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1.
Children (Basel) ; 11(2)2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38397334

RESUMO

Information obtained from children themselves regarding the characteristics of the ideal hospital that ensure well-being during a hospital stay is scarce. Here, we report the opinions, perceptions, and expectations of 700 children and adolescents about their experiences, assessed through a mixed-method research approach with age-appropriate questionnaires, three open-ended questions, and an analysis of optional pictorial and textual narratives. Most children indicated that, while they acknowledged the expertise of hospital staff, they also noted several shortcomings, e.g., insufficiently understandable medical information as well as emotional and cognitive support. The continuity of schooling and the right to suffer as little as possible were also critical issues. Adolescents valued in particular the quality of care and services provided, the hospital's adherence to equality and non-discrimination rights, and protection systems but negatively perceived several aspects related to play and participation. Significant differences in the co-occurrences of the most frequently used text terms with the keywords "hospital" and "child/adolescent" between age groups highlight variations in the way patients perceive and articulate their experiences within the hospital setting depending on the cognitive processes linked to age. In drawings, prevailing attention was placed on the physical context of the hospital room, with figures expressing mostly negative emotions. Specifically, in this regard, the main emotion in children was sadness, and, in adolescents, it was fear. Overall, these insights are pivotal in the context of our research objectives as they shed light on the nuanced preferences, needs, and perspectives of children and adolescents during their hospital stays. Recognizing the identified shortcomings, we propose recommendations emphasizing the improvement of medical communication clarity, enhancement of emotional and cognitive support, and the improvement of programs to avoid instructional gaps during hospital stays. Addressing these specific needs is critical for a more comprehensive approach to pediatric healthcare provision.

2.
Pediatr Rep ; 14(1): 131-139, 2022 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-35324822

RESUMO

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder.

3.
JPGN Rep ; 3(4): e270, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37168485

RESUMO

Consumptive hypothyroidism (CH) is a rare and potentially overlooked complication of hepatic hemangiomas (HH) overexpressing the enzyme deiodinase, which converts thyroxine (T4) to reverse triiodothyronine (rT3). Materials and methods: Here, we report a case series of 3 patients and a systematic review of the literature. Results: Hypothyroidism (mean serum TSH 52.03 mIU/L) was detected at a mean age of 4.6 months (range 3-6) in 3 infants with infantile hepatic hemangiomas, treated with thyroxine (mean dose 12 µg/kg/day). All received treatment with propranolol (1-3 mg/kg/day) from the mean age of 4 months. Hormonal treatment was stopped at a mean age of 20 months (range 12-30). Hypothyroidism reoccurred in a patient concurrently with the increase of liver lesions, requiring liver transplantation (LT) at age 39 months.Literature review retrieved 42 studies (48 patients): HH (n = 43) were isolated in 24 infants and associated with cutaneous hemangiomas in 19. Hemangiomas were only cutaneous in 5.In the first 43 patients, hypothyroidism was detected at a mean age of 1 month; 21 of 43 patients were prescribed propranolol alone (n = 8) or associated with other medicaments (n = 13); 2 of 43 patients underwent LT. Hormonal treatment consisted of T4 in 35 of 43 patients and T3 in 10.CH associated with only cutaneous and extrahepatic visceral hemangiomas (n = 5), detected at a mean age of 7 months (TSH mean levels at diagnosis of 150.3 mIU/L). Three of 5 patients received treatment with propranolol ± other medicaments. All 5 patients were treated with T4. Conclusions: Periodical thyroid function assessment is necessary in patients with hepatic hemangiomas, particularly when lesions' size and number increase rapidly.

4.
Eur J Pediatr ; 181(1): 171-187, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34232366

RESUMO

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10-26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG's abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known • Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability • Immune dysfunction is a common finding but autoimmune diseases are rarely seen • Neurological features are common What is New • Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus) • Higher prevalence of autoimmune disorders than previously reported • Particular neurological features are present in this cohort (EEG and MRI brain abnormalities).


