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1.
Transpl Int ; 36: 11655, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37850156

RESUMO

The COVID-19 pandemic increased morbidity and mortality worldwide, particularly in the Kidney and Kidney-Pancreas Transplant Recipient (KTR/KPTR) population. Aiming at assessing the absolute and relative excess mortality (EM) in a Portuguese KTR/KPTR cohort, we conducted a retrospective observational study of two KTR/KPTRs cohorts: cohort 1 (P1; n = 2,179) between September/2012 and March/2020; cohort 2 (P2; n = 2067) between March/2020, and August/2022. A correlation between relative and absolute EM and age, sex, time from transplantation and cause of death was explored. A total of 145 and 84 deaths by all causes were observed in P1 and P2, respectively. The absolute EM in P2 versus P1 was 19.2 deaths (observed/expected mortality ratio 1.30, p = 0.006), and the relative EM was 1.47/1,000 person-months (95% CI 1.11-1.93, p = 0.006). Compared to the same period in the general population, the standardized mortality rate by age in P2 was 3.86 (95% CI 2.40-5.31), with a peak at 9.00 (95% CI 4.84-13.16) in P2C. The higher EM identified in this population was associated, mainly, with COVID-19 infection, with much higher values during the second seasonal COVID-19 peak when compared to the general population, despite generalized vaccination. These highlight the need for further preventive measures and improved therapies in these patients.


Assuntos
COVID-19 , Transplante de Pâncreas , Humanos , Estudos de Coortes , COVID-19/epidemiologia , Rim , Pandemias , Portugal/epidemiologia , Transplantados , Estudos Retrospectivos
2.
Arch Dis Child Educ Pract Ed ; 107(6): 408-414, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-34697035

RESUMO

The COVID-19 pandemic has caused significant disease across the globe but children seem to be much less affected than adults. Coincidentally with the first wave of the pandemic, a cluster of children with fever, hyperinflammation and shock were identified, and this was first described as paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) by the Royal College of Paediatrics and Child Health. Patients with this novel condition were transferred to tertiary centres for management, increasing the pressure in these hospitals that were already extremely busy. There are multiple challenges related to the identification of patients presenting with PIMS-TS given that they mimic multiple other well-known paediatric conditions, like Kawasaki disease and toxic shock syndrome. Investigations and admission criteria to a district general hospital (DGH) need to be well established, and clear guidance should be available for easy decision making in a busy paediatric emergency department. Furthermore, these children can deteriorate suddenly and rapidly; close monitoring is vital, and any deterioration must be taken seriously and addressed immediately. All children who present severely ill, with shock and multiorgan failure, should be retrieved to a paediatric intensive care unit. As our knowledge of the condition has developed, more patients are now managed in a DGH, with virtual multidisciplinary team involvement. This paper outlines a structured approach to management of children presenting with suspected PIMS-TS in a DGH.


Assuntos
COVID-19 , Criança , Humanos , Pandemias , SARS-CoV-2 , Hospitais Gerais , Encaminhamento e Consulta
4.
Nefrologia (Engl Ed) ; 44(3): 344-353, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39002995

