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1.
Pediatr Emerg Care ; 2023 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-38048551

RESUMEN

INTRODUCTION: Definitions of pediatric overtriage and unnecessary transfers for injured children have been instituted from a viewpoint of referral centers and have doubtful value for effecting interventions at referring centers. This study provides a unique insight into the factors prompting transfers at a peripheral institution. METHODS: The trauma registry of a level 2 pediatric trauma center was accessed, and pediatric transfers out to 2 level 1 pediatric trauma centers were identified over a period of 4 years. The outcomes of these patients at the accepting institutions were charted for descriptive analysis. RESULTS: The study identified 46 patients transferred out with a transfer rate of 6.6% when compared with total admissions. The mean Injury Severity Score (ISS) was 6.5, and the mean length of stay (LOS) at the receiving institution was 2.8 days. The reason for transfer from a specialty standpoint revealed 21 neurosurgical, 12 burn, 6 orthopedic, 4 faciomaxillary, and 2 ophthalmology patients. Overall transfer rate was 6.6%. Pediatric overtriage when defined as LOS < 24 hours at the receiving institution was 46.7%. Fifty percent of pediatric overtriage was prompted by need for a pediatric neurosurgery consult with medicolegal concern being cited as reason for transfer. Secondary overtriage when defined as LOS < 24 hours, no pediatric intensive care admission, no surgical intervention, and ISS < 9 was found in 13 patients (30.9%). The proportion of patients with Medicaid insurance was not different for the admissions (43.5%) when compared with the transfers (42.7%). CONCLUSIONS: Existing definitions of overtriage have limited value in effecting interventions to reduce unnecessary transfers. Identifying specific factors at referring institutions including providing local availability of pediatric surgical specialists will potentially help mitigate injury-related pediatric overtriage.

2.
J Biol Regul Homeost Agents ; 29(2 Suppl 1): 55-7, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26634588

RESUMEN

High mobility group box 1, an evolutionary ancient protein conserved in the eukaryotic kingdom, exerts intra- and extra- cellular functions, orchestrating a homeostatic defensive response in challenged tissues. Its action associated with various inflammatory cells is essential for the occurrence, progression, and persistence of asthma, rhinitis, and nasal polyposis. The recent discovery of High mobility group box 1, as a critical mediator of inflammation, stimulated an increasing interest in the field of inflammation research, suggesting new therapies for atopic and non-atopic inflammatory processes.

