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1.
Am J Hematol ; 99(4): 534-542, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38282561

RESUMEN

This study identifies a new chronic form of immune neutropenia in the young with or without detectable indirect anti-neutrophil antibodies, characterized by mild/moderate neutropenia low risk of severe infection (14%), tendency to develop autoimmune phenomena over the course of the disease (cumulative incidence of 58.6% after 20 years of disease duration), leukopenia, progressive reduction of absolute lymphocyte count and a T- and B-cell profile similar to autoimmune disorders like Sjogren syndrome, rheumatoid arthritis, and systemic lupus erythematosus (increased HLADR+ and CD3 + TCRγδ cells, reduced T regulatory cells, increased double-negative B and a tendency to reduced B memory cells). In a minority of patients, P/LP variants related to primary immuno-regulatory disorders were found. This new form may fit the group of "Likely acquired neutropenia," a provisional category included in the recent International Guidelines on Diagnosis and Management of Neutropenia of EHA and EUNET INNOCHRON ACTION 18233. The early recognition of this form of neutropenia would help clinicians to delineate better specific monitoring plans, genetic counseling, and potentially targeted therapies.


Asunto(s)
Artritis Reumatoide , Enfermedades Autoinmunes , Lupus Eritematoso Sistémico , Neutropenia , Trombocitopenia , Humanos , Neutropenia/etiología , Neutropenia/terapia , Enfermedades Autoinmunes/complicaciones , Lupus Eritematoso Sistémico/complicaciones , Trombocitopenia/complicaciones
2.
J Endocrinol Invest ; 47(7): 1633-1640, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38457058

RESUMEN

PURPOSE: In light of the growing concern over the possible link between SARS-CoV2 infection and autoimmune diseases, we conducted a review to investigate the impact of the pandemic outbreak on thyroid diseases. METHODS: We carried out a narrative review of all pediatric cases described in the literature, mainly focusing on the possible association of COVID-19 with the incidence of autoimmune and post-infective thyroid diseases (namely Hashimoto's Thyroiditis (HT), Grave's Disease (GD) and Sub-Acute Thyroiditis (SAT)). We also felt it was necessary to provide a brief review of Non-thyroidal Illness Syndrome (NTIS) and Multisystem Inflammatory Syndrome in Children (MIS-C) because of their overlap with thyroiditis. RESULTS: There is currently no conclusive evidence linking SARS-CoV-2 infection with an increased incidence of autoimmune thyroiditis (AT) in pediatric age. However, SAT may be a mild complication of SARS-CoV-2 infection, as is the case with other viral infections. SAT typically resolves on its own and does not require treatment. NTIS may be associated with inflammatory complications, such as MIS-C, and admission to intensive care. It may also be considered a prognostic risk factor for severe disease. The hypothesized pathogenetic mechanisms of thyroid damage in COVID-19 include direct damage due to the significant expression of angiotensin-converting enzyme 2 (ACE2) in the thyroid gland, which is a ligand for the virus, and indirect damage due to immune dysregulation, such as the overproduction of IL-6, which is thought to be part of the pathogenesis of thyroiditis. CONCLUSION: However, due to the limited evidence available, further prospective longitudinal studies are required to clarify the relationship between COVID-19 and thyroid disease in children and adolescents, as well as to investigate any potential long-term consequences.


Asunto(s)
COVID-19 , Humanos , COVID-19/complicaciones , COVID-19/epidemiología , Niño , SARS-CoV-2 , Enfermedad de Hashimoto/epidemiología , Adolescente , Síndrome de Respuesta Inflamatoria Sistémica/epidemiología , Tiroiditis/epidemiología , Incidencia , Enfermedad de Graves/epidemiología , Enfermedad de Graves/complicaciones
3.
J Endocrinol Invest ; 47(7): 1585-1598, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38376731

RESUMEN

PURPOSE: Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process. METHODS: A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. RESULTS: A total of 41 consensus statements were drafted. The transition from pediatric to adult care is a critical period for patients with TS, necessitating tailored approaches and early disclosure of the diagnosis to promote self-reliance and healthcare autonomy. Fertility preservation and bone health strategies are recommended to mitigate long-term complications, and psychiatric evaluations are recommended to address the increased prevalence of anxiety and depression. The consensus also addresses the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS; regular screenings and interventions are advised to manage these conditions effectively. In addition, cardiac abnormalities, including aortic dissections, require regular monitoring and early surgical intervention if certain criteria are met. CONCLUSIONS: The TRAMITI consensus statement provides valuable insights and evidence-based recommendations to guide healthcare practitioners in delivering comprehensive and patient-centered care for patients with TS. By addressing the complex medical and psychosocial aspects of the condition, this consensus aims to enhance TS management and improve the overall well-being and long-term outcomes of these individuals.