Assuntos
Anormalidades Múltiplas , Doenças Hematológicas , Doenças Vestibulares , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adolescente , Adulto , Criança , Face/anormalidades , Feminino , Doenças Hematológicas/epidemiologia , Humanos , Masculino , Estudos Retrospectivos , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/epidemiologia , Adulto Jovem
5.
Orphanet J Rare Dis ; 16(1): 499, 2021 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-34857025

RESUMO

BACKGROUND: Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of bleeding disorders in patients with RASopathies and evaluate any significant association with laboratory findings. PATIENTS AND METHODS: Forty-nine individuals (PTPN11, n = 27; SOS1, n = 7; RIT1, n = 3; SPRED1, n = 1; LZTR1, N = 3; RAF1, n = 2; BRAF, n = 4; MEK1, n = 1; MEK2, n = 1), and 49 age- and sex-matched controls were enrolled. The "Paediatric Bleeding Questionnaire Scoring Key" was administered to patients and families. Laboratory screening tests including clotting factors dosing, platelet count, Prothrombin Time and Partial Thromboplastin Time, were employed both in patients and controls to characterize the bleeding diathesis. A subgroup of 29/49 patients and 29/49 controls was also tested for platelet function. RESULTS: Regardless of the gene involved, pathological paediatric bleeding scores were recorded in 14/49 (28.5%) patients. Indeed, 7 were mutated in PTPN11, 3 in SOS1, 2 in RIT1, 1 in BRAF, and 1 in MEK1. Compared to patients with normal bleeding scores, those with pathologic bleeding score showed higher prevalence of splenomegaly (p = 0.006), prolonged aPTT (p = 0.04), lower levels of coagulation factor V (FV, p = 0.001), FVII (p = 0.003), FX (p = 0.0008) and FXIII (p = 0.002), higher vWAg (p = 0.04), and lower platelet sensitivity to Ristocetin (p = 0.001), arachidonic acid (AA) (p = 0.009) and collagen (p = 0.01). The presence of hematomas inversely correlated with factor V (p = 0.002), factor VII (p = 0.003), factor X (p = 0.002) and factor XIII (p = 0.004) levels, and directly correlated with platelet response to collagen (p = 0.02) and AA (p = 0.01). The presence of splenomegaly directly correlated with the presence of hematoma (p = 0.006), platelet response to Ristocetin (p = 0.04) and AA (p = 0.04), and inversely correlated with factor V levels (p = 0.03). CONCLUSIONS: Patients with RASopathies and a bleeding tendency exhibit multiple laboratory abnormalities, including platelet-related disorders. Splenomegaly is frequently detected and might be a suggestive sign for qualitative platelet dysfunction. A comprehensive clinical assessment should be carried out at diagnosis, during the follow-up and before any surgical procedures. Since there is currently no consensus on management of bleeding complications, it is important that physicians closely monitor these patients.


Assuntos
Hemostáticos , Síndrome de Noonan , Testes de Coagulação Sanguínea/efeitos adversos , Testes de Coagulação Sanguínea/métodos , Plaquetas , Criança , Hemorragia , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Fatores de Transcrição
6.
Clin Genet ; 100(5): 563-572, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34346503

RESUMO

Neurofibromatosis 1 (NF1) is a disorder characterized by variable expressivity caused by loss-of-function variants in NF1, encoding neurofibromin, a protein negatively controlling RAS signaling. We evaluated whether concurrent variation in proteins functionally linked to neurofibromin contribute to the variable expressivity of NF1. Parallel sequencing of a RASopathy gene panel in 138 individuals with molecularly confirmed clinical diagnosis of NF1 identified missense variants in PTPN11, encoding SHP2, a positive regulator of RAS signaling, in four subjects from three unrelated families. Three subjects were heterozygous for a gain-of-function variant and showed a severe expression of NF1 (developmental delay, multiple cerebral neoplasms and peculiar cortical MRI findings), and features resembling Noonan syndrome (a RASopathy caused by activating variants in PTPN11). Conversely, the fourth subject, who showed an attenuated presentation, carried a previously unreported PTPN11 variant that had a hypomorphic behavior in vitro. Our findings document that functionally relevant PTPN11 variants occur in a small but significant proportion of subjects with NF1 modulating disease presentation, suggesting a model in which the clinical expression of pathogenic NF1 variants is modified by concomitant dysregulation of protein(s) functionally linked to neurofibromin. We also suggest targeting of SHP2 function as an approach to treat evolutive complications of NF1.