RESUMO

INTRODUCTION AND OBJECTIVES: Functional and durable vascular access is needed for adequate hemodialysis. Arteriovenous fistula is preferred over prosthetic grafts or central venous catheters, but it is associated with high rates of primary failure and maturation failure. Preoperative mapping of arm vessels with color Doppler ultrasound (CDU) has been shown to be helpful in achieving better short and long-term outcomes. Unfortunately, is more time-consuming than a physical examination and requires an experienced examiner and special equipment; some authors defend that CDU should not be part of the routine preoperative assessment. We reported our experience in preoperative vessel mapping using color Doppler ultrasound to purpose a vascular access to the surgical team, surveillance of vascular access, and evaluation of main outcomes (primary failure, maturation failure, and patency). METHODS: This is a single-center retrospective study that includes patients who attended a specific appointment for vascular access planning consultation between January 2019 and December 2021. A nephrologist performed the physical exam and vascular mapping and proposed to the vascular surgeon team a specific type and location of vascular access. Patients were followed until one month after the first hemodialysis through functioning vascular access. RESULTS: In this study, 167 patients were evaluated (114 incident patients - chronic kidney disease stage 4 or 5 - and 53 prevalent patients - under hemodialysis through central venous catheter). The vascular accesses proposed by nephrologist were radial-cephalic arteriovenous fistula in 70 patients (41.9%), brachio-cephalic arteriovenous fistula in 50 patients (29.9%), brachio-basilic arteriovenous fistula in 34 patients (20.4%), arteriovenous graft in 8 patients (4.8%) and central venous catheter in 2 patients (1.2%). Vascular access was constructed in 141 patients: distal arteriovenous fistula in 57 patients (40.4%), brachio-cephalic arteriovenous fistula in 54 patients (38.3%), brachio-basilic AVF in 27 patients (19.1%), and arteriovenous graft in 3 patients (2.1%). The created access corresponds to the proposed access in 129 patients (91.5%). Twenty-two (15.6%) primary failures were registered. Distal arteriovenous fistulas and diabetes mellitus were associated with a higher risk of primary failure (OR=3.929 (1.485-10.392), p=0.004; OR=3.867 (1.235-12.113), p=0.014, respectively). The incidence of maturation failure at eight weeks was 4.8%. The primary patency at 6, 12 and 24 months was 76.3%, 70.4% and 49.2%. Primary assisted patency was 84.8% at 6 and 12 months and 81.3% at 24 months. CONCLUSIONS: This study demonstrates that the study of the entire vascular territory performed with color Doppler ultrasound, within a multidisciplinary team of nephrologists and vascular surgeons, is associated with high rates of autologous access and very low rates of primary failure and maturation failure (almost unprecedented in the literature).


Assuntos
Derivação Arteriovenosa Cirúrgica , Equipe de Assistência ao Paciente , Diálise Renal , Humanos , Diálise Renal/métodos , Derivação Arteriovenosa Cirúrgica/métodos , Feminino , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Ultrassonografia Doppler em Cores , Cuidados Pré-Operatórios/métodos , Grau de Desobstrução Vascular
5.
Immunol Res ; 2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38291273

RESUMO

A Consensus of Psychoimmunology Experts (Pollak et al., 2019) established a set of red flags and proposed diagnostic criteria for psychosis of autoimmune origin (AIP). Previous studies on AIP are limited by the scarcity of CSF analysis, preventing the valorization of blood anti-neuronal antibodies (Ab). The aims of this study are to determine the relative frequency and characterize AIP in a cohort of psychotic patients that underwent CSF workup. This work is a retrospective study in a tertiary psychiatric hospital. Clinical and paraclinical data were collected from medical records, and patients were classified according to Pollak et al. (2019) criteria. From 68 patients, ten (14.7%) had positive anti-neuronal antibodies (Ab): n = 5 in CSF and blood (n = 4 anti-NMDAr, n = 1 -GAD65), and n = 5 in blood only (n = 1 anti-GABAb, n = 1 -GAD65, n = 1 -SOX1, n = 1 -NMDAr, n = 1 -zic4). After 5- (2-10)-year follow-up, n = 6/68 (8.8%) had AIP diagnosis in context of autoimmune encephalitis (AE), and the remaining (n = 4/10, blood-only Ab) alternative diagnoses (n = 2 dementia, n = 1 schizophrenia, n = 1 intellectual disability). Ten of the 13 patients that fulfilled criteria for possible AIP were mimics, and only three AE had criteria for probable AIP. All AIP developed neurological manifestations (mostly cognitive dysfunction); EEG was usually abnormal (66.7%), and all had normal MRI. We found statistically significant associations between AIP/AE and systemic autoimmune disease, presentation with seizures and EEG abnormalities. All AE developed neurological symptoms alongside psychosis. Ab positivity occurred predominantly in AE but also in other neuropsychiatric disorders. Clinical suspicion based on the knowledge of the described presentations of established Ab is crucial in the psychotic patient approach.

