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1.
Infant Ment Health J ; 40(1): 5-22, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30602069

RESUMO

We apply a biopsychosocial approach to introduce early-in-life experiences that explain a significant part of the male preponderance in the perpetration of violence. Early caregiver abuse and neglect, father absence, and exposure to family and neighborhood violence exacerbate boys' greater risk for aggressive behavior and increase the probability of carrying out violent acts later in life. We examine the development of the psychological self and explore conditions that encourage physical aggression, focusing on the impact on the infant and toddler's emergent mental representation of self, others, and self-other relationships. Boys' slower developmental timetable in the first years of life may enhance their vulnerability for disorganization in emergent neurobiological networks mediating organization of socioemotional relationships. Emergent attachment and activation relationship systems may differentially affect risk and resilience in boys and girls, particularly in single-parent families. Evidence has suggested that the dramatic increase in single-parent families is especially linked to corresponding increases in behavioral undercontrol, antisocial behavior, and the emergence of violence in boys.


Assuntos
Agressão/psicologia , Homens/psicologia , Violência/psicologia , Adolescente , Humanos , Lactente , Masculino , Meio Social
2.
Aten Primaria ; 50(6): 332-339, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-28935380

RESUMO

OBJECTIVES: To determine the factors associated with asthma and asthma-related symptoms in children and adolescents in rural areas of Navarre (Spain). PARTICIPANTS AND METHODS: A cross-sectional study using the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire, as well as additional variables, was conducted on 797 children and adolescents. These provided prevalence data on asthma symptoms and associated factors without further diagnostic testing. LOCATION: Primary Care setting, through the basic health areas and in the corresponding education centres. MEASUREMENTS AND RESULTS: The prevalence of referred asthma is 11.7% in children, and 13.4% in adolescents. The prevalence in the female population is 13.7% and in males it is 11.3%. As for the related factors according to the values of OR, an OR=9.5 was found between wheezing and asthma, and an OR=3.5 between recent rhinitis and asthma. As regards recent wheezing, an OR=11.5 was found between awakenings due to wheezing and recent wheezing, and an OR=3.4 between recent rhinitis and wheezing. CONCLUSIONS: Referred asthma is a prevalent disease in children and adolescents in rural areas. It is more prevalent in adolescence and in the female population. Rhinitis and other asthma symptoms are related to asthma and wheezing, as well as the use of emergency services, in the case of asthma.


Assuntos
Asma/epidemiologia , População Rural/estatística & dados numéricos , Adolescente , Distribuição por Idade , Asma/complicações , Distribuição de Qui-Quadrado , Criança , Intervalos de Confiança , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Modelos Logísticos , Masculino , Razão de Chances , Prevalência , Sons Respiratórios , Rinite/epidemiologia , Distribuição por Sexo , Espanha/epidemiologia
3.
Neurocirugia (Astur) ; 28(1): 15-21, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-27756531

RESUMO

OBJECTIVE: To evaluate the epidemiological and clinical trends in acute traumatic spinal cord injuries. MATERIAL AND METHODS: A retrospective study was conducted of traumatic spinal cord injury patients in Gran Canaria (Canary Islands, Spain) from 2000 to 2014. Demographic and spinal injury severity trends were analysed by year of injury grouped into 3 periods: 2000-2005, 2006-2010, and 2011-2014. RESULTS: The sample included 141 patients. The mean incidence for the entire period was 12 cases/million/year. There was a decrease in cases in the second and third period. While the male/female ratio was 3.8/1 and was maintained in all periods, the mean patient age increased from 38.8 in 2000-5 to 54.5 years in 2011-4 (P<.05). Falls have been the leading cause of spinal cord injury (48.2%), followed by traffic accidents (37.6%). Falls have increased, especially in the older population. Incomplete tetraplegia has been the most prevalent group (30.5%). A vertebral fracture was suffered by 70.3% of all patients, with 93.2% of them requiring surgery. CONCLUSIONS: There has been a decrease in the incidence of traumatic spinal cord injury in recent years. The target population has changed, and the older population is currently the most affected. This reality suggests the need to change the local prevention campaigns for spinal cord injury in the elderly.