The TRansition Age Management in Turner syndrome in Italy (TRAMITI) project aims to improve care for individuals with Turner Syndrome (TS) during their transition from pediatric to adult care. A team of 15 physicians and 1 psychologist collaborated to create a comprehensive set of 41 consensus statements, covering four key areas: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. The consensus statements highlight the importance of patient-centered care, early intervention and long-term monitoring. They emphasize a multidisciplinary approach to address the complex medical and psychosocial aspects of TS. During the critical transition period, tailored approaches and early disclosure of the diagnosis are recommended to promote self-reliance and healthcare autonomy. To mitigate long-term complications, the consensus addresses fertility preservation and bone health strategies. It also recommends psychological or psychiatric evaluations to tackle the increased prevalence of anxiety and depression in patients with TS. In addition, strategies for addressing the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS are proposed. Regular screenings and interventions are advised to effectively manage these conditions. Furthermore, cardiac abnormalities, including aortic dissections, require close monitoring and early surgical intervention if specific criteria are met. Overall, the TRAMITI consensus statement provides valuable insights and evidence-based recommendations. It offers guidance for healthcare practitioners in delivering comprehensive and patient-centered care for individuals with TS. By addressing both medical and psychosocial aspects, the consensus aims to enhance TS management and improve the well-being and long-term outcomes of those affected by this genetic disorder.


Asunto(s)
Consenso , Transición a la Atención de Adultos , Síndrome de Turner , Humanos , Síndrome de Turner/terapia , Síndrome de Turner/psicología , Italia/epidemiología , Transición a la Atención de Adultos/normas , Transición a la Atención de Adultos/organización & administración , Adulto , Femenino , Niño , Adolescente , Técnica Delphi
4.
HNO ; 68(3): 215-226, 2020 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-32095844

RESUMEN

Adenoidectomy, paracentesis, and tonsillar interventions are the most common operations in childhood. Hypertrophy of the lymphatic tissue of Waldeyer's ring can lead to individually distinct, acute, and chronic symptoms as well as anatomical and functional changes. When presented with affected children in otolaryngologic practice, the combination of parental interview, questionnaire-based screening for obstructive sleep apnea syndrome, and physical examination including ear microscopy, inspection of the oropharynx and, if necessary, the nasopharynx, has proven its worth. Audiometric diagnosis for detection of tympanic effusion should be mandatory. The treatment of choice is adenoidectomy, if necessary plus tonsillotomy and paracentesis with a tympanic tube insert. However, the indication remains controversial, as the effectiveness of the interventions seems to depend on the preoperative severity of symptoms. With a correct indication, effective symptom reduction, improvement in quality of life, and high parent satisfaction can be expected.


Asunto(s)
Adenoidectomía , Tonsila Faríngea , Tonsilectomía , Tonsila Faríngea/patología , Tonsila Faríngea/cirugía , Niño , Humanos , Hiperplasia/diagnóstico , Tonsila Palatina/patología , Calidad de Vida
5.
HNO ; 68(8): 566-572, 2020 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-32405680

RESUMEN

BACKGROUND: The question of the "true" function of the maxillary sinus and the paranasal sinuses (PS) has been a controversial issue in the literature for decades, leading to many discussions and speculations. OBJECTIVE: This review briefly summarizes various theories on the possible physiology and functions of the maxillary sinus/PS that have been discussed over the centuries. MATERIALS AND METHODS: A literature search was conducted in PubMed using a combination of the search terms "physiology," "function," "maxillary sinus," and "paranasal sinuses." RESULTS: Current and scientifically evidenced theories are described. "Sinusology" is the science of the PS. The maxillary sinuses might simply serve to improve the respiratory function of the nose. A flow of inspiratory air does not occur. The maxillary sinuses are decisively involved in the production of nitrogen monoxide (NO) and thus in supporting the immune defense of the nasal cavity. The mucosa of the maxillary sinus continuously synthesizes NO and serves as a reservoir of NO. Other important functions are protection of the orbit and the brain in case of skull fractures, as well as weight reduction of the skull. CONCLUSION: The various theories about the function of the PS still raise many questions and their true function is yet not fully understood. Possible functions of the maxillary sinuses are local immune defense through the production of NO. The PS serve as a crumple zone for vital cerebral structures in the context of craniocerebral traumas.


