La asistencia de enfermería a un paciente infartado portador de vih, basado en la teoría del autocuidado: estudio de caso

OBJECTIVE: Argued recent fact in the treatment of the patients with HIV is the possible increase of the cardiovascular risk in patients using inhibiting of proteasis. METHODS: Being thus, we objectify to apply the Systematization of the Assistance of Nursing (SAN) to a carrying of HIV and glutted patient. School is about a study of case carried through in a hospital located in the region metropolitan of São Paulo, in November of 2003, using the SAE and considering of diagnostics of nursing on the basis of taxonomy NANDA II(1) as well as the related interventions of nursing. RESULTS: The main identified disgnostic of nursing had been: Risk for inefficacious control of the therapeutical regimen, anxiety, perfusion to tissular cardiac modified, physical mobility harmed, modified protection, risk for infection, among others. CONCLUSION: The study it showed the importance of the SAE and the decision of the patient in engaging itself in the careful one in order to provide an improvement in the standard of reply of the sick person to the illness.OBJETIVO: Aplicar la Sistematización de la Asistencia de Enfermería (SAE) a un paciente portador de VIH e infarto. MÉTODOS: Se trata de un estudio de caso realizado en un hospital docente localizado en la región metropolitana de São Paulo, en noviembre del 2003, utilizando la Sistematización de la Asistencia de Enfermería y proponiendo diagnósticos de enfermería basados en la taxonomía II NANDA(1) así como las intervenciones de enfermería relacionadas. RESULTADOS: Los principales diagnósticos de enfermería identificados fueron: Riesgo para el control ineficaz del régimen terapéutico, ansiedad, perfusión tisular cardiaca alterada, movilidad física perjudicada, protección alterada, riesgo para la infección, entre otros. CONCLUSIÓN: En el estudio se muestra la importancia de la Sistematización de la Asistencia de Enfermería y de la decisión del paciente para adherirse en el autocuidado con el fin de proporcionar mejora en el patrón de respuesta del paciente a la enfermedad.OBJETIVO: Aplicar a Sistematização da Assistência de Enfermagem (SAE) a um paciente portador de HIV e infartado. MÉTODOS: Trata-se de um estudo de caso realizado em um hospital escola localizado na região metropolitana de São Paulo, em novembro de 2003, utilizando a Sistematização da Assistência de Enfermagem e propondo diagnósticos de enfermagem com base na taxonomia II NANDA bem como as intervenções de enfermagem relacionadas. RESULTADOS: Os principais diagnósticos de enfermagem identificados foram: Risco para controle ineficaz do regime terapêutico, ansiedade, perfusão tissular cardíaca alterada, mobilidade física prejudicada, proteção alterada, risco para infecção, entre outros. CONCLUSÃO: O estudo mostrou a importância da Sistematização da Assistência de Enfermagem e da decisão do paciente em engajar-se no autocuidado a fim de proporcionar uma melhora no padrão de resposta do doente à doença.Universidade Federal de São Paulo (UNIFESP)Universidade Federal de São Paulo (UNIFESP) Departamento de EnfermagemUniversidade Nove de JulhoHospital São Paulo Unidade de CardiologiaHospital do CoraçãoUNIFESP, Depto. de EnfermagemHospital São Paulo Unidade de CardiologiaSciEL

Clinical Features, Cardiovascular Risk Profile, and Therapeutic Trajectories of Patients with Type 2 Diabetes Candidate for Oral Semaglutide Therapy in the Italian Specialist Care

Introduction: This study aimed to address therapeutic inertia in the management of type 2 diabetes (T2D) by investigating the potential of early treatment with oral semaglutide. Methods: A cross-sectional survey was conducted between October 2021 and April 2022 among specialists treating individuals with T2D. A scientific committee designed a data collection form covering demographics, cardiovascular risk, glucose control metrics, ongoing therapies, and physician judgments on treatment appropriateness. Participants completed anonymous patient questionnaires reflecting routine clinical encounters. The preferred therapeutic regimen for each patient was also identified. Results: The analysis was conducted on 4449 patients initiating oral semaglutide. The population had a relatively short disease duration (42%  60% of patients, and more often than sitagliptin or empagliflozin. Conclusion: The study supports the potential of early implementation of oral semaglutide as a strategy to overcome therapeutic inertia and enhance T2D management