Assuntos
Traumatismos da Medula Espinal/epidemiologia , Acidentes por Quedas/estatística & dados numéricos , Acidentes de Trânsito/estatística & dados numéricos , Adulto , Distribuição por Idade , Idoso , Mergulho/lesões , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Traumatismos Ocupacionais/epidemiologia , Quadriplegia/epidemiologia , Quadriplegia/etiologia , Estudos Retrospectivos , Distribuição por Sexo , Espanha/epidemiologia , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/etiologia , Traumatismos da Medula Espinal/terapia , Fraturas da Coluna Vertebral/etiologia , Fraturas da Coluna Vertebral/cirurgia , Adulto Jovem
4.
Orv Hetil ; 158(3): 94-100, 2017 Jan.
Artigo em Húngaro | MEDLINE | ID: mdl-28110567

RESUMO

Heart failure is associated with a poor prognosis despite significant advances in the pharmacological and device therapy and incurs very high cost because of frequent hospitalizations. Therefore, professional high-quality care is essential for both patients and the healthcare system. The best way to evaluate the quality of care for a particular disease is the use of disease-specific registries. Until now, there has not been a registry evaluating characteristics and management of heart failure patients in Hungary. For that reason, the Hungarian Society of Cardiology initiated the set-up of the Hungarian Heart Failure Registry. The Aim of this paper is to present the goals, methods and first year results of the Hungarian Heart Failure Registry. The goal of the Registry is to create a modern, web-based database that summarizes the data of large number of patients who are currently or were previously admitted to hospital or who are currently or were previously patients in an outpatient department due to severe heart failure (NYHA III-IV). Currently 17 cardiology departments participate in the development of the Registry. The planned number of patients is 2000. Initially follow-up was planned for one year (pilot study). After the evaluation of the relevant experiences of the pilot study, long-term follow-up is planned. The Registry collects information about the type of heart failure (heart failure with reduced - LVEF≤45% - vs. preserved - LVEF>45% - ejection fraction), etiology, co-morbidities, diagnostic methods, treatment as well as morbidity and mortality. After the first year, assessing the baseline parameters of 698 patients enrolled in the Registry we found that the majority of patients (87.8%) has heart failure with reduced ejection fraction and in 39.8% of the patients heart failure has an ischaemic origin. The most frequent co-morbidity was hypertension followed by diabetes, renal insufficiency and COPD. The patients were treated with ACE inhibitors or ARBs in 94.4%, with beta blockers in 95.9%, and mineralocorticoid receptor antagonists in 73.9%. The mean dose of neurohormonal antagonists was higher than half of the target dose defined by current guidelines. The use of cardiac resynchronisation therapy was 11.7% and implantable cardioverter defibrillator was 25.8%. The pharmacological and device therapy of patients who were enrolled in the Registry until now was fit the current guidelines' recommendations. This, however, does not mean that the management of heart failure is without problems in our country but that high quality patient care is available with adequate heart failure treatment in cardiology departments dedicated to heart failure care. Orv. Hetil., 2017, 158(3), 94-100.


Assuntos
Cardiologia/normas , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapia , Sistema de Registros/estatística & dados numéricos , Adulto , Idoso , Gerenciamento Clínico , Feminino , Fidelidade a Diretrizes , Humanos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Sociedades Médicas
5.
Med Intensiva ; 41(4): 237-247, 2017 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28161028

RESUMO

Traumatic spinal cord injury requires a multidisciplinary approach both for specialized treatment of the acute phase and for dealing with the secondary complications. A suspicion or diagnosis of spinal cord injury is the first step for a correct management. A review is made of the prehospital management and characteristics of the acute phase of spinal cord injury. Respiratory monitoring for early selective intubation, proper identification and treatment of neurogenic shock are essential for the prevention of secondary spinal cord injury. The use of corticosteroids is currently not a standard practice in neuroprotective treatment, and hemodynamic monitoring and early surgical decompression constitute the cornerstones of adequate management. Traumatic spinal cord injury usually occurs as part of multiple trauma, and this can make diagnosis difficult. Neurological examination and correct selection of radiological exams prevent delayed diagnosis of spinal cord injuries, and help to establish the prognosis.


Assuntos
Traumatismos da Medula Espinal/terapia , Manuseio das Vias Aéreas , Descompressão Cirúrgica , Serviços Médicos de Emergência , Humanos , Hipotensão/etiologia , Hipotensão/prevenção & controle , Hipotermia/etiologia , Hipotermia/prevenção & controle , Hipotermia Induzida , Imobilização/métodos , Traumatismo Múltiplo , Exame Neurológico , Fármacos Neuroprotetores/uso terapêutico , Traumatismos da Medula Espinal/diagnóstico , Traumatismos da Medula Espinal/diagnóstico por imagem , Traumatismos da Medula Espinal/epidemiologia
6.
Trop Med Int Health ; 21(8): 943-955, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27159214