3.
Hum Reprod ; 28(11): 3155-60, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24008148

RESUMEN

STUDY QUESTION: Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents? SUMMARY ANSWER: The present study shows that SHOX haploinsufficiency is unlikely to be associated with Y-chromosome microdeletions. WHAT IS KNOWN ALREADY: Y-chromosome microdeletions are not commonly known as a major molecular genetic cause of any pathological condition except spermatogenic failure. However, it has been recently proposed that they are associated not only with infertility but also with anomalies in the pseudoautosomal regions (PAR), among which SHOX haploinsufficiency stands out with a frequency of 5.4% in microdeletion carriers bearing a normal karyotype. This finding implies that sons fathered by men with Y-chromosome defects will not only exhibit fertility problems, but might also suffer from SHOX-related conditions. STUDY DESIGN: Five European laboratories (Florence, Münster, Barcelona, Padova and Ancona), routinely performing Y-chromosome microdeletion screening, were enrolled in a multicenter study. PARTICIPANTS/MATERIALS, SETTING, METHODS: PAR-linked and SHOX copy number variations (CNVs) were analyzed in 224 patients carrying Y-chromosome microdeletions and 112 controls with an intact Y chromosome, using customized X-chromosome-specific array-CGH platforms and/or qPCR assays for SHOX and SRY genes. MAIN RESULTS AND THE ROLE OF CHANCE: Our data show that 220 out of 224 (98.2%) microdeletion carriers had a normal SHOX copy number, as did all the controls. No SHOX deletions were found in any of the examined subjects (patients as well as controls), thus excluding an association with SHOX haploinsufficiency. SHOX duplications were detected in 1.78% of patients (n = 4), of whom two had an abnormal and two a normal karyotype. This might suggest that Y-chromosome microdeletions have a higher incidence for SHOX duplications, irrespective of the patient's karyotype. However, the only clinical condition observed in our four SHOX-duplicated patients was infertility. LIMITATIONS, REASONS FOR CAUTION: The number of controls analyzed is rather low to assess whether the SHOX duplications found in the two men with Y-chromosome microdeletions and a normal karyotype represent a neutral polymorphism or are actually associated with the presence of the microdeletion. WIDER IMPLICATIONS OF THE FINDINGS: Men suffering from infertility due to the presence of Y-chromosome microdeletions can resort to artificial reproductive technology (ART) to father their biological children. However, infertile couples must be aware of the risks implied and this makes genetic counseling a crucial step in the patient's management. This study does not confirm previous alarming data that showed an association between Y-chromosome microdeletions and SHOX haploinsufficiency. Our results imply that deletion carriers have no augmented risk of SHOX-related pathologies (short stature and skeletal anomalies) and indicate that there is no need for radical changes in genetic counseling of Yq microdeletion carriers attempting ART, since the only risk established so far for their male offspring remains impaired spermatogenesis. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the Italian Ministry of University (grant PRIN 2010-2012 to C.K.), Tuscan Regional Health Research Program ('Progetto Salute 2009') to G.F., the Spanish Ministry of Health (grant FIS-11/02254) and the European Union 'Reprotrain' Marie Curie Network (project number: 289880 to C.K.). The authors declare that no conflicting interests exist.


Asunto(s)
Cromosomas Humanos Y , Haploinsuficiencia/genética , Proteínas de Homeodominio/genética , Hibridación Genómica Comparativa , Duplicación de Gen , Humanos , Infertilidad Masculina/genética , Cariotipo , Masculino , Fenotipo , Eliminación de Secuencia , Proteína de la Caja Homeótica de Baja Estatura
4.
Radiol Med ; 118(1): 123-39, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22430678

RESUMEN

The oral cavity is a complex anatomical region consisting of different anatomical sites and subsites. Cancer undoubtedly represents the most frequent and relevant disease of this region. Clinical examination is often the first approach to oral cavity tumours. Cross-sectional computed tomography (CT) and magnetic resonance imaging (MRI) play a key role in staging locoregional disease by demonstrating submucosal spread and involvement of deep layers; evaluation of specific pathways of spread to peculiar anatomical subsites is also fundamental information that can be obtained with these techniques. The purpose of this paper is to illustrate CT and MRI findings of anatomical subsites involved by tumours of the oral cavity.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Neoplasias de la Boca/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Humanos , Neoplasias de la Boca/diagnóstico por imagen , Neoplasias de la Boca/patología , Estadificación de Neoplasias
5.
Radiol Med ; 116(4): 657-66, 2011 Jun.
Artículo en Inglés, Italiano | MEDLINE | ID: mdl-21424565

RESUMEN

PURPOSE: This study was undertaken to evaluate the potential of multidetector computed tomography (MDCT) for multiplanar visualisation of the tympanic canaliculus both in healthy individuals and in patients affected by chronic inflammatory disease of the middle ear. MATERIALS AND METHODS: A preliminary study was performed on three dried skulls by placing a metal landmark inside the tympanic canal lumen with a view to optimising depiction by multiplanar CT. Subsequently, 50 patients were enrolled in a prospective study. Three of the 100 petrous pyramids studied were excluded owing to the presence of jugulotympanic glomus tumour with severe bone changes. RESULTS: The entire course of the tympanic canaliculus was identified in 80/97 petrous pyramids (82.4%), 57 of which were normal (75.4% detection rate) and 40 pathological (90% detection rate). To assess the tympanic canaliculus in the pathological petrous pyramids and evaluate its possible role in the disease process, some qualitative criteria were introduced: canal enlargement, loss of margin sharpness, focal erosion of canal margins and presence of pathological tissue. CONCLUSIONS: MDCT represents the only technique allowing evaluation of the tympanic canal in vivo and with multiplanar images in a large number of cases (82.4%).