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics

We present here two cases of papillary thyroid carcinoma (PTC) in patients affected by Lynch syndrome (LS). The first case is a 47-year-old woman with typical hereditary non-polyposis colorectal cancer (HNPCC) syndrome, reported with endometrial and ovarian carcinoma at age 43, and colon cancer at age 45. The patient underwent total thyroidectomy and central node dissection in 2007, at 47years old, with a histological diagnosis of PTC (T1aN1a). Molecular genetics showed a germ-line mutation of the MLH1 gene, 1858 G>T(E620X), with substitution of glycine with a stop codon at position 620. This mutation has pathogenetic significance and was considered responsible for the various tumours of the HNPCC spectrum. In particular, in the same kindred, spanning 5 generations, there were 5 members with colorectal cancer, 4 with endometrial cancer, 3 with gastric and 2 with breast cancer. The second case is a 34-year-old man with typical HNPCC syndrome with colonic resection for colon cancer at age 21. The patient underwent total thyroidectomy with central and lateral node dissection in 2010, at age 34, with a histological diagnosis of PTC with nodal metastases (pT4N1b). Molecular genetic analysis showed a germ-line mutation of the MSH2 gene (thymine insertion at position 907). This mutation had pathogenetic significance and was considered responsible for HNPCC development. Two similar cases have been reported: a 39-year-old woman, and a 44-year-old woman, affected by HNPCC syndrome, with anaplastic thyroid carcinoma and undifferentiated thyroid carcinoma, respectively. We reviewed the Lynch syndrome literature on the history, genetics and expanding tumour spectrum of this condition

Lymphoscintigraphy in differentiated thyroid cancer

There is considerable variability in the surgical approach to differentiated thyroid cancer regarding the decision to explore and remove central or central and lateral compartment lymph nodes. Much as sentinel lymph node sampling has improved the decision to remove axillary nodes for breast cancer, vital dye and lymphoscintigraphy with lymph node sampling may direct the surgical approach to differentiated thyroid cance

Does the ultrasound dissector improve parathyroid gland preservation during surgery?

BACKGROUND: The most common complication of thyroid surgery is hypoparathyroidism, usually temporary. Ischemic injury or parathyroid avulsion are the causes of surgical hypoparathyroidism. We assessed the value of an ultrasound scalpel, the Harmonic Focus(\uae) (HF), could prevent surgical-related hypoparathyroidism. METHODS: Patients consecutively undergoing total thyroidectomy using the HF from November 2009 to February 2011 were recruited and their clinical characteristics, type of operation, histology, and postoperative calcium levels (normal range: 2.10-2.55 mMol/l) were recorded. The prevalence of transient and permanent hypocalcemia was calculated for benign vs. malignant diseases and compared with a control group of 147 patients treated surgically in 2005 using manual technique. RESULTS: 139 patients treated by the same surgeon with a total thyroidectomy (41.7% for a malignant disease) were considered. Prevalence of transient hypoparathyroidism (THP) was 45.2% and of definitive hypoparathyroidism (DHP) 1.4%. None of the patients with malignancies were hypocalcemic at 1-year follow-up. In the control group THP was found in 51.7% of cases and DHP in 5.4% (p < 0.001). CONCLUSIONS: Use of the ultrasound scalpel improved the likelihood of the parathyroid glands preservation during thyroid surgery. Paradoxically, the HF appears to be more effective in treating malignant disease, i.e. when central node dissection is required

Aberrant right subclavian artery ("arteria lusoria"\u9d) without the known associated nerve anomaly: an "\u80\u9canomaly of the anomaly"\u80\u9d? A clinical case and review of the literature