Asunto(s)
Seno Maxilar , Senos Paranasales , Fracturas Craneales , Humanos , Seno Maxilar/anatomía & histología , Seno Maxilar/fisiología , Cavidad Nasal
6.
Rhinology ; 57(5): 352-357, 2019 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-31162492

RESUMEN

BACKGROUND: Turbinoplasty is a common procedure in patients with nasal obstruction and hypertrophy of the nasal turbinates. A general recommendation regarding the necessity of turbinoplasty in functional rhinosurgery is still missing. For the first time, the value of turbinoplasty in septo- and septorhinoplasty regarding patient satisfaction as well as objective data in rhinomanometry and acoustic rhinometry was analyzed in a prospective randomized controlled trial. METHODOLOGY: 73 patients with nasal obstruction due to septal deviation and / or a deviated nose were included in the study. After randomization, anterior turbinoplasty was or was not performed during septo- or septorhinoplasty. Pre- and postoperative rhinomanometry and acoustic rhinometry were accomplished. NOSE© and SNOT 20 questionnaires were completed by the patients before and 9 months after surgery. Additionally, the patients were asked about their subjective satisfaction. RESULTS: 81% of the patients were subjectively satisfied with the postoperative improvement of nasal breathing. There was a significant improvement in the values of NOSE© and SNOT 20 questionnaires with no relevant difference between the two study groups. Acoustic rhinometry and rhinomanometry showed values in MCA1 and 2, Vol 1 and Vol 2 as well as higher nasal flows with no statistically significant difference between the two study groups. CONCLUSIONS: Patient satisfaction after functional septo- and septorhinoplasty is high and does not seem to be affected by turbinate surgery. There was no statistically significant difference in the postoperative results regarding objective rhinological measurements with or without turbinoplasty. As extensive resections of the turbinates can have a negative impact on nasal physiology, the indication for turbinoplasty must be considered carefully.


Asunto(s)
Obstrucción Nasal , Rinoplastia , Cornetes Nasales , Humanos , Obstrucción Nasal/cirugía , Tabique Nasal/cirugía , Estudios Prospectivos , Rinoplastia/métodos , Resultado del Tratamiento , Cornetes Nasales/cirugía
7.
HNO ; 67(5): 379-384, 2019 May.
Artículo en Alemán | MEDLINE | ID: mdl-30783730

RESUMEN

BACKGROUND: There is no established method to objectively measure the moisture status of nasal mucosa. In a pilot study it was shown that a nasal Schirmer test is a possible method. The aim of the current study was to check whether the nasal Schirmer test is suitable to define moisture status in cases with an expected pathological secretion. MATERIALS AND METHODS: Initially, 154 subjects participated, of whom n = 112 were included (healthy n = 65, deviated septum n = 47, ♂ 60, ♀ 52, median age 33 years). After evaluation of various test strips, the most suitable one was placed on both sides of the mucosa of the anterior septum. Secretion running distance (SRD) was measured in mm after 10 min. In addition, rhinomanometry (AAR) and acoustic rhinometry (AR) were performed. Healthy volunteers and subjects with septum deviation were compared, and subjects were also compared in terms of smoking behavior and age (<60 and ≥60 years). RESULTS: The total median SRD was 12 mm. SRDs between 9 and 14 mm were considered physiological. In non-smokers, SRD was significantly higher in all groups compared to smokers (p > 0.05). Nasal side, age, and deviated septum had no significant influence on SRD (p < 0.05). There were no correlations between SRD and AAR or AR. CONCLUSION: Our results confirm that a statement about moisture of the nasal mucosa is possible based on a nasal Schirmer test. Standard values of SRD are relevantly influenced by the respective test strip. Smoking is associated with a drier mucosa. Further investigations on the nasal Schirmer test in patients with expected atrophy of the nose, e. g., Sjogren's or empty nose syndrome, should be performed.


Asunto(s)
Mucosa Nasal , Obstrucción Nasal , Nariz/fisiología , Otolaringología/métodos , Adulto , Femenino , Humanos , Masculino , Mucosa Nasal/metabolismo , Tabique Nasal , Proyectos Piloto , Rinomanometría , Rinometría Acústica
8.
HNO ; 67(5): 373-378, 2019 May.
Artículo en Alemán | MEDLINE | ID: mdl-30767056

RESUMEN

OBJECTIVE: Partial resection of the caudal part of the inferior turbinate including the head is still performed in rhinosurgery ("stripe conchotomy"). However, extensive resections of the turbinate affect nasal airflow and intranasal conditioning. The aim of this study was to determine the effect of partial resection of the inferior turbinate including its head on intranasal air flow as well as warming and humidification of the inspired air by means of computational fluid dynamics. MATERIALS AND METHODS: A bilateral, realistic nasal model was created based on the CT scan of a patient. A unilateral partial resection of the lower turbinate on the right side had been performed externally. A numerical simulation was performed to analyze intranasal air flow patterns, temperature, and humidity distribution of the inspired air. RESULTS: Due to the partial resection of the lower turbinate on the right side, the flow pattern was significantly altered compared to the opposite side. Resection leads to a centered and higher velocity in the inferior nasal meatus as well as to reduced heating and humidification of the inhaled air compared to the untouched left nasal cavity. CONCLUSION: Partial resection of the caudal part of the inferior turbinate may lead to disturbed intranasal conditioning of inspired air if performed too radically. Therefore, if possible, this procedure should be avoided and a more gentle mucosal procedure chosen.