Asunto(s)
Hueso Petroso/anatomía & histología , Tomografía Computarizada por Rayos X , Adulto , Anciano , Oído Medio/diagnóstico por imagen , Oído Medio/inervación , Femenino , Nervio Glosofaríngeo/anatomía & histología , Humanos , Técnicas In Vitro , Masculino , Persona de Mediana Edad , Otitis Media/diagnóstico por imagen
6.
AJNR Am J Neuroradiol ; 42(5): 896-903, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33664106

RESUMEN

BACKGROUND AND PURPOSE: Successful vessel recanalization in posterior circulation large-vessel occlusion is considered crucial, though the evidence of clinical usefulness, compared with the anterior circulation, is not still determined. The aim of this study was to evaluate predictors of favorable clinical outcome and to analyze the effect of first-pass thrombectomy. MATERIALS AND METHODS: A retrospective, multicenter, observational study was conducted in 10 high-volume stroke centers in Europe, including the period from January 2016 to July 2019. Only patients with an acute basilar artery occlusion or a single, dominant vertebral artery occlusion ("functional" basilar artery occlusion) who had a 3-month mRS were included. Clinical, procedural, and radiologic data were evaluated, and the association between these parameters and both the functional outcome and the first-pass effect was assessed. RESULTS: A total of 191 patients were included. A lower baseline NIHSS score (adjusted OR, 0.77; 95% CI, 0.61-0.96; P = .025) and higher baseline MR imaging posterior circulation ASPECTS (adjusted OR, 3.01; 95% CI, 1.03-8.76; P = .043) were predictors of better outcomes. The use of large-bore catheters (adjusted OR, 2.25; 95% CI, 1.08-4.67; P = .030) was a positive predictor of successful reperfusion at first-pass, while the use of a combined technique was a negative predictor (adjusted OR, 0.26; 95% CI, 0.09-0.76; P = .014). CONCLUSIONS: The analysis of our retrospective series demonstrates that a lower baseline NIHSS score and a higher MR imaging posterior circulation ASPECTS were predictors of good clinical outcome. The use of large-bore catheters was a positive predictor of first-pass modified TICI 2b/3; the use of a combined technique was a negative predictor.


Asunto(s)
Arteriopatías Oclusivas/cirugía , Accidente Cerebrovascular/cirugía , Trombectomía/métodos , Anciano , Anciano de 80 o más Años , Arteriopatías Oclusivas/complicaciones , Arteria Basilar/patología , Catéteres , Procedimientos Endovasculares/instrumentación , Procedimientos Endovasculares/métodos , Europa (Continente) , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reperfusión/métodos , Estudios Retrospectivos , Accidente Cerebrovascular/etiología , Trombectomía/instrumentación , Resultado del Tratamiento , Insuficiencia Vertebrobasilar/complicaciones , Insuficiencia Vertebrobasilar/cirugía
8.
Med Teach ; 30(8): e246-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18946812

RESUMEN

BACKGROUND: Different forms of small group interactive teaching have found an increasing role in medical education in the recent past. OBJECTIVES: This study aimed to evaluate the efficacy of topic-based small group tutorials and compare between two such tutorials, the directed tutorial where the tutor takes the initiative and the inductive tutorial which places the initiative on the student. METHODS: Final-year medical students were exposed to alternate sessions of directed and inductive teaching during their rotation in paediatric surgery. For inductive teaching, the topic was announced and the students took turns in asking questions and answering them, the tutor stepping in only when required. The tutor both initiated and guided the discussion in the directed method. Students assessed the tutorials and compared the two learning methods evaluating eight different parameters using a Likert scale. Statistical significance was tested using the Wilcoxon signed ranks test. RESULTS: Feedback was available from 49 out of 52 students. The tutorials were ranked highly for all parameters studied. The inductive method was better for comfort, interest, memory, inspiration to read more, comprehension and for correlation with previous knowledge (P < 0.05). The directed method was superior for the content covered in a given time (P < 0.001). CONCLUSIONS: The topic-based tutorials were effective. The inductive method by adding a reflective component, appeared to facilitate deep learning. Further research will determine its suitability for formal introduction into the curriculum.