Assuntos
Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Imageamento por Ressonância Magnética , Mutação , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Adolescente , Criança , Análise Mutacional de DNA , Família , Feminino , Genes da Neurofibromatose 1 , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Modelos Moleculares , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Conformação Proteica , Proteína Tirosina Fosfatase não Receptora Tipo 11/química , Proteína Tirosina Fosfatase não Receptora Tipo 11/metabolismo , Relação Estrutura-Atividade
7.
Pediatr Rep ; 13(3): 357-362, 2021 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-34287369

RESUMO

Hypertransaminasemia in patients with Kawasaki disease (KD) is reported to be transient. Here, we describe a child with an atypically protracted course of liver tests abnormalities and review the inherent literature. The patient was hospitalized at age 7-months for isolated hypertransaminasemia detected during a classical KD diagnosed 3 months before, and persistent since then. KD clinical evolution had been favorable, with rapid response to acetylsalicylic acid and intravenous immunoglobulins. Liver enzymes however remained persistently elevated with a fluctuating pattern (ALT > AST levels; peak of AST 186 IU/L and ALT 240 IU/L). During follow-up, the main causes of liver dysfunction had to be excluded through appropriate and extensive laboratory investigations. Transaminases values become steadily normal only 7 months after the acute presentation of KD. Conclusions: Our report shows that an atypically protracted courses of KD-related hypertransaminasemia above the previously reported temporal limits should be taken into account during the stepwise diagnostic approach to the patient's liver dysfunction. Insidious acetylsalycilic acid-hepatotoxicity warrants consideration in the differential diagnosis.

8.
Front Pediatr ; 9: 672004, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34041209

RESUMO

Diagnosis of pediatric steatohepatitis is a challenging issue due to a vast number of established and novel causes. Here, we report a child with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) presenting with an underrated muscle weakness, exercise intolerance and an atypically severe steatotic liver involvement. A systematic literature review of liver involvement in MADD was performed as well. Our patient is a 11-year-old otherwise healthy, non-obese, male child admitted for some weakness/asthenia, vomiting and recurrent severe hypertransaminasemia (aspartate and alanine aminotransferases up to ×20 times upper limit of normal). Hepatic ultrasound showed a bright liver. MRI detected mild lipid storage of thighs muscles. A liver biopsy showed a micro-macrovacuolar steatohepatitis with minimal fibrosis. Main causes of hypertransaminasemia were ruled out. Serum aminoacids (increased proline), acylcarnitines (increased C4-C18) and a large excretion of urinary glutaric acid, ethylmalonic, butyric, isobutyric, 2-methyl-butyric and isovaleric acids suggested a diagnosis of MADD. Serum acylcarnitines and urinary organic acids fluctuated overtime paralleling serum transaminases during periods of illness/catabolic stress, confirming their recurrent nature. Genetic testing confirmed the diagnosis [homozygous c.1658A > G (p.Tyr553Cys) in exon 12 of the ETFDH gene]. Lipid-restricted diet and riboflavin treatment rapidly ameliorated symptoms, hepatic ultrasonography/enzymes, and metabolic profiles. Literature review (37 retrieved eligible studies, 283 patients) showed that liver is an extramuscular organ rarely involved in late-onset MADD (70 patients), and that amongst 45 patients who had fatty liver only nine had severe presentation. Conclusion: MADD is a disorder with a clinically heterogeneous phenotype. Our study suggests that MADD warrants consideration in the work-up of obesity-unrelated severe steatohepatitis.