Asunto(s)
Procedimientos Quírurgicos Nasales , Cornetes Nasales , Humanos , Humedad , Cavidad Nasal , Temperatura , Cornetes Nasales/cirugía
9.
HNO ; 66(4): 280-289, 2018 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-29222682

RESUMEN

The human nose takes primary responsibility for preconditioning inhaled air. Numerous pathologies can affect the physiology of the nose. The beginnings of flow analyzes were carried out with three-dimensional casting models and differently colored liquids. Temperature and humidity could not be taken into account. Today, much more complex analyzes are possible using computational fluid dynamics (CFD), which are based on three-dimensional models generated from computed tomography (CT) or magnetic resonance imaging (MRI) datasets. Here, flow velocities, temperature, humidity, and pressure differences can be simulated and displayed in high-resolution videos as a function of multiple boundary conditions. The analysis of pathological changes or surgical interventions is thereby possible.


Asunto(s)
Hidrodinámica , Nariz , Simulación por Computador , Humanos , Imagenología Tridimensional , Imagen por Resonancia Magnética , Modelos Anatómicos , Nariz/diagnóstico por imagen , Nariz/fisiología , Tomografía Computarizada por Rayos X
10.
Br J Surg ; 104(2): e172-e181, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28121031

RESUMEN

BACKGROUND: Bacterial infection in patients with liver failure can lead to a dramatic clinical deterioration. The indications for liver transplantation and outcome in these patients is still controversial. METHODS: All adult patients who underwent liver transplantation between 1 January 2010 and 31 December 2015 were selected from an institutional database. Characteristics of the donors and recipients, and clinical, biochemical and surgical parameters were retrieved from the database. Post-transplant survival rates and complications, including grade III-IV complications according to the Dindo-Clavien classification, were compared between patients with an infection 1 month before transplantation and patients without an infection. RESULTS: Eighty-four patients with an infection had statistically significant higher Model for End-stage Liver Disease (MELD), D-MELD and Balance of Risk (BAR) scores and a higher rate of acute-on-chronic liver failure compared with findings in 343 patients with no infection. The rate of infection after liver transplantation was higher in patients who had an infection before the operation: 48 per cent versus 30·6 per cent in those with no infection before transplantation (P = 0·003). The percentage of patients with a postoperative complication (42 versus 40·5 per cent respectively; P = 0·849) and the 90-day mortality rate (8 versus 6·4 per cent; P = 0·531) was no different between the groups. Multivariable analysis showed that a BAR score greater than 18 and acute-on-chronic liver failure were independent predictors of 90-day mortality. CONCLUSION: Bacterial infection 1 month before liver transplantation is related to a higher rate of infection after transplantation, but does not lead to a worse outcome.


Asunto(s)
Infecciones Bacterianas/epidemiología , Trasplante de Hígado/mortalidad , Insuficiencia Hepática Crónica Agudizada/cirugía , Adolescente , Adulto , Anciano , Infecciones Bacterianas/microbiología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Análisis Multivariante , Complicaciones Posoperatorias , Periodo Preoperatorio , Reoperación , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Adulto Joven
11.
HNO ; 65(11): 916-922, 2017 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-28699038

RESUMEN

BACKGROUND: Septal surgery (SP) is one of the most frequently performed operations in Germany and thus represents a high cost burden for the health system. However, sufficient data on postoperative patient satisfaction and objective indication criteria for surgery are still lacking. OBJECTIVE: This study aimed to determine postoperative patient satisfaction and possible factors influencing the subjective success of SP, in order to optimize preoperative indication establishment. MATERIALS AND METHODS: A total of 600 questionnaires were sent by mail, resulting in inclusion of 238 patients (60 female, 178 male) who had received SP. The questionnaires were retrospectively evaluated using validated questionnaires (NOSE-D, SNOT-20-GAV) as well as a self-designed questionnaire regarding patients' subjective satisfaction after SP. Clinical data were collected from the electronic patient record. RESULTS: Follow-up was between 2 and 11 years. The main symptom for SP was difficult nasal breathing in 89% (212 of 238) of patients. In total, 68% (161) were satisfied with the outcome of surgery and 73% (172) of the patients would opt for SP again. The scores of the visual analog scales for nasal breathing, smell, nasal secretion, physical performance, use of nose drops, and headache were statistically significantly improved postoperatively. Additionally, the analysis of Nose-D and SNOT-20-GAV questionnaires presented a significant improvement in scores. Surprisingly, patients with a prolonged duration of septal splints were more satisfied. Previous nasal surgery had no significant influence. CONCLUSION: SP leads to a high degree of patient satisfaction, if the indication for surgery is correct. The main complaint of patients should be "difficult" nasal breathing. SP leads to a significant improvement in preoperative symptoms.