Asunto(s)
Procesos de Grupo , Aprendizaje , Enseñanza/métodos , Educación Médica/métodos , Humanos , Aprendizaje Basado en Problemas , Encuestas y Cuestionarios
9.
J Laparoendosc Adv Surg Tech A ; 18(6): 881-6, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19105675

RESUMEN

We conducted a survey among pediatric surgeons to examine the impact of the advent of minimally invasive surgery (MIS) on the pediatric surgical profession with respect to job satisfaction and training challenges. An invitation to participate in a web-based questionnaire was sent out to 306 pediatric surgeons. Apart from demographic details and training recommendations, parameters relevant to job satisfaction, including patient interaction, peer pressure, ethical considerations, academic progress, ability to train residents, and financial remuneration, were studied. The response rate was 38.2%. Working in a unit performing MIS was identified by 71% of respondents as the most effective and feasible modality of training in MIS. Inability to get away from a busy practice was the most common reason cited for inability to acquire MIS training. The overall responses to the job satisfaction parameters showed a positive trend in the current MIS era for patient interaction, ethical considerations, academic progress, and training residents, with a negative trend for peer pressure and financial remuneration. The enthusiastic minimally invasive surgeons (EMIS) were defined as those having more than 5 years of MIS experience and also performing more than 10% of their work using MIS. Of the 113 responses analyzed, 67 belonged to the EMIS category. Those belonging to the EMIS group were less likely to feel inadequate in training their residents, in meeting the felt needs of the patients, or to complain about peer pressure. They were more likely to consider MIS to be as relevant and beneficial in children as in adults. Embracing MIS, as represented by the EMIS group, correlated with an overall greater job satisfaction.


Asunto(s)
Procedimientos Quirúrgicos Mínimamente Invasivos , Pediatría , Especialidades Quirúrgicas , Movilidad Laboral , Distribución de Chi-Cuadrado , Ética Médica , Humanos , Satisfacción en el Trabajo , Pediatría/economía , Pediatría/educación , Pediatría/ética , Grupo Paritario , Relaciones Médico-Paciente , Especialidades Quirúrgicas/economía , Especialidades Quirúrgicas/educación , Especialidades Quirúrgicas/ética , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Carga de Trabajo
10.
J Laparoendosc Adv Surg Tech A ; 18(5): 759-62, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18699748

RESUMEN

PURPOSE: This study attempted to define an optimum animal model for neonatal thoracoscopy. MATERIALS AND METHODS: Seven rabbits and three 5-7-kg piglets were subjected to thoracoscopy by three pediatric surgeons. The outcome for the successful completion of esophageal anastomosis and additional procedures, including diaphragmatic plication and lung biopsy, were noted. RESULTS: Whereas esophageal anastomosis could be accomplished in all piglets, it could be achieved in only 1 rabbit. Additional procedures were possible in 2 piglets and no rabbits. Anesthetic complications were seen in 4 rabbits and 1 piglet. CONCLUSION: Our findings suggest that the piglet may be the optimum animal model for replicating neonatal thoracoscopy. The fragility of the rabbit, coupled with a limited intrathoracic working space, limits its use for thoracoscopy.


Asunto(s)
Modelos Animales , Toracoscopía/métodos , Animales , Humanos , Recién Nacido , Conejos , Porcinos
11.
Pediatr Emerg Care ; 24(5): 317-8, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-18496118

RESUMEN

A 13-year-old previously asymptomatic patient presented with abdominal pain and vomiting. Chest radiogram revealed a left intrathoracic stomach. Laparotomy confirmed a dilated, hypertrophic stomach herniating through a left Bochdalek hernia. The patient recovered after a period of prolonged gastric paresis. While highlighting the importance of considering this condition in the differential diagnosis of a cystic lesion in the chest, this article also postulates a mechanism for the hypertrophic gastric dilatation in a late presentation of a congenital diaphragmatic hernia.


