studied. Twenty-nine of these patients had active disease (13 in stage
I, ten in stage II, and six in stage III) and ten were in remission after chemotherapy. Anterior and posterior whole-body
scans were obtained 10 min after i.v. injection of 555 MBq of 99mTc-MIBI. The scans were classified as showing: pattern N, when only physiological uptake was present; pattern D, when diffuse
bone marrow uptake was observed; pattern F, when areas of focal uptake of the radiotracer were evident; or pattern D+F, when
both D and F patterns were observed. Diffuse bone marrow uptake was scored according to extension and intensity. Seven of
the 39 patients (18%) showed pattern N, 18 (46%) pattern D, 2 (5%) pattern F, and 12 (31%) pattern D+F. Of the 32 patients
with a positive 99mTc-MIBI scan (i.e. showing pattern D, F or D+F), 29 (91%) had active disease. Only three patients in remission showed pattern
D, but with a very low bone marrow uptake score. Both extension and intensity of diffuse bone marrow uptake correlated with
the amount of the monoclonal component and the percentage of bone marrow plasma cells. The distribution of the 99mTc-MIBI uptake patterns differed among patients in different stages of disease. Using as criteria for advanced stage the presence
of either focal uptake (pattern F or D+F) or pattern D with a high score, high (90%) diagnostic accuracy was obtained. In
conclusion, the patterns of 99mTc-MIBI uptake in patients with MM are related to both the clinical status and the stage of disease. The presence of focal
uptake or of intense diffuse bone marrow uptake suggests that the patient has active and advanced stage disease, while a negative
scan in a patient with MM clearly indicates remission.
Received 12 February and in revised form 16 April 1998 相似文献
5.
Gaetano Corazzelli Francesco Angrilli Alfonso D'Arco Felicetto Ferrara Pellegrino Musto Attilio Guarini Maria Christina Cox Caterina Stelitano Sergio Storti Emilio Iannitto Simona Falorio Catello Califano Alfonso Amore Manuela Arcamone Rosaria De Filippi Antonio Pinto 《British journal of haematology》2013,160(2):207-215
The management of patients with Hodgkin lymphoma (HL) recurring after stem cell transplantation (SCT) and multiply relapsed disease remains challenging. We report on 41 such patients who received bendamustine hydrochloride, a bifunctional mechlorethamine derivative mechanistically unrelated to traditional alkylators, after a median of four prior chemotherapy lines, including SCT in 85% of cases. Bendamustine was given at doses of 90–120 mg/m2 every 21 or 28 d. At first assessment (2–4 cycles), the overall response rate (ORR) was 78% with 12 (29%) complete (CR) and 20 (49%) partial responses (PR). Upon treatment prolongation to 6–8 courses, 40% of PRs progressed, yielding a final ORR of 58% with 31% of CRs. Eight patients (two CRs, six PRs) were subsequently allotransplanted. Median progression‐free and overall survival exceeded 11 and 21 months respectively; complete responders displayed a median disease‐free survival above 9 months with a relapse rate of only 30%. Outcomes were independent of disease chemosensitivity, previous transplant and bendamustine dose‐intensity. No life‐threatening or unexpected adverse events occurred. Within the limits of a retrospective analysis and schedule heterogeneity, these results appear very encouraging and prompt prospective trials to confirm bendamustine as a valuable option in the palliative setting and in cytoreductive strategies before allotransplantation. 相似文献
6.