Asunto(s)
Obstrucción Nasal , Satisfacción del Paciente , Rinoplastia , Femenino , Alemania , Humanos , Masculino , Obstrucción Nasal/cirugía , Tabique Nasal , Estudios Retrospectivos , Encuestas y Cuestionarios , Resultado del Tratamiento
12.
HNO ; 65(2): 134-140, 2017 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-28078407

RESUMEN

BACKGROUND: Cardiorespiratory polysomnography (PSG) is considered the reference method for diagnosis of obstructive sleep apnea (OSA). Due to waiting times and high costs, payers increasingly request outpatient polygraphy (PG) as an alternative to inpatient PSG. The aim of the present study was to evaluate the diagnostic accuracy of different outpatient PG devices compared to stationary PSG in clinical practice. MATERIALS AND METHODS: Externally collected outpatient PG findings of 406 patients were retrospectively compared with the corresponding PSG findings. RESULTS: Among the 406 patients were 343 men (85%) and 63 women (15%), with mean age 50 years. Mean body mass index (BMI) was 30 kg/m2. The rank correlation coefficient for PG- and PSG- derived apnea-hypopnea index (AHI) values was r = 0.574. On average, PG underestimated the AHI by 6.4 (±20.5) events/h. OSAS severity was determined correctly by PG in only 43% of cases. Sensitivity (90.7%) and specificity (45.2%) of ambulatory PG was calculated for the threshold value AHI ≥ 5/h. Based on the results of PG, an indicated therapy would have been omitted in 35 cases (9%) and unnecessary treatment initiated in 17 cases (4%). The PG devices used showed a comparable diagnostic accuracy (r = 0.513-0.657), with a sensitivity of 81.3-96.9% and a specificity of 33.3-50.0%. CONCLUSION: Outpatient PG cannot reliably assess OSA severity in clinical routine. Confirmation by PSG in a sleep lab in symptomatic patients is obligatory. Outpatient PG devices should only be used as an upstream screening method. The automatic evaluation of the PG should always be proofed.


Asunto(s)
Atención Ambulatoria/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Polisomnografía/instrumentación , Polisomnografía/estadística & datos numéricos , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología , Atención Ambulatoria/métodos , Diseño de Equipo , Análisis de Falla de Equipo , Femenino , Alemania/epidemiología , Humanos , Masculino , Polisomnografía/métodos , Prevalencia , Reproducibilidad de los Resultados , Factores de Riesgo , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad
13.
Vet Pathol ; 52(1): 83-91, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24503437

RESUMEN

Porcine melanomas have proven interesting in a wider biological perspective due to a common phenomenon of spontaneous regression, which is characterized by infiltration of macrophages, among others. Separation of neoplastic melanocytes from pigment-laden macrophages may, however, be challenging as the morphology of melanocytes varies considerably and sometimes resembles macrophages. The aim of this study was correspondingly to characterize and differentiate the cells in 20 porcine melanocytomas and regional lymph nodes by histologic examination and immunohistochemistry for melan A, PNL2, S100, lysozyme, alpha-1-antitrypsin, and ionized calcium binding adaptor molecule 1 (Iba1). Grossly, the melanocytomas were divided into 2 distinct types: pigmented maculae (n = 7) and raised tumors (n = 13). In the maculae, the pigmented cells were mainly melanocytes reactive for melan A, PNL2 and S100. In contrast, the majority of the cells in the raised tumors were melanophages, which expressed Iba1, alpha-1-antitrypsin, and lysozyme. Yet, cells histomorphologically indistinguishable from the melanophages expressed melan A and PNL2. These cells were Iba1 and S100 negative, and ultrastructurally, they were devoid of lysosomal bodies and filled with stage III and IV melanosomes. In the regional lymph nodes, melanocytes were present in the trabecular sinuses. In focally or diffusely black lymph nodes, pigmentation was, however, mainly due to aggregates of melanophages, which were confined to the trabeculae, deep cortex, and peripheral lymphoreticular tissue. Normal and neoplastic porcine melanocytes express melan A and PNL2, and immunohistochemical staining for melan A, PNL2, and Iba1 was found useful to identify and distinguish melanocytes and melanophages in porcine melanotic lesions.