Asunto(s)
Dilatación Gástrica/etiología , Hernia Diafragmática/complicaciones , Adolescente , Diagnóstico Diferencial , Femenino , Dilatación Gástrica/fisiopatología , Dilatación Gástrica/cirugía , Hernia Diafragmática/diagnóstico , Hernia Diafragmática/diagnóstico por imagen , Humanos , Radiografía
13.
Andrology ; 6(1): 230-235, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-28950441

RESUMEN

Despite more cancers in young men over the past two decades, improvements in therapies give a greater chance to live full lives following treatment. Sperm genomic quality is variable following cancer diagnosis, so its assessment is important if sperm cryopreservation is being considered. Here, we evaluated DNA damage using two DNA damage assays: an alkaline and for the first time, a neutral Comet assays in men presenting with testicular cancer (n = 19 for alkaline and 13 for neutral group) and lymphoma (n = 13 for alkaline and 09 for neutral group) compared with fertile donors (n = 20 for alkaline and 14 for neutral group). No significant differences were observed in any semen analysis parameters. In contrast, sperm DNA damage was higher in men with testicular cancer than in donors as assessed by both the alkaline (12.4% vs. 37.4%, p < 0.001) and neutral (7.5% vs. 13.4%; p < 0.05) Comet assays. Similar trends were observed in men with lymphoma. Here, sperm DNA damage was higher using both the alkaline (35.0% vs. 12.4%) and neutral (10.7% against 7.5% (p < 0.05) Comet assays. Moreover, the DNA strand breaks (particularly double-strand breaks) were significantly more prominent in men with cancer having abnormal seminal parameters than normozoospermic ones. This study showed that sperm DNA testing using alkaline and neutral Comet assays is more sensitive than semen analysis in detecting impaired sperm quality in men presenting with cancer. It may provide a useful adjunct when considering storage prior to cancer investigations and assisted reproductive techniques (ART)-based treatment.


Asunto(s)
Ensayo Cometa/métodos , Fragmentación del ADN , Linfoma/complicaciones , Análisis de Semen/métodos , Neoplasias Testiculares/complicaciones , Humanos , Masculino , Espermatozoides/patología
14.
Andrology ; 5(3): 414-422, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28296254

RESUMEN

The standard FSH treatment is based on a 3 months period, after which both quantitative/qualitative improvement of sperm parameters and increased pregnancy rate were reported. In this prospective clinical trial, for the first time, we studied (i) Sperm hyaluronic acid binding capacity after highly purified FSH (hpFSH) treatment; (ii) the effect after short-term and standard treatment on this functional parameter. As secondary objective, we analyzed three SNPs on FSHß and FSHR genes to define their potential predictive value for responsiveness. From a total of 210 consecutive patients, 40 oligo- and/or astheno- and/or teratozoospermic patients fulfilled the inclusion criteria. Treatment consisted in hpFSH 75 IU/L every other day for 3 months. To avoid potential biases derived from the lack of placebo, we analyzed each patient after 4-6 months of 'wash-out' period. After FSH treatment, we observed a statistically significant (p < 0.001) improvement of the percentage of hyaluronic acid bound spermatozoa from basal to T1 (after 1 month) and to T3 (after 3 months). Importantly, these values returned to near-baseline value after the wash-out. The same results were detected for total motile sperm count after 3 months with return to baseline after wash-out. Forty-two percent of patients responded to the therapy with increasing hyaluronic acid binding capacity above the double of the Intraindividual Variation (IV) while 24% of patients reached above the normal Sperm-Hyaluronan Binding Assay (HBA) value. Further increase in 'responders' was observed at T3. The responsiveness to treatment resulted independent from FSHR/FSHß polymorphisms. The significant positive effect on sperm maturity after 1 month opens novel therapeutic perspectives. In view of both the high cost and the relative invasiveness of treatment, the short protocol (1 month) could represent a viable FSH treatment option prior Assisted Reproductive Techniques since FSH, by acting on sperm maturation, increases the proportion of functionally competent cells.