RESUMO

OBJECTIVES: To provide an overview of the most frequent aetiologies found in febrile episodes of children under 5 years from sub-Saharan Africa. METHODS: MEDLINE and EMBASE were searched for publications in English and French on non-malaria fever episodes in African children under 5 years of age, which were published between January 1990 and July 2015. Case reports and conference abstracts were excluded. RESULTS: In total, 3851 titles and abstracts were reviewed, and 153 were selected for full screening of which 18 were included in the present review. Bloodstream infection (BSI) was most commonly investigated (nine of 18) followed by urinary tract infection (UTI) (four of 18) and respiratory tract infection (RTI) (two of 18). Few studies investigated BSI and UTI in the same children (two of 18), or BSI and gastrointestinal infection (GII) (one of 18). As for BSI, the most frequently isolated bacteria were E. coli (four of 12), Streptococcus pneumonia (four of 12), Salmonella spp (three of 12) and Staphylococcus aureus (two of 12) with a positive identification rate of 19.7-33.3%, 5.2-27.6%, 11.7-65.4% and 23.5-42.0%, respectively. As for UTI, the main bacteria isolated were E. coli (six of six) and Klebsiella spp (six of six) with a positive rate of 20.0-72.3% and 10.0-28.5%, respectively. No bacterium was isolated in RTI group, but Human influenzae A and B were frequently found, with the highest positive identification rate in Tanzania (75.3%). Dengue virus (two of 12) was the most frequently reported viral infection with a positive identification rate of 16.7-30.8%. Finally, only rotavirus/adenovirus (69.2% positive identification rate) was found in GII and no bacterium was isolated in this group. CONCLUSIONS: The high prevalence of treatable causes of non-malaria fever episodes requires a proper diagnosis of the origin of fever followed by an appropriate treatment, thereby reducing the under-5 mortality in sub-Saharan Africa and preventing the overprescription of antibiotics and thus circumventing the rise of antibiotic resistance.

7.
Trop Med Int Health ; 21(1): 149-156, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26544671

RESUMO

OBJECTIVE: In sub-Saharan Africa, the use of malaria rapid diagnostic tests (mRDT) has raised awareness of alternative fever causes in children but few studies have included adults. To address this gap, we conducted a study of mRDT-negative fever aetiologies among children and adults in Tanzania. METHODS: A total of 1028 patients aged 3 months to 50 years with a febrile illness and negative mRDT were enrolled from a Tanzanian hospital outpatient department. All had a physical examination and cultures from blood, nasopharynx/throat and urine. Patients were followed on Days 7 and 14 and children meeting WHO criteria for pneumonia were followed on Day 2 with chest radiology. RESULTS: Respiratory symptoms were the most frequent presenting complaint, reported by 20.3% of adults and 64.0% (339/530) of children. Of 38 X-rayed children meeting WHO pneumonia criteria, 47.4% had a normal X-ray. Overall, only 1.3% of 1028 blood cultures were positive. Salmonella typhi was the most prevalent pathogen isolated (7/13, 53.8%) and S. typhi patients reported fever for a median of 7 days (range 2-14). Children with bacteraemia did not present with WHO symptoms requiring antibiotic treatment. Young children and adults had similar prevalences of positive urine cultures (24/428 and 29/498, respectively). CONCLUSION: Few outpatient fevers are caused by blood stream bacterial infection, and most adult bacteraemia would be identified by current clinical guidelines although paediatric bacteraemia may be more difficult to diagnose. While pneumonia may be overdiagnosed, urinary tract infection was relatively common. Our results emphasise the difficulty in identifying African children in need of antibiotics among the majority who do not.

8.
Gastroenterol Hepatol ; 39 Suppl 1: 102-108, 2016 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27888858

RESUMO

Acute pancreatitis (AP) is a potentially serious disease whose incidence is on the increase. Pancreas divisum does not meet the required criteria to be considered an aetiological factor. Sphincter of Oddi dysfunction may be another cause of idiopathic AP. Less invasive methods cannot replace Sphincter of Oddi manometry in diagnosis. Almost half of patients with systemic inflammatory response syndrome develop organ failure, but the mechanisms involved are not completely understood. Obesity is a risk factor for severity in AP; the cause could be the presence of free unsaturated fatty acids, which have pro-inflammatory activity. Prognosis is better in patients with isolated extra-pancreatic necrosis than in those with parenchymal necrosis or with both. The mortality rate among those with infected pancreatic necrosis is 15-20%. The "moderately severe" group is widely heterogeneous and this category may require redefinition. Laparoscopic treatment of pseudocysts is an alternative to endoscopic drainage and could be the first-line option in patients requiring cholecystectomy. The use of lumen-apposing metal stents to treat pancreatic necrosis is cost-effective. Quality of life in some patients following an attack of AP is significantly impaired even at 1 year. Aggressive fluid therapy is not superior to standard fluid therapy in preventing post-ERCP AP. The role of statins in AP prevention is still unclear. Aggressive fluid resuscitation and the use of lactated Ringer solution seem to be beneficial in the treatment of AP.