6.
Front Neurosci ; 18: 1294574, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38370435

RESUMO

Introduction: Multiple sclerosis (MS), a chronic inflammatory immune-mediated disease of the central nervous system (CNS), is a common condition in young adults, but it can also affect children. The aim of this study was to construct radiomic models of lesions based on magnetic resonance imaging (MRI, T2-weighted-Fluid-Attenuated Inversion Recovery), to understand the correlation between extracted radiomic features, brain and lesion volumetry, demographic, clinical and laboratorial data. Methods: The neuroimaging data extracted from eleven scans of pediatric MS patients were analyzed. A total of 60 radiomic features based on MR T2-FLAIR images were extracted and used to calculate gray level co-occurrence matrix (GLCM). The principal component analysis and ROC analysis were performed to select the radiomic features, respectively. The realized classification task by the logistic regression models was performed according to these radiomic features. Results: Ten most relevant features were selected from data extracted. The logistic regression applied to T2-FLAIR radiomic features revealed significant predictor for multiple sclerosis (MS) lesion detection. Only the variable "contrast" was statistically significant, indicating that only this variable played a significant role in the model. This approach enhances the classification of lesions from normal tissue. Discussion and conclusion: Our exploratory results suggest that the radiomic models based on MR imaging (T2-FLAIR) may have a potential contribution to characterization of brain tissues and classification of lesions in pediatric MS.

7.
Cureus ; 15(10): e47302, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38021565

RESUMO

CONTEXT: Patient-controlled analgesia (PCA) is commonly used for postoperative pain control. Although widely used, intravenous (IV) morphine PCA may not be suitable for all patients. Sufentanil sublingual tablet system (SSTS) PCA is a recent technique that has had success as a safe and effective alternative for acute pain management. AIMS: This study aims to compare both the efficacy and safety of SSTS PCA versus IV morphine PCA in postoperative pain control and the quality of recovery in adult patients following scheduled gynecological or orthopedic surgery. SETTINGS AND DESIGN: Open-label, parallel-group, randomized controlled trial with 54 patients. The primary outcome was postoperative pain control, while the secondary outcomes included adverse effects associated with two analgesic modalities, total opioid dose required, patient satisfaction, and impact on the quality of postoperative recovery. METHODS AND MATERIAL: Statistical analysis was performed using IBM SPSS Statistics for Windows, Version 26.0 (Released 2019; IBM Corp., Armonk, New York, United States). The chi-squared test was used in categorical variables. When distribution was normal, T-student (mean ± standard deviation) was used in continuous variables. In contrast, when distribution was not normal, the Mann-Whitney test (median (minimal-maximal)) was used. RESULTS: The results showed that there was a statistically significant difference in the total dose of opioid used by patients at 24 hours postoperatively, with patients receiving SSTS PCA requiring a higher total dose when compared to those receiving IV morphine PCA. However, there were no statistically significant differences in pain scores, adverse events, or patient satisfaction. CONCLUSIONS: The study suggests that both IV morphine and sublingual sufentanil are safe and effective for postoperative pain management.

8.
Int J Soc Psychiatry ; 69(7): 1592-1604, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37095736

RESUMO

BACKGROUND: There is no consensus about the etiology of schizophrenia (SQZ) and bipolar disorder (BD). Both hereditary and environmental factors are recognized, but the importance of variables like the role of parental attachment and trauma is still under research. AIMS: Evaluate and compare the patient-parent bonding and the frequency and severity of various types of trauma in patients with SQZ, BD, and a control group from Primary Health Care. METHOD: This study included 50 patients with SQZ and 50 with BD followed at a psychiatric hospital, through a convenience sample. Each participant of the clinical sample was paired with a control with no psychiatric background of the same gender and similar age, from a primary health center. Two scales were applied - Parental Bonding Instrument (PBI) and Childhood Trauma Questionnaire - Short Form (CTQ-SF). RESULTS: Regarding PBI, there was a higher frequency of the most dysfunctional attachment style (affectionless control), in patients with SQZ and BD, with p < .001 (always), both for the father and the mother. In addition, ideal parenting style (optimal parenting) was significantly more common in control samples, with p = .002 or <.001, both for the father and for the mother. Trauma was more frequent and severe in SQZ and BD than controls, in all evaluated dimensions. Again, differences between groups are obvious, with p = .012 or <.001. Parental bonding style and scores in the care and overprotection dimensions were also correlated. The only parental bonding style in which correlations were found was in affectionless control. Correlations were more common in cases of neglect compared to abuse. CONCLUSIONS: In this research we found important differences in terms of parental attachment and childhood trauma between patients with SQZ and BD, compared with controls of the same gender and age.