Asunto(s)
Hormona Folículo Estimulante/uso terapéutico , Infertilidad Masculina/tratamiento farmacológico , Maduración del Esperma/efectos de los fármacos , Espermatozoides/efectos de los fármacos , Proteínas Portadoras/genética , Genotipo , Glicopéptidos/genética , Humanos , Infertilidad Masculina/genética , Masculino , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Receptores de HFE/genética
15.
J Neurointerv Surg ; 9(1): 6-10, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26984869

RESUMEN

BACKGROUND AND PURPOSE: Aspiration thrombectomy of large vessel occlusions has made a comeback among recanalization techniques thanks to recent advances in catheter technology resulting in faster recanalization and promising clinical results when used either alone or as an adjunct to stent retriever. This multicenter retrospective study reports angiographic data, complications, and clinical outcome in patients treated with aspiration thrombectomy as the first-line option. MATERIALS AND METHODS: We analysed the clinical and procedural data of patients treated from January 2014 to March 2015. Recanalization was assessed according to the Thrombolysis in Cerebral Infarction score. Clinical outcome was evaluated at discharge and after 3 months. RESULTS: Overall, 152 patients (mean age 68 years) were treated. Sites of occlusion were 90.8% anterior circulation (including 16.4% tandem extracranial/intracranial occlusions) and 9.2% basilar artery. In 79 patients administration of intravenous tissue plasminogen activator was attempted. Recanalization of the target vessel was obtained in 115/152 cases (75.6%) whereas direct aspiration alone was successful in 83/152 cases (54.6%) with an average puncture to revascularization time of 44.67 min. Symptomatic intracranial hemorrhage occurred in 7.8% and embolization to new territories in 1.9%. 77 patients (50.6%) had a good outcome at 90-day follow-up: 55/96 in the direct aspiration alone group and 22/56 in the aspiration-stent retriever group. CONCLUSIONS: Direct aspiration thrombectomy appears a feasible technique with good revascularization results achieved in more than half the patients. In light of the self-reported data, inhomogeneous patient selection, absence of a core imaging laboratory, and a non-standardized approach, the results should be validated in a larger trial.


Asunto(s)
Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/cirugía , Procedimientos Endovasculares/métodos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/cirugía , Trombectomía/métodos , Adulto , Anciano , Anciano de 80 o más Años , Arteria Basilar/diagnóstico por imagen , Arteria Basilar/cirugía , Isquemia Encefálica/epidemiología , Revascularización Cerebral/métodos , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Stents/efectos adversos , Accidente Cerebrovascular/epidemiología , Activador de Tejido Plasminógeno/administración & dosificación , Resultado del Tratamiento
16.
Ann N Y Acad Sci ; 1073: 183-9, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17102085

RESUMEN

Mutations in genes encoding mitochondrial succinate dehydrogenase (SDH) are frequently involved in the development of neural crest-derived (NCD) tumors, such as pheochromocytomas (PHEOs) or paragangliomas (PGLs). In this study we report the results of sequencing analysis in leukocyte DNA of patients affected by PHEO/PGL who turned out to be SDH mutation carriers. A nonsense germline heterozygous mutation (Q109X) was found in the exon 4 of the SDHD gene in the index cases of six unrelated families affected by PHEO/PGL. Haplotype analysis showed the presence of a founder effect. Affected patients showed high clinical variability, ranging from monolateral to bilateral glomus tumors, variably associated or not with PGLs or PHEOs. A novel missense SDHD variant, T112I, was also found in one of our families. A new missense G106D mutation, involving a highly conserved amino acid, was found in two sisters affected by bilateral glomus tumors. A P81L mutation associated with abdominal and head and neck PGL was detected in three families. A G12S variant of the SDHD gene was found in one patient affected by a PHEO. The finding of this variant in 3 of 100 control subjects suggests that it is a polymorphism and not a mutation. A novel IVS2-1G>T variant was found at intron 2 of SDHD gene in one patient affected by a glomus tumor. All the tumors associated with SDHD mutations were benign. Conversely, the only mutation we found in SDHB gene (IVS3+1G>A) was associated with a malignant PHEO.