Asunto(s)
Biomarcadores de Tumor/metabolismo , Melanoma/veterinaria , Neoplasias Cutáneas/veterinaria , Enfermedades de los Porcinos/patología , Mataderos , Animales , Diferenciación Celular , Inmunohistoquímica/veterinaria , Ganglios Linfáticos/metabolismo , Ganglios Linfáticos/patología , Macrófagos/metabolismo , Macrófagos/patología , Melanocitos/metabolismo , Melanocitos/patología , Melanoma/metabolismo , Melanoma/patología , Melanosomas/metabolismo , Melanosomas/patología , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Porcinos , Enfermedades de los Porcinos/metabolismo
14.
Community Ment Health J ; 50(8): 981-6, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24563137

RESUMEN

A survey about history of non-fatal suicidal behaviour was performed on 1,171 subjects in the waiting room of general practitioners' practices in the territory of Rovigo (Northern Italy). The mean age of interviewed subjects was 52.9 ± 17.0, with a majority of female individuals. Two and two percent admitted previous experience of non-suicidal self-injury, 4.7 % admitted having had serious suicidal thoughts/plans, and 1.8 % reported at least one suicide attempt. Compared to the rest of the sample, people with history of suicidal behaviours resulted to be of younger age (p < .05), whilst their level of well-being was poorer (p < .001). When compared to the results of the Italian arm of the European Study of the Epidemiology of Mental Disorders, carried out on general population samples, the present study produces higher rates of suicidality, despite the much higher mean age of the interviewed subjects compared to the general population.


Asunto(s)
Conducta Autodestructiva/epidemiología , Ideación Suicida , Intento de Suicidio/estadística & datos numéricos , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Antipsicóticos/uso terapéutico , Femenino , Medicina General , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Distribución por Sexo , Encuestas y Cuestionarios , Adulto Joven
15.
Vet Pathol ; 50(3): 534-42, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23242804

RESUMEN

Tumors of the adrenal glands are among the most frequent tumors in cattle; however, few studies have been conducted to describe their characteristics. The aim of this study was to classify 41 bovine adrenal neoplasms from 40 animals based on macroscopic and histologic examination, including electron microscopy and immunohistochemistry for melan A, synaptophysin, chromogranin A, vimentin, pan-cytokeratin, 2',3'-cyclic nucleotide-3'-phosphohydrolase (CNPase), and Ki-67. The tumors were classified as 23 adrenocortical adenomas, 12 adrenocortical carcinomas, 2 schwannomas, 2 pheochromocytomas (1 malignant), and 1 ganglioneuroma. Five histologic features were characteristic of metastasizing adrenocortical tumors: invasion of the capsule, vascular invasion, diffuse growth pattern, spindle-cell morphology, and nuclear pleomorphism. Adrenocortical tumors with at least 3 of these features were classified as malignant. Immunohistochemically, adrenocortical tumors expressed melan A (16/19), vimentin (14/26), cytokeratin (11/26), and chromogranin A (9/27), whereas pheochromocytomas expressed chromogranin A (2/2), synaptophysin (2/2), and vimentin (1/2). Both schwannomas expressed CNPase. An immunohistochemistry panel consisting of antibodies against melan A, synaptophysin, and CNPase was considered most useful to classify bovine adrenal tumors. However, the distinction between benign and malignant adrenocortical tumors was based on histologic features as in human medicine.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/veterinaria , Adenoma Corticosuprarrenal/veterinaria , Carcinoma Corticosuprarrenal/veterinaria , Biomarcadores de Tumor/metabolismo , Enfermedades de los Bovinos/clasificación , 2',3'-Nucleótido Cíclico Fosfodiesterasas/metabolismo , Mataderos , Neoplasias de la Corteza Suprarrenal/clasificación , Neoplasias de la Corteza Suprarrenal/patología , Neoplasias de la Corteza Suprarrenal/veterinaria , Neoplasias de las Glándulas Suprarrenales/clasificación , Neoplasias de las Glándulas Suprarrenales/patología , Glándulas Suprarrenales/patología , Glándulas Suprarrenales/ultraestructura , Adenoma Corticosuprarrenal/clasificación , Adenoma Corticosuprarrenal/patología , Carcinoma Corticosuprarrenal/clasificación , Carcinoma Corticosuprarrenal/patología , Animales , Bovinos , Enfermedades de los Bovinos/patología , Cromogranina A/metabolismo , Dinamarca , Humanos , Inmunohistoquímica/veterinaria , Queratinas/metabolismo , Antígeno MART-1/metabolismo , Microscopía Electrónica/veterinaria , Sinaptofisina/metabolismo , Vimentina/metabolismo
16.
Front Genet ; 14: 1031074, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37609037