Assuntos
Transtorno Bipolar , Esquizofrenia , Feminino , Humanos , Criança , Transtorno Bipolar/psicologia , Estudos de Casos e Controles , Pais , Poder Familiar/psicologia
9.
Transplant Proc ; 55(6): 1437-1440, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37393168

RESUMO

BACKGROUND: Renal artery thrombosis is a devastating complication if not detected early. Cardioembolic disease or surgical and technical complications are frequent causes of renal artery thrombosis. There are some reports of renal artery thrombosis in a renal allograft, but to our knowledge, this is the first case of renal artery thrombosis reported in a kidney donor.


Assuntos
Nefropatias , Transplante de Rim , Trombose , Humanos , Transplante de Rim/efeitos adversos , Artéria Renal/diagnóstico por imagem , Artéria Renal/cirurgia , Doadores Vivos , Trombose/etiologia , Transplante Homólogo/efeitos adversos , Nefropatias/complicações
10.
Cureus ; 15(1): e33259, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36741645

RESUMO

Background and objective Pediatric thyroid disease requiring surgery is rare. Thyroid nodules are a frequent indication for surgery and are mostly benign. However, up to 25% of cases can be malignant. In this study, we aimed to describe our center's experience with regard to pediatric thyroid surgery. Methods This was a retrospective transverse study involving pediatric patients who underwent thyroid surgery at a tertiary hospital between January 2010 and December 2021. Results A total of 14 patients underwent 15 surgeries. The main reason for referral to pediatric endocrinology was thyroid nodules (n=10). Thirteen fine needle aspirations (FNAs) were performed, with follicular tumor (n=6) being the most common finding. The median age of patients at surgery was 15.9 years [interquartile range (IQR): 14.0-16.8]. The most common surgical indications were the presence of a follicular tumor on FNA (n=5) and thyroid nodule size causing symptoms (n=5). There was one case of prophylactic thyroidectomy due to the identification of a multiple endocrine neoplasia type 2A (MEN2A) mutation. The most frequently described histopathology results were follicular adenoma (n=6) and colloid nodular goiter (n=6). Three postoperative complications were observed in three different patients: bilateral lesion of the recurrent laryngeal nerve, cervical hematoma, and transient hypoparathyroidism with hypocalcemia. Conclusion In our study, the most frequent surgical indication was a follicular tumor. A good correlation was found between FNA cytology and final histopathology results, which is in accordance with previous studies. This reinforces the importance of FNA in diagnosis and surgical planning. The rate of complications in our study is comparable to that in larger single-center series in the literature.

11.
Prim Care Diabetes ; 17(2): 175-179, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36646543

RESUMO

AIMS: To characterize a cohort of T1D patients and to compare diabetes control between patients using different regimen of insulin therapy and glucose monitoring. METHODS: Were included all T1D patients followed at the Pediatric Endocrinology Unit, between April 1st and June 30th, 2021. Several clinical and demographic variables were analyzed. RESULTS: Our sample included 208 patients, 56.7 % males, mean age of 12.7 ± 4.6 years. The median HbA1c was 7.3 %. Most patients, 78.8% were treated with continuous subcutaneous insulin infusion (CSII) and 81.3 % used continuous glucose monitoring (CGM). CSII had a lower HbAc compared with multiple daily injections (MDI) users (7.1vs 8.1 %, p < 0.01). In the CSII group, those who used CGM had a lower HbAc (7.1 vs 7.5 %,p = 0.02). Analyzing the data of the ambulatory glucose report, the CSII users had a lower glucose management indicator, (7.2 % vs 7.6 %, p < 0.01), more time in range (58.0 % vs 52.4 %;p < 0.01) and less time above range > 250 mg/dL (12.4 % vs 20.5 %;p < 0.01) than MDI users. CONCLUSIONS: The median HbA1c was 7.3% very close to the recommended target. In Portugal, pediatric patients can access a CSII provided by the national health service and a CGM system due to an elevated reimbursement of their cost. This healthy policy allows us to achieve better goals without the risk of hypoglycemia.