Asunto(s)
Mutación de Línea Germinal , Paraganglioma/genética , Succinato Deshidrogenasa/genética , Secuencia de Aminoácidos , Animales , Heterocigoto , Humanos , Datos de Secuencia Molecular , Homología de Secuencia de Aminoácido , Succinato Deshidrogenasa/química
17.
J Pediatr Surg ; 50(11): 1842-5, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25888273

RESUMEN

BACKGROUND: Though single incision laparoscopic cholecystectomy (SILC) is cosmetically appealing, it is technically a difficult operation. The recent introduction of robotic single-site cholecystectomy (RSSC) has made single incision cholecystectomy easier to perform. While a few papers have reported its application in adults, it has not been documented in children. METHODS: Data on seventeen consecutive children who underwent RSSC by a single surgeon over a ten-month period were retrospectively reviewed. Patient demographics, total operative time, console time, hospital stay, complications and reasons for procedural delay were recorded. RESULTS: Sixteen operations were completed robotically using the single incision robotic platform. No major postoperative complications were noted. Median total operative time was 94 minutes with interquartile range (IQR) being 81.5-119.5 minutes. The median console time was 39 minutes (IQR: 30-72 minutes). The median total operative time for the first eight cases was 118 minutes (IQR: 103-127 minutes) and for the next nine cases 90 minutes (IQR: 76-93 minutes). Common causes for procedural delay were slipped clips, bile spillage, bleeding and leaking Single-Site® port. CONCLUSIONS: This unique series of RSSC documents its feasibility and safety in children. A short learning curve and operative times comparable to RSSC in adults and SILC in children were observed. Being technically easier, RSSC becomes an attractive alternative to SILC to sustain its cosmetic benefit.


Asunto(s)
Colecistectomía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Adolescente , Niño , Preescolar , Colecistectomía Laparoscópica , Estudios de Factibilidad , Femenino , Humanos , Curva de Aprendizaje , Tiempo de Internación , Masculino , Tempo Operativo , Complicaciones Posoperatorias , Estudios Retrospectivos , Adulto Joven
18.
AJNR Am J Neuroradiol ; 36(10): 1853-8, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26113071

RESUMEN

BACKGROUND AND PURPOSE: MR imaging tractography is increasingly used to perform noninvasive presurgical planning for brain gliomas. Recently, constrained spherical deconvolution tractography was shown to overcome several limitations of commonly used DTI tractography. The purpose of our study was to evaluate WM tract alterations of both the corticospinal tract and arcuate fasciculus in patients with high-grade gliomas, through qualitative and quantitative analysis of probabilistic constrained spherical deconvolution tractography, to perform reliable presurgical planning. MATERIALS AND METHODS: Twenty patients with frontoparietal high-grade gliomas were recruited and evaluated by using a 3T MR imaging scanner with both morphologic and diffusion sequences (60 diffusion directions). We performed probabilistic constrained spherical deconvolution tractography and tract quantification following diffusion tensor parameters: fractional anisotropy; mean diffusivity; linear, planar, and spherical coefficients. RESULTS: In all patients, we obtained tractographic reconstructions of the medial and lateral portions of the corticospinal tract and arcuate fasciculus, both on the glioma-affected and nonaffected sides of the brain. The affected lateral corticospinal tract and the arcuate fasciculus showed decreased fractional anisotropy (z = 2.51, n = 20, P = .006; z = 2.52, n = 20, P = .006) and linear coefficient (z = 2.51, n = 20, P = .006; z = 2.52, n = 20, P = .006) along with increased spherical coefficient (z = -2.51, n = 20, P = .006; z = -2.52, n = 20, P = .006). Mean diffusivity values were increased only in the lateral corticospinal tract (z = -2.53, n = 20, P = .006). CONCLUSIONS: In this study, we demonstrated that probabilistic constrained spherical deconvolution can provide essential qualitative and quantitative information in presurgical planning, which was not otherwise achievable with DTI. These findings can have important implications for the surgical approach and postoperative outcome in patients with glioma.