RESUMEN

Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made difficult by poor knowledge of clinical manifestation, and lack of any confirmatory tests. Children with ROHHAD usually present with rapid onset weight gain which may be followed, over months or years, by hypothalamic dysfunction, hypoventilation, autonomic dysfunction, including impaired bowel motility, and tumors of neural crest origin. Despite the lack of evidence of inheritance in ROHHAD, several studies have been conducted in recent years that have explored possible genetic origins, with unsuccessful results. In order to broaden the search for possible genetic risk factors, an attempt was made to analyse the non-coding variants in two trios (proband with parents), recruited in the Gaslini Children's Hospital in Genoa (Italy). Both patients were females, with a typical history of ROHHAD. Gene variants (single nucleotide variants, short insertions/deletions, splice variants or in tandem expansion of homopolymeric tracts) or altered genomic regions (copy number variations or structural variants) shared between the two probands were searched. Currently, we have not found any potentially pathogenic changes, consistent with the ROHHAD clinical phenotype, and involving genes, regions or pathways shared between the two trios. To definitively rule out the genetic etiology, third-generation sequencing technologies (e.g., long-reads sequencing, optical mapping) should be applied, as well as other pathways, including those associated with immunological and autoimmune disorders, should be explored, making use not only of genomics but also of different -omic datasets.

17.
J Endocrinol Invest ; 34(4): e86-91, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20855933

RESUMEN

OBJECTIVE: To investigate whether body mass index (BMI) and body composition can affect peak bone mass in a population of obese (OB) (BMI SDS>2.0) and normal weight (NORM) (BMI-SD score <2.0) pubertal subjects (Tanner stage T3 to T5). PATIENTS AND METHODS: 151 subjects (81 OB, age 14.5±2.4 yr) were analyzed using dual-X-ray absorbiometry technique to study Lumbar and whole body bone mineral density (BMD) (areal, normalized for height) and Z-score, lean mass (LM) and lean/fat ratio. RESULTS: As a whole group, OB males did not show any significant difference in bone parameters vs NORM, while OB females showed higher bone density parameters (p<0.05). When grouped according to T, while OB males showed higher bone density at T3-4 stage (p<0.01), and lower at T5 (p<0.01) compared to NORM, OB females showed a tendency through increased BMD at T3-4 and T5 although statistically different only at T5. BMD was independently correlated to LM, lean/fat ratio, and testosterone in NORM males and, at lower level, in OB males, while to LM in NORM females and only to age in OB females. CONCLUSION: Our data seem to confirm the possible negative influence of obesity on bone density in boys, a possible explanation could be an unfavorable body composition during sexual maturation that seems not to affect bone development in adolescents girls.


Asunto(s)
Composición Corporal , Índice de Masa Corporal , Densidad Ósea , Obesidad , Pubertad/fisiología , Caracteres Sexuales , Absorciometría de Fotón , Adolescente , Desarrollo Óseo/fisiología , Estradiol/sangre , Femenino , Humanos , Masculino , Testosterona/sangre
18.
Clin Microbiol Infect ; 26(3): 271-280, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31751768

RESUMEN

BACKGROUND: Timely detection of antimicrobial (cephalosporin/carbapenem) resistance (AMR) determinants is crucial to the clinical management of bloodstream infections caused by Gram-negative bacteria (GNB). OBJECTIVES: To review and meta-analyse the evidence for using commercially available molecular tests for the direct detection of AMR determinants in GNB-positive blood cultures (PBCs). DATA SOURCES: PubMed, Scopus and ISI Web of Knowledge. STUDY ELIGIBILITY CRITERIA: Clinical studies evaluating the performance of two major commercial systems, namely the Verigene® and FilmArray® systems, for rapid testing of GNB-PBCs, in comparison with the phenotypic or genotypic methods performed on GNB-PBC isolates. METHODS: Literature search according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria and, for meta-analysis of sensitivity and specificity of both systems, bivariate random-effects model. RESULTS: Twenty studies were identified (3310 isolates) from 2006 to 2019. Nine studies were conducted in East Asia. In 15 studies using phenotypic comparators (1930 isolates), 1014 (52.5%) isolates were Escherichia coli, and 287 (14.9%) of all the isolates displayed AMR phenotypes. In five studies using genotypic comparators (1380 isolates), 585 (42.4%) were E. coli, and 100 (7.2%) of all the isolates displayed AMR genotypes. Pooled sensitivity and specificity estimates for detection of AMR determinants by the Verigene (i.e. CTX-M, IMP, KPC, NDM, OXA and VIM) and/or FilmArray (i.e. KPC) systems were 85.3% (95% CI 79.9%-89.4%) and 99.1% (95% CI 98.2%-99.5%), respectively, across the 15 studies, and 95.5% (95% CI 89.2%-98.2%) and 99.7% (95% CI 99.1%-99.9%), respectively, across the five studies. CONCLUSIONS: Our findings show that the Verigene and FilmArray systems may be a valid adjunct to the conventional microbiology (phenotypic or genotypic) methods used to identify AMR in GNBs. The FilmArray system detects only one AMR genotype, namely KPC, limiting its use. Both Verigene and FilmArray systems can miss important cephalosporin/carbapenem resistance phenotypes in a minority of cases. However, the sensitivity and specificity of both systems render them valuable clinical tools in timely identification of resistant isolates. Further studies will establish the prominence of such rapid diagnostics as standard of care in individuals with bloodstream infections.