Assuntos
Diabetes Mellitus Tipo 1 , Masculino , Humanos , Criança , Adolescente , Feminino , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Automonitorização da Glicemia , Portugal , Hemoglobinas Glicadas , Medicina Estatal , Glicemia/metabolismo , Insulina/uso terapêutico , Sistemas de Infusão de Insulina/efeitos adversos
12.
Transplant Proc ; 55(6): 1373-1376, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37271604

RESUMO

BACKGROUND: Living kidney donation (LKD) is a preferred treatment option for end-stage chronic kidney disease, but it can also pose potential risks for the donor, including hypertension and end-stage renal disease. Many donors are women of reproductive age who may have concerns about the effects of donation on future pregnancies. The aim of this study was to determine fetal and maternal outcomes in a cohort of pregnancies after LKD and to compare them with pregnancies before LKD. METHODS: We conducted a retrospective analysis of living kidney donors of childbearing age (<46 years old) at the time of donation who got pregnant after LKD in our center between 1987 and 2020 (N = 13). Clinical data were collected, including demographic characteristics and maternal and fetal outcomes. RESULTS: We observed 16 pregnancies after LKD and 12 pregnancies before LKD in the same group of patients. The rate of gestational hypertension was 12.5% in pregnancies after LKD and 8.3% before LKD (P = .999). There were 13 successful pregnancies after LKD with a mean gestational age of 38.6 ± 1.7 weeks. There were no episodes of acute kidney injury or other complications. CONCLUSION: The present study suggests that LKD does not have a negative effect on maternal and fetal outcomes. However, caution should be taken due to the small sample size. We agree with the guidelines recommending close monitoring of post-donation pregnancies.


Assuntos
Falência Renal Crônica , Transplante de Rim , Humanos , Feminino , Gravidez , Pessoa de Meia-Idade , Lactente , Masculino , Doadores Vivos , Transplante de Rim/efeitos adversos , Estudos Retrospectivos , Portugal , Inquéritos e Questionários , Rim
13.
Artigo em Inglês | MEDLINE | ID: mdl-35457769

RESUMO

Physical activity during pregnancy is a public health issue. In the view of reproducibility and the successful implementation of exercise interventions, reporting the quality of such study design must be ensured. The objective of this study was to develop and validate a physical exercise program promoting fitness and health during pregnancy. A qualitative methodological study was carried out. For the description of the exercise program, the Consensus on Exercise Reporting Template (CERT) was used. For the validation of the program, the revised guideline of the Criteria for Reporting the Development and Evaluation of Complex Interventions in Health Care (CReDECI2) was followed and went through three stages of development, piloting, and evaluation. The customizable exercise program was designed and validated by exercise and health specialists based on evidence-based, international recommendations and supported by different educational tools to be implemented by qualified exercise professionals in health and fitness settings. A 12-week testing intervention addressing a group of 29 pregnant women was carried out. The program's feasibility was subsequently evaluated by all the pregnant women. The CReDECI2 process guides practitioners and researchers in developing and evaluating complex educational interventions. The presented intervention may assist exercise specialists, health professionals, and researchers in planning, promoting, and implementing a prenatal exercise program.