Della Marca G Vasta I Scarano E Rigante M De Feo E Mariotti P Rubino M Vollono C Mennuni GF Tonali P Zampino G 《American journal of medical genetics. Part A》2006,140(3):257-262
Costello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto-oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3-29 years, affected by CS. All patients underwent clinical, neurological, otholaryngologic and radiologic evaluation, and a full-night polysomnography in the sleep laboratory. Polysomnography showed that seven patients presented a relevant number of respiratory events of obstructive type during sleep. The apnea-hypopnea index (AHI) ranged from 0 to 19.2 events per hour (mean index = 7.5 +/- 6.9 events/hr). In one patient AHI was not evaluable because of tracheostomy. Apnea induced mild or moderate hemoglobin desaturations (mean of lowest SpO2 values = 85.4 +/- 5.5%). Only sporadic respiratory pauses of central type were observed (mean number of central apnea per study: 7.2 +/- 6.8 events/hr). Sleep structure was fragmented, with a high number of awakenings (mean number of awakenings was 13.2 +/- 8.1; of these, 4.8 +/- 2.5 lasted longer than 2 min). In all patients, otolaryngologic and radiologic observations revealed one or more sites of narrowing in the upper airways. Our results suggest that Costello patients have a high prevalence of obstructive sleep-related respiratory disorders, which need to be assessed by means of polysomnography. 相似文献
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8.
Marina Romozzi Guido Primiano Eleonora Rollo Lorena Travaglini Paolo Calabresi Serenella Servidei Catello Vollono 《The journal of headache and pain》2021,22(1)
Background and aimsHemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial. Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified into 3 subtypes, based on the gene involved (CACNA1A in FHM1, ATP1A2 in FHM2 and SCN1A in FHM3). The clinical presentation is highly heterogeneous and some attacks may be severe.We report the clinical characteristics and genetic analysis of 12 patients belonging to a family with CACNA1A-p.Thr501Met gene mutation.MethodsWe screened for mutations in CACNA1A gene 15 patients belonging to the same family. The exonic sequences of CACNA1A were analyzed using a Tru-seq® Custom Amplicon (TSCA) (Illumina Inc., San Diego, CA) targeted capture and paired end library kit. Sanger sequencing was used to confirm CACNA1A variants and segregation analysis.ResultsCACNA1A-p.Thr501Met mutation was found in 12 of the 15 patients screened, which was compatible with the diagnosis of FHM1.Attacks of hemiplegic migraine were reported by 10 of the 12 subjects (83.33%). Only one subject developed persistent mild cerebellar symptoms and none of the subjects developed cerebellar atrophy.DiscussionThe variant p.Thr501Met was described previously in association with episodic ataxia and rarely with FHM related to cerebellar symptoms. FHM1 has a broad clinical spectrum and about half of the families have cerebellar involvement. In our study, only one patient developed persistent cerebellar deficits.These data suggest that CACNA1A-p.Thr501Met mutation can occur prevalently as hemiplegic migraine.Supplementary InformationThe online version contains supplementary material available at 10.1186/s10194-021-01297-5. 相似文献
9.
Lenalidomide in Pretreated Mantle Cell Lymphoma Patients: An Italian Observational Multicenter Retrospective Study in Daily Clinical Practice (the Lenamant Study)
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Vittorio Stefoni Cinzia Pellegrini Alessandro Broccoli Luca Baldini Monica Tani Emanuele Cencini Amalia Figuera Michela Ansuinelli Elisa Bernocco Maria Cantonetti Maria Christina Cox Filippo Ballerini Chiara Rusconi Carlo Visco Luca Arcaini Angelo Fama Roberto Marasca Stefano Volpetti Alessia Castellino Catello Califano Marina Cavaliere Guido Gini Anna Marina Liberati Gerardo Musuraca Anna Lucania Giuseppina Ricciuti Lisa Argnani Pier Luigi Zinzani 《The oncologist》2018,23(9):1033-1038
10.
Mazzucchi Edoardo Vollono Catello Pauletto Giada Lettieri Christian Budai Riccardo Gigli Gian Luigi Sabatino Giovanni La Rocca Giuseppe Skrap Miran Ius Tamara 《Journal of neurology》2022,269(5):2627-2633
Journal of Neurology - Seizures are the most common clinical manifestation of low-grade glioma (LGG). Many papers hypothesized an influence of epilepsy on glioma progression. To our knowledge, no... 相似文献