Asunto(s)
Bacteriemia , Farmacorresistencia Bacteriana , Bacterias Gramnegativas/efectos de los fármacos , Bacterias Gramnegativas/genética , Infecciones por Bacterias Gramnegativas/diagnóstico , Infecciones por Bacterias Gramnegativas/microbiología , Técnicas de Diagnóstico Molecular , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Antiinfecciosos , Toma de Decisiones Clínicas , Manejo de la Enfermedad , Infecciones por Bacterias Gramnegativas/tratamiento farmacológico , Humanos , Pruebas de Sensibilidad Microbiana , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
19.
J Immigr Minor Health ; 22(3): 588-596, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31165366

RESUMEN

Dissociative experiences are common in traumatized individuals who can use dissociation as a psychological escape from emotional and physical distress associated with overwhelming traumatic events. Traumatic experiences and the cultural interpretation of trauma-related symptoms often serve to explain the wide range of dissociative phenomenology; in fact, dissociation is a complex and ubiquitous construct present in a variety of mental disorders. The Six-Dimensions Model of National Culture has been used as a tool to compare patients' different cultural background that could have accounted for the different clinical manifestations. This paper reports three clinical cases in which the focus of interest is represented by the dissociative alterations of consciousness, as a response to trauma, specifically related to migration, and their correlation with cultural environment. The study shows as Hofstede's model has been used for the first time as a tool to explain how different cultural background could shape clinical manifestations.


Asunto(s)
Cultura , Trastornos Disociativos/etiología , Emigrantes e Inmigrantes/psicología , Emigración e Inmigración , Modelos Teóricos , Trastornos por Estrés Postraumático/complicaciones , Adolescente , Adulto , Femenino , Humanos , Masculino , Adulto Joven
20.
Int J Immunopathol Pharmacol ; 22(3): 699-706, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19822086

RESUMEN

Dental pulp is a heterogeneous microenviroment where unipotent progenitor and pluripotent mesenchymal stem cells cohabit. In this study we investigated whether human dental pulp stromal (stem) cells (DP-SCs) committed to the angiogenic fate. DP-SCs showed the specific mesenchymal immunophenotypical profile positive for CD29, CD44, CD73, CD105, CD166 and negative for CD14, CD34, CD45, in accordance with that reported for bone marrow-derived SCs. The Oct-4 expression in DP-SCs, evaluated through RT-PCR analysis, increased in relation with the number of the passages in cell culture and decreased after angiogenic induction. In agreement with their multipotency, DP-SCs differentiated toward osteogenic and adipogenic commitments. In angiogenic experiments, differentiation of DP-SCs, through vascular endothelial growth factor (VEGF) induction, was evaluated by in vitro matrigel assay and by cytometric analysis. Accordingly, endothelial-specific markers like Flt-1 and KDR were basally expressed and they increased after exposure to VEGF together with the occurrence of ICAM-1 and von Willebrand factor positive cells. In addition, VEGF-induced DP-SCs maintained endothelial cell-like features when cultured in a 3-D fibrin mesh, displaying focal organization into capillary-like structures. The DP-SC angiogenic potential may prove a remarkable tool for novel approaches to developing tissue-engineered vascular grafts which are useful when vascularization of ischemic tissues is required.


Asunto(s)
Células Madre Adultas/fisiología , Pulpa Dental/fisiología , Células Endoteliales/fisiología , Células Madre Mesenquimatosas/fisiología , Neovascularización Fisiológica , Células del Estroma/fisiología , Ingeniería de Tejidos , Adulto , Células Madre Adultas/inmunología , Células Madre Adultas/metabolismo , Biomarcadores/metabolismo , Diferenciación Celular , Linaje de la Célula , Separación Celular , Células Cultivadas , Pulpa Dental/citología , Pulpa Dental/inmunología , Pulpa Dental/metabolismo , Células Endoteliales/inmunología , Células Endoteliales/metabolismo , Fibrina/metabolismo , Citometría de Flujo , Humanos , Inmunofenotipificación , Molécula 1 de Adhesión Intercelular/metabolismo , Masculino , Microscopía Electrónica de Transmisión , Factor 3 de Transcripción de Unión a Octámeros/genética , ARN Mensajero/metabolismo , Receptores de Factores de Crecimiento Endotelial Vascular/metabolismo , Células del Estroma/inmunología , Células del Estroma/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Factor de von Willebrand/metabolismo
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