Assuntos
Terapia por Exercício , Exercício Físico , Feminino , Humanos , Aptidão Física , Gravidez , Gestantes , Reprodutibilidade dos Testes
14.
J Bodyw Mov Ther ; 31: 45-50, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35710220

RESUMO

This study aimed to determine the intra-day reliability, individuals performance expectancy, and biomechanical response of nine stretching instructions in assessing the maximal range of motion (mROM) during the passive ankle dorsiflexion test. Twenty healthy young participants were tested in two sessions within the same day. Nine stretching instructions composed by intensity-domain (i.e. minimum, point, and maximum) and sensation-domain (i.e. tolerance, discomfort, and pain) words were used to impose plantar flexors stretching. In the first session, individuals were requested to order the nine stretching instructions in ascending order. The ankle joint torque-angle and medial gastrocnemius, soleus and tibialis anterior electric activity were assessed in both sessions. A moderate to high reliability was observed across instructions (ICC = 0.65-0.87). Most stretching instructions showed high intra-day reliability outcomes, where discomfort and tolerance showed moderate reliability. 70% of individuals performed the stretching maneuvers consistently to stretching instructions performance expectancy. A greater torque-angle response was observed for the instructions involving the word pain (ROM = 40.5 ± 1.6°), compared to discomfort (29.5 ± 1.8°), and tolerance (30.5 ± 2.0°) that produced similar stretching intensities. Instructions involving the terms minimum (29.6 ± 2.0°), point (33.3 ± 7.6°), and maximum (37.6 ± 7.2°) were more discriminative of stretching intensities than sensation-domain terms. In conclusion, stretching instructions targeting the joint maximal range of motion produce different joint torque-angle responses and they may not be understandable by all individuals, although (in general) they can be used reliably.


Assuntos
Exercícios de Alongamento Muscular , Articulação do Tornozelo/fisiologia , Humanos , Músculo Esquelético/fisiologia , Dor , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Torque
15.
Case Rep Infect Dis ; 2022: 5607080, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35223116

RESUMO

Peritoneal dialysis (PD)-related peritonitis is a frequent complication. PD units should be aware of all possible pathogens and share their experience about prevention and optimal management. Uncommon bacteria, a special group with crescent incidence in PD practice, may require singular considerations. A case of peritonitis due to Ewingella americana, a rare human pathogen, is reported, with a favorable outcome. To date, only three other cases have been described in the literature. New evidence is necessary for a better understanding of this pathogen and its consequences in PD modality.

16.
J Pediatr Endocrinol Metab ; 35(5): 631-638, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35357097

RESUMO

BACKGROUND: Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child's age, but it usually presents with nonspecific and insidious symptoms and signs. The main purpose of this study was to describe and compare patients with primary or secondary AI. METHODS: Retrospective analysis of all patients with adrenal insufficiency followed at the Pediatric Endocrinology Unit in a tertiary care Portuguese hospital over the last 30 years. Data on family history, age at the first manifestation and at etiological diagnosis, and clinical presentation (symptoms, signs and laboratory evaluation) was gathered for all patients. RESULTS: Twenty-eight patients with AI were included; 67.9% were male, with a median (25th-75th percentile, P25-P75) age of 1 (0.5-36) month at the first presentation. The principal diagnostic categories were panhypopituitarism (42.9%) and congenital adrenal hyperplasia (25%). The most frequent manifestations (75%) were vomiting and weight loss. They were followed for a median (P25-P75) period of 3.5 (0.6-15.5) years. In respect to neurodevelopmental delay and learning difficulties, they were more common in the secondary AI group. CONCLUSIONS: Despite medical advances, the diagnosis and management of AI remains a challenge, particularly in the pediatric population, and clinicians must have a high index of suspicion. An early identification of AI can prevent a potential lethal outcome, which may result from severe cardiovascular and hemodynamic instability.