Asunto(s)
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Imagen de Difusión Tensora/métodos , Glioma/diagnóstico , Glioma/patología , Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Magnética/métodos , Vías Nerviosas/patología , Tractos Piramidales/patología , Adulto , Anciano , Encéfalo/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor
19.
Andrology ; 3(2): 203-12, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25755131

RESUMEN

The aim of this study was to provide a comprehensive genetic/phenotypic characterization of subjects suffering infertility owing to sperm macrocephaly (n = 3) or globozoospermia (n = 9) and to investigate whether the patients' genetic status was correlated with the alteration of various sperm parameters. AURKC was sequenced in case of sperm macrocephaly while the DPY19L2 status has been analyzed by multiple approaches including a novel qPCR-based copy number assay in case of globozoospermia. Globozoospermic patients were also analyzed for SPACA1, a novel candidate gene herein tested for the first time in humans. The effect of the patients' genetic status was interrogated by implementing the molecular screening with the characterization of several sperm parameters: (i) routine sperm analysis, integrated with transmission electron microscopy; (ii) sperm fluorescent in situ hybridization (FISH) analysis; (iii) sperm DNA fragmentation (DF) analysis. Moreover, for the first time, we performed microsatellite instability analysis as a marker of genome instability in men with sperm macrocephaly and globozoospermia. Finally, artificial reproductive technology (ART) history has been reported for those patients who underwent the treatment. Macrocephalic patients had an AURKC mutation and >89% tetraploid, highly fragmented spermatozoa. DPY19L2 was mutated in all patients with >80% globozoospermia: the two homozygous deleted men and the compound heterozygous showed the severest phenotype (90-100%). The newly developed qPCR method was fully validated and has the potential of detecting also yet undiscovered deletions. DPY19L2 status is unlikely related to FISH anomalies and DF, although globozoospermic men showed a higher disomy rate and DF compared with internal reference values. No patient was mutated for SPACA1. Our data support the general agreement on the negative correlation between macro/globozoospermia and conventional intracytoplasmic sperm injection outcomes. Microsatellites were stable in all patients analyzed. The comprehensive picture provided on these severe phenotypes causing infertility is of relevance in the management of patients undergoing ART.


Asunto(s)
Infertilidad Masculina/complicaciones , Espermatozoides/anomalías , Humanos , Hibridación Fluorescente in Situ , Masculino , Microscopía Electrónica de Transmisión , Espermatozoides/ultraestructura
20.
Am J Hypertens ; 10(4 Pt 1): 447-53, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9128212

RESUMEN

Doppler-derived indices of diastolic filling are widely used in the routine evaluation of essential hypertensives. However, these indices are affected by loading conditions and systolic performance. This study aimed at monitoring the transmitral flow pattern and indices of left ventricular systolic function during acute nonpharmacological isolated reduction of preload in essential hypertensives with left ventricular hypertrophy. Nine essential hypertensive patients with left ventricular hypertrophy and nine age- and sex-matched normotensive controls underwent echocardiographic and Doppler evaluation of both systolic function and diastolic filling indices at baseline and during lower body suction at -40 mm Hg. Lower body suction caused a similar decrease in end-diastolic volume index, stroke volume index, and midwall fractional shortening in the normotensives and hypertensives. Circumferential end-systolic stress was unaffected in both groups. Acceleration time of early diastolic filling and isovolumic relaxation time increased in the normotensives but not in the hypertensives. Deceleration time of early diastolic filling increased in both groups. The ratio of peak velocities during early filling and at atrial contraction decreased in the normotensives, whereas it was unchanged in the hypertensives; this was due to the fact that early filling velocity decreased in both groups, whereas peak velocity at atrial contraction decreased only in the hypertensives. We conclude that Doppler-derived diastolic filling indices are not affected by a reduction of preload in essential hypertensives with left ventricular hypertrophy.


Asunto(s)
Diástole , Hipertensión/fisiopatología , Hipertrofia Ventricular Izquierda/fisiopatología , Ecocardiografía Doppler , Humanos
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