9.
Orphanet J Rare Dis ; 16(1): 179, 2021 04 14.
Artigo em Inglês | MEDLINE | ID: mdl-33853651

RESUMO

BACKGROUND: ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non-syndromic, neonatal-onset intrahepatic chronic cholestasis possibly associated to cilia dysfunction. Herein, we report a new case with further studies of whole exome sequencing (WES) and immunofluorescence in primary cilia of her cultured fibroblasts which confirm the observation. RESULTS: A now 5-year-old girl born to clinically healthy consanguineous Moroccan parents was assessed at 59 days of life due to severe cholestatic jaundice with increased serum bile acids and GGT, and preserved hepatocellular synthetic function. Despite fibrosis/cirrhosis and biliary ducts proliferation on liver biopsy suggested an extrahepatic biliary obstacle, normal intra-operatory cholangiography excluded biliary atresia. Under choleretic treatment, she maintained a clinically stable anicteric cholestasis but developped hyperlipidemia. After exclusion of the main causes of cholestasis by multiple tests, abnormal concentrations of sterols and WES led to a diagnosis of hereditary sitosterolemia (OMIM #618666), likely unrelated to her cholestasis. Further sequencing investigation revealed a homozygous non-sense mutation (p.Arg223Ter) in ZFYVE19 leading to a 222 aa truncated protein and present in both heterozygous parents. Immunofluorescence analysis of primary cilia on cultured skin fibroblasts showed a ciliary phenotype mainly defined by fragmented cilia and centrioles abnormalities. CONCLUSIONS: Our findings are consistent with and expands the recent evidence linking ZFYVE19 to a novel, likely non-syndromic, high GGT-PFIC phenotype with neonatal onset. Due to the possible role of ZFYVE19 in cilia function and the unprecedented coexistence of a coincidental hereditary sterol disorder in our case, continuous monitoring will be necessary to substantiate type of liver disease progression and/or possible emergence of a multisystemic involvement. What mentioned above confirms that the application of WES in children with undiagnosed cholestasis may lead to the identification of new causative genes, widening the knowledge on the pathophysiology.


Assuntos
Colestase Intra-Hepática , Colestase , Proteínas Oncogênicas/genética , Pré-Escolar , Colestase/genética , Cílios/genética , Feminino , Humanos , Mutação
10.
Front Med (Lausanne) ; 8: 595371, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33718398

RESUMO

Non-alcoholic fatty liver disease (NAFLD) is a challenging disease caused by multiple factors, which may partly explain why it remains still orphan of an adequate therapeutic strategy. Herein we focus on the interplay between oxidative stress (OS) and the other causal pathogenetic factors. Different reactive oxygen species (ROS) generators contribute to NAFLD inflammatory and fibrotic progression, which is quite strictly linked to the lipotoxic liver injury from fatty acids and/or a wide variety of their biologically active metabolites in the context of either a two-hit or a (more recent) multiple parallel hits theory. An antioxidant defense system is usually able to protect hepatic cells from damaging effects caused by ROS, including those produced into the gastrointestinal tract, i.e., by-products generated by usual cellular metabolic processes, normal or dysbiotic microbiota, and/or diet through an enhanced gut-liver axis. Oxidative stress originating from the imbalance between ROS generation and antioxidant defenses is under the influence of individual genetic and epigenetic factors as well. Healthy diet and physical activity have been shown to be effective on NAFLD also with antioxidant mechanisms, but compliance to these lifestyles is very low. Among several considered antioxidants, vitamin E has been particularly studied; however, data are still contradictory. Some studies with natural polyphenols proposed for NAFLD prevention and treatment are encouraging. Probiotics, prebiotics, diet, or fecal microbiota transplantation represent new therapeutic approaches targeting the gut microbiota dysbiosis. In the near future, precision medicine taking into consideration genetic or environmental epigenetic risk factors will likely assist in further selecting the treatment that could work best for a specific patient.