Assuntos
Insuficiência Adrenal , Hipopituitarismo , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/epidemiologia , Insuficiência Adrenal/etiologia , Criança , Feminino , Hospitais , Humanos , Hipopituitarismo/complicações , Masculino , Portugal/epidemiologia , Estudos Retrospectivos
17.
J Pediatr Endocrinol Metab ; 34(6): 799-803, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-33818042

RESUMO

OBJECTIVES: Pituitary apoplexy is a rare complication of Cushing's disease (CD), especially in the paediatric age and even more rarely it can occur following anterior pituitary stimulation tests. CASE PRESENTATION: We report a case of a 14-year-old girl who was admitted to our Hospital for evaluation of a possible Cushing's syndrome (CS). Her symptoms and initial laboratory tests were suggestive of CD. Magnetic resonance imaging (MRI) revealed a microadenoma of the pituitary gland. As part of her evaluation she was submitted to a corticotropin-releasing hormone (CRH) stimulation test. Two and a half months later the patient was re-evaluated and presented with both clinical improvement of CS, biochemical resolution of hypercortisolism and tumour size reduction in the MRI, also evidencing a haemorrhagic component favouring the diagnosis of pituitary apoplexy after CRH stimulation test. The patient denied any episodes of severe headache, nausea, vomiting or visual changes. CONCLUSIONS: To our knowledge, the authors report the first case of a pituitary apoplexy after a CRH stimulation test in the paediatric age.


Assuntos
Hormônio Liberador da Corticotropina/efeitos adversos , Testes Diagnósticos de Rotina/efeitos adversos , Hipersecreção Hipofisária de ACTH/diagnóstico , Apoplexia Hipofisária/patologia , Adolescente , Hormônio Liberador da Corticotropina/metabolismo , Feminino , Humanos , Hipersecreção Hipofisária de ACTH/metabolismo , Apoplexia Hipofisária/induzido quimicamente , Prognóstico
18.
Nurs Open ; 7(1): 274-284, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31871711

RESUMO

Aim: To develop and validate a physical exercise programme aimed at delaying the functional decline in frail older adults. Design: The revised guideline of Criteria for Reporting the Development and Evaluation of Complex Interventions in health care was followed. Methods: The physical exercise programme was designed and validated by exercise specialists to be implemented by healthcare professionals. The physical exercise programme underwent three stages of development, piloting and evaluation. It includes a portfolio of exercises in different support materials (posters, e-book and website). A testing intervention was delivered to the target population. Results: The Criteria for Reporting the Development and Evaluation of Complex Interventions in health care process has the potential to help practitioners in developing and planning complex interventions, such as an exercise programme. Its components can be adjusted to the context and to the characteristics of the target population. A study protocol and a pilot study will be developed to test the effectiveness of the physical exercise programme on delaying the functional decline of frail older adults.


Assuntos
Exercício Físico , Idoso Fragilizado , Idoso , Terapia por Exercício , Humanos , Projetos Piloto
19.
Eur Endocrinol ; 16(1): 66-68, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32595772

RESUMO

Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.

20.
Strategies Trauma Limb Reconstr ; 14(3): 139-141, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32742429

RESUMO

PURPOSE: Long bone lengthening procedures are paramount in the treatment of limb length discrepancies. We witnessed a revolution in the treatment paradigm of this pathology with the development of expandable intramedullary rods. Endomedular nailing might be technically demanding and some steps are critical for success. The aim of authors is to describe a technical note of the PRECICE system that may ease femoral nailing and fixation: the nail can be advanced through the femur and proximal and distal fixation performed previous to complete femoral osteotomy. MATERIALS AND METHODS: The authors present a case series of XX patients in which the limb lengthening has been performed with partial osteotomy with Gigli saw, nail advancement, proximal and distal fixation, and osteotomy completion at the end of the procedure. RESULTS: After 18 consecutive limb (femoral) lengthening operations with this technical variation in PRECICE, nail patients presented no significant lower limb length discrepancy. There were no records of rotational deformities, nonunion, or infection. Material failure was not reported. CONCLUSION: This technical note is another positive variable that can help to ease the procedure, minimise possible complications, and confirm magnetic expandable nails as the gold standard technique in limb lengthening procedures and it might be applied to other nailing systems for limb lengthening procedures. HOW TO CITE THIS ARTICLE: Lopes M, Nunes B, Couto A, et al. Electromagnetic Rod in Lower Limb Lengthening: A Technical Note for Shaft Osteotomy. Strategies Trauma Limb Reconstr 2019;14(3):139-141.

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