The "non-recurrent" course of the inferior laryngeal nerve (ILN) is an anatomical variant which must be borne in mind during thyroid surgery. The "non-recurrent" course of the ILN on the right side is associated with the aberrant right subclavian artery (arteria lusoria), and, on the left, is described in situs viscerum inversus. We present a case in which the "arteria lusoria" was not associated with the non-recurrent right ILN. The aims of this paper are to report this "anomaly of the anomaly" to surgeons who may be unaware of it on the one hand and on the other to emphasize that this is the only case so far reported in the literature. Moreover we proposed to explain embryologically these unexpected findings

Incidental medullary thyroid microcarcinoma revealed by mild increase of preoperative serum calcitonin levels: therapeutic implications.

To investigate whether further, diagnostic procedures should be recommended in patients with slight increase of preoperative serum basal calcitonin (bCT) levels in whom surgical treatment can be recommendable. Fourteen consecutive patients with nodular thyroid disease underwent thyroidectomy in our center for suspected medullary thyroid microcarcinoma (MTC) because their serum bCT levels were slightly higher than the upper limit of normal range. Serum bCT was measured by radioimmunoassay, normality range = 0-20 ng/L. Surgical specimens were examined by the same pathologist using histologic and immunohistochemistry techniques. An extensive search for parafollicular C-cell hyperplasia (CCH) and/or microscopic MTC foci was performed. At preoperative ultrasound, a single thyroid nodule was depicted in three patients while a multinodular goiter in 11. The bCT values ranged between 24.4 and 94.6 ng/L, median 42.2 ng/L while the pentagastrin-stimulated CT (sCT) values by pentagastrin test ranged between 61.5 and 1,262 ng/L, median 245.0 ng/L. Total thyroidectomy was performed in 13 patients, and lobectomy in the other one; central node dissection was also performed in eight cases. At histology, MTC was diagnosed in nine patients (64.3 %), showing a median maximum diameter of 6.1 mm (range, 1.5-17 mm); CCH was diagnosed in the other five patients (35.7 %). The pentagastrin stimulation test was obtained in all patients. It is worth noting that a very high increase of sCT >100 ng/mL was observed in 5/9 patients with MTC and in 2/4 patients with HCC, therefore suggesting the absence of a relationship between the entity of response to pentagastrin test with a specific pathology (MTC vs. HCC). In six patients, the MTC was the nodule on which preoperative FNAC had been performed, while in other three patients preoperative FNAC had been performed on a different nodule from the MTC. Based on our experience, in case of the pentagastrin stimulation test with sCT <100 ng/L and a single nodule, the CT assay on FNAC may be useful, subsequently lobectomy with definitive histological diagnosis is recommended. In case of the Pg test with sCT <100 ng/L and bilateral goiter, total thyroidectomy with histological diagnosis is recommended. In this way, as for the surgical procedure, total thyroidectomy is recommended in cases of bilateral goiter, while lobectomy can be offered for cases with single nodes with serum dosage of bCT in the strict follow up. In case of the pentagastrin stimulating test with sCT <100 ng/L and bilateral goiter, total thyroidectomy with histological diagnosis is recommended

Mild to moderate increase of serum calcitonin levels only in presence of large medullary thyroid cancer deposits

Many open questions remain to be elucidated about the diagnosis, treatment and prognosis of medullary thyroid cancer (MTC). The Most intriguing concerns the outcome of MTC patients after surgery. Great importance is usually given to serum calcitonin (Ct) and carcinoembryonic (CEA) levels. It is commonly believed that the higher are the levels of these tumor markers and their kinetics (double time and velocity of markers levels) the worst is the prognosis. However, this is not the rule, as there are huge MTC metastatic deposits characterized by low serum Ct and CEA levels, and this condition is not closely related to the outcome of the disease during post-surgical follow-up. A series is reported here of patients who have these characteristics, as well as a description of their prognosis and clinical outcome. (C) 2015 Elsevier Espana, S.L.U. and SEMNIM. All rights reserve