12.
Pediatr Res ; 89(5): 1179-1184, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32392576

RESUMO

BACKGROUND: Data on analgesic effects of breast/formula milk sucking while receiving routine childhood immunizations are available only in early infancy, have rarely been compared in the same study, and are not accompanied by information on mothers' satisfaction/acceptance. Here we aimed to compare the analgesic effect of both methods vs. held-only controls up to 1 year of age, and verify mothers' satisfaction. METHODS: Two to 12 months children subjected to vaccine were allocated into three groups: breastfed, formula-fed, and held-only controls. A video recording was performed to analyze pain parameters: crying latency/duration and specific scales [FLACC (Face, Legs, Activity, Cry, and Consolability), NIPS (Neonatal Infant Pain Scale)]. After the procedure, mothers filled in a satisfaction questionnaire. RESULTS: One-hundred and sixty-two children were recruited: 54 breastfed, 35 formula fed, and 73 controls. Breastfed showed the longest crying latency, and together with formula fed, had the shortest duration and lowest pain scores. Most mothers appreciated not only the respective feeding-mediated pain mitigation method used, but also the simply-holding procedure. In all cases, they felt reassured, with an unexpected frequent underestimation of their child's pain during the shot. CONCLUSIONS: The analgesic effect of breastfeeding during vaccination extends also to children >6 months old, and is obtained by formula too. Embracing the child may help to reassure mothers. IMPACT: We confirmed the analgesic effect of breastfeeding during the vaccination procedures in early infancy. We show for the first time that this effect is extended also to children up to 1 year of age, and it may be obtained by formula feeding as well. Most mothers appreciated pain mitigation not only through feeding, but also the simply-holding procedure. In all cases, mothers felt reassured, with an unexpected frequent underestimation of their child' pain during the shot. The promotion of these easily feasible and well-accepted strategies should be further encouraged within health professionals during vaccination procedures.


Assuntos
Analgesia , Aleitamento Materno , Imunização/efeitos adversos , Alimentos Infantis , Dor/prevenção & controle , Feminino , Humanos , Lactente , Masculino , Avaliação de Resultados em Cuidados de Saúde
13.
Eur J Pediatr ; 178(5): 607-622, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30949888

RESUMO

Humanization of care (HOC) interventions have rarely been evaluated and compared. We systematically reviewed the outcomes of published interventions aimed to improve the HOC for hospitalized children. PubMed and Scopus were used as data sources. Studies published between January 1, 2000, and February 28, 2018, were considered eligible if they reported analysis of results vs. either a control group or baseline, or if they measured patient/family/staff satisfaction. Neonatal age, emergency departments, and subspecialty settings were excluded. Data were extracted using a standardized data extraction form including study design, sample size, intervention, outcome/objective, and evaluation of results or pre- post-intervention satisfaction. Twenty-eight of the 12,012 retrieved articles met the inclusion criteria. Most studies were of moderate to low quality. Only six studies were of high quality. Areas of interest dealt with environment (n = 4), provider-patient relationship (n = 6), pet therapy (n = 5), technology (n = 5), family-centered rounds (n = 2), psychological support (n = 3), and staff training (n = 3). The overall trend of the results indicated that interventions were mostly effective and likely to have beneficial effects on several aspects of pediatric hospitalization.Conclusions: Pending further studies of better research quality, the findings of this review may have policy and practice implications for planning HOC interventions by pediatric healthcare professionals. What is Known: • In pediatrics, humanization of care (HOC) provides assistance focused not only on the child as a patient, but on the whole family. • HOC programs have been developed, but information on the overall outcome of local projects aiming to improve in a practical way the hospital taking charge of pediatric patients is still lacking. What is New: • Local HOC interventions are mostly effective and have beneficial effects on several aspects of hospitalization in general pediatrics wards. • The findings of this review may have practice implications for planning HOC interventions by pediatric healthcare professionals.


Assuntos
Unidades Hospitalares , Assistência Centrada no Paciente/métodos , Pediatria/métodos , Criança , Família , Humanos
14.
Ital J Pediatr ; 43(1): 76, 2017 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-28854953

RESUMO

BACKGROUND: The term "humanization" indicates the process by which people try to make something more human and civilized, more in line with what is believed to be the human nature. The humanization of care is an important and not yet a well-defined issue which includes a wide range of aspects related to the approach to the patient and care modalities. In pediatrics, the humanization concept is even vaguer due to the dual involvement of both the child and his/her family and by the existence of multiple proposed models. OBJECTIVE: The present study aims to analyze the main existing humanization models regarding pediatric care, and the tools for assessing its grade. RESULTS: The main Humanization care programs have been elaborated and developed both in America (Brazil, USA) and Europe. The North American and European models specifically concern pediatric care, while the model developed in Brazil is part of a broader program aimed at all age groups. The first emphasis is on the importance of the family in child care, the second emphasis is on the child's right to be a leader, to be heard and to be able to express its opinion on the program's own care. Several tools have been created and used to evaluate humanization of care programs and related aspects. None, however, had been mutually compared. CONCLUSIONS: The major models of humanization care and the related assessment tools here reviewed highlight the urgent need for a more unifying approach, which may help in realizing health care programs closer to the young patient's and his/her family needs.


Assuntos
Atitude do Pessoal de Saúde , Enfermagem Familiar/organização & administração , Assistência ao Paciente/métodos , Pediatria/métodos , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Poder Familiar/psicologia , Relações Médico-Paciente
15.
Aging Clin Exp Res ; 29(Suppl 1): 167-171, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27873102

RESUMO

The postoperative follow-up strategies for breast carcinoma (BC) utilize different procedures; the aim of this study was to investigate the role of fine-needle cytology (FNC) in the follow-up of BC patients. Two hundred sixty-six FNC samples from 190 BC patients have been reviewed. The target anatomical sites were 190 breast including 155 ipsilateral and 145 contralateral breast lesions and 76 extra-mammary nodules. Extra-mammary lesions included lymph nodes, thyroidal nodules, soft tissue lesions, (subcutaneous and sub-scars), salivary glands and deep located masses. Diagnostic distribution of the breast lesions was as follows: 51 positive, 15 indeterminate/suspicious, 119 negative and 5 inadequate. Positive cases included 43 ipsilateral and 8 contralateral BC, 9 BC in different quadrants from those of onset of the first BC. Sensitivity, specificity and accuracy have been 90, 91 and 90&, respectively. FNC, in a correct setting, is a reliable and effective method for the follow-up management of BC patients.


Assuntos
Biópsia por Agulha Fina/métodos , Neoplasias da Mama , Mastectomia/efeitos adversos , Metástase Neoplásica/patologia , Recidiva Local de Neoplasia/patologia , Idoso , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Citodiagnóstico/métodos , Feminino , Seguimentos , Humanos , Itália , Masculino , Mastectomia/métodos , Pessoa de Meia-Idade , Período Pós-Operatório , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
16.
Front Biosci (Landmark Ed) ; 21(1): 55-69, 2016 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-26709761

RESUMO

Genome integrity maintenance is crucial for cell survival and for counteracting cancer onset and progression. Mammary cells invest great amount of energy in DNA repair, in order to avoid errors accumulation in DNA sequence. Nucleotide Excision Repair (NER) removes a broad spectrum of DNA damages, mainly bulky DNA lesions. Tissues of Head and Neck region are heavily exposed to bulky lesions inducing carcinogens, this making NER process of great interest in the field. Here we review the recent literature about NER in HNC and we also discuss the role played by NER in HNSCC in the chromatin context; to this aim we particularly focus on the role played by histones chaperon CAF-1, essential in restoring the chromatin structure following DNA replication and DNA damage repair, including NER. A better understanding of basic mechanisms underlying the DNA damage response, particularly involving NER, especially in the chromatin context, will provide us with new promising way to bypass the repair block, possibly becoming an unexpected mode of  "transversal" control also of the proliferative deregulation, classically observed in HNSCC.


Assuntos
Reparo do DNA , Neoplasias de Cabeça e Pescoço/genética , Dano ao DNA , Replicação do DNA , Instabilidade Genômica , Humanos
17.
Clin Dermatol ; 32(5): 660-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25160108

RESUMO

Ionizing and ultraviolet radiations, as well as burns, can selectively damage and immunologically mark the cutaneous area they act on through direct and indirect mechanisms. After the causal event has disappeared, the affected skin district may appear clinically normal, but its immune behavior is often compromised forever. In fact, irradiated or burned skin areas undergo a destabilization of the immune control, which can lead to either a reduction of immunity (as suggested by the facilitated local occurrence of tumors and infections) or an excess of it (as suggested by the possible local onset of disorders with exaggerated immune response). In other words, these areas become typical immunocompromised districts (ICD). Also, in recall phenomena the damaged skin area usually behaves as an ICD with an exaggerated immune response toward a wide range of drugs (especially chemotherapeutic agents) that prove to be harmless on the undamaged skin surface. The occurrence of any skin disorder on an irradiated, photoexposed, or burned skin area can be defined as an isoradiotopic, isophototopic, or isocaumatopic response, respectively; however, the opposite may also occur when elsewhere generalized cutaneous diseases or eruptions selectively spare irradiated, photoexposed, or burned skin sites (isoradiotopic, isophototopic, and isocaumatopic nonresponse, respectively). The pathomechanisms involved in any secondary disorder occurring on irradiated or burned skin areas may be linked to locally decreased or altered lymph flow (with dysfunction of lymph drainage) on the one hand, and to fibrotic throttling or reduction of peptidergic nerve fibers (with dysfunction of neuroimmune signaling) on the other hand, resulting in a significant dysregulation of the local immune response. Future clinical observations and experimental investigations on radiation dermatitis, sunburns, and thermal or chemical skin injuries should shed new light on the mechanisms regulating regional resistance to infectious agents, local oncogenesis, and district propensity to dysimmune reactions.


Assuntos
Queimaduras/imunologia , Hospedeiro Imunocomprometido , Memória Imunológica , Radiodermite/imunologia , Neoplasias Cutâneas/imunologia , Pele/imunologia , Pele/lesões , Humanos , Pele/efeitos da radiação , Raios Ultravioleta/efeitos adversos
19.
Am J Surg ; 207(2): 293-8, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24119888

RESUMO

BACKGROUND: Carotid body tumors (CBTs) are relatively rare neoplasms, and even if they are considered predominantly benign, there is an indication for early surgical removal. The objective of this study was to conduct a review of the surgical management of CBTs. METHODS: A retrospective study identified 34 cases (12 men and 19 women) of tumors in patients who had undergone surgical resection of pathologically confirmed CBTs over a period of 10 years from 2001 to 2011 in 2 academic departments of general surgery in Italy. RESULTS: In our series, 10 CBTs (31%) were Shamblin class I, 13 (41%) were class II, and 9 tumors (27%) were class III. Two patients (6%) had transient cerebral ischemia immediately after operation. One patient (3%) died of postoperative cerebral ischemia after surgery for internal carotid artery thrombosis. CONCLUSIONS: The experience of this casuistry shows that the procedure is relatively low risk for Shamblin I and II classes, whereas there is an increasing risk of neurovascular complications for Shamblin III class.


Assuntos
Tumor do Corpo Carotídeo/cirurgia , Procedimentos Cirúrgicos Vasculares/métodos , Adulto , Idoso , Tumor do Corpo Carotídeo/diagnóstico , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento
20.
Acta Stomatol Croat ; 48(4): 292-5, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27688378

RESUMO

Abrikossoff's tumour is a rare benign soft tissue neoplasm that can occur in any part of the body, including the orofacial region. The tumour is usually benign, but there are reports of cases in which the tumour shows a locally aggressive behaviour, malignancy, and distant metastases. The aetiology is unknown, since several studies have shown that different cells are involved. In the present case, a 36-year-old Dominican woman was referred to the Department of Oral and Maxillofacial Surgery in Policlinico Federico II, Naples with a circumscribed lesion and sessile nodule on the dorsum of the tongue measuring about 17 mm in diameter. The treatment consisted of an excisional biopsy performed on the basis of the diagnostic hypothesis of Abrikossoff's tumour, which was confirmed by histopathological analysis and histochemistry and immunohistochemistry evaluation. Abrikossoff's tumour is an uncommon neoplasm which must be carefully diagnosed considering all the histological and clinical aspects in order to be treated correctly.

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