Assuntos
Pancreatite , Doença Aguda , Colangiopancreatografia Retrógrada Endoscópica , Humanos , Pâncreas , Pancreatite/complicações , Pancreatite/diagnóstico , Pancreatite/terapia , Qualidade de Vida
9.
Orv Hetil ; 157(20): 767-75, 2016 May 15.
Artigo em Húngaro | MEDLINE | ID: mdl-27156524

RESUMO

Psychogenic nonepileptic seizures are enigmatic disorders at the interface of neurology and psychiatry. Seizures resemble epileptic seizures but are not associated with electrical discharges in the brain. Symptoms typically start in early adulthood and women are far more affected than men. Video-EEG is widely considered to be the gold standard for diagnosis. Still psychogenic nonepileptic seizures are often misdiagnosed and treated as epilepsy for years that is burdensome to patients and costly to the healthcare system. Patients having psychogenic nonepileptic seizures show a high prevalence of traumatic life events, therefore, psychosocial factors are thought to play an important role in the etiology. Neurobiological factors may also contribute to the development of seizures as a subgroup of patients are characterized by cognitive impairment and subtle structural and functional brain abnormalities. Treatment includes psychotherapeutic procedures, particularly cognitive behavioral therapy and additional pharmacological interventions. This article presents an overview of the clinical context, diagnosis, etiology and treatment of psychogenic nonepileptic seizures.


Assuntos
Fármacos do Sistema Nervoso Central/uso terapêutico , Terapia Cognitivo-Comportamental , Eletroencefalografia , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/terapia , Convulsões/psicologia , Convulsões/terapia , Estresse Psicológico/complicações , Cognição , Diagnóstico Diferencial , Erros de Diagnóstico , Transtornos Dissociativos , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Prognóstico , Transtornos Psicofisiológicos/tratamento farmacológico , Transtornos Psicofisiológicos/psicologia , Fatores de Risco , Convulsões/tratamento farmacológico , Convulsões/epidemiologia , Fatores Sexuais , Estresse Psicológico/fisiopatologia , Gravação em Vídeo
10.
Rev Chil Pediatr ; 87(4): 255-60, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-26778009

RESUMO

BACKGROUND: Lymphadenopathy is a common cause for medical consultation in the child population, accounting for up to 44% in children under 5 years old. In some cases, it is required to take lymph node biopsy specimens in order to clarify the diagnosis. OBJECTIVE: To describe the clinical and histological features of paediatric patients with lymphadenopathy and lymph node biopsies. PATIENTS AND METHOD: Descriptive and retrospective study conducted in Medellin (Colombia) in a fourth-level hospital between January 1st of 2009 and December 31st of 2012. In the study, lymph node biopsy specimens were taken from children under 15 years old. Demographic, clinical and laboratory features, and characteristics of the patients were evaluated, as well as the histopathological diagnosis of the lymph node biopsies. RESULTS: From the child population, 61 children met the eligibility criteria and 33 (54.1%) of them were male with an average age of 6 years old. The most common pathological diagnoses in the study group were as follows: reactive hyperplasia (50.8%), neoplasms (27.9%), chronic granulomatous disease (4.9%), and bacterial infection (3.3%). It could be concluded from the findings in the study that Hodgkin lymphoma is very common among the neoplastic diseases, with 18%, and the most frequent location was the neck with 60.6%. CONCLUSIONS: This study demonstrates the importance of performing a differential diagnosis when approaching patients with lymphadenopathy. As reported in the world medical literature, benign origin is the most common cause of lymphadenopathy in children.


Assuntos
Neoplasias de Cabeça e Pescoço/diagnóstico , Doença de Hodgkin/diagnóstico , Linfonodos/patologia , Linfadenopatia/diagnóstico , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Linfadenopatia/patologia , Masculino , Estudos Retrospectivos
11.
Neurocirugia (Astur) ; 26(6): 296-301, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-26188354

RESUMO

Even though amygdalar lesions are a known epilepsy model in laboratory animals, the role of the amygdala in mesial temporal sclerosis is not well-known. To date, most interest has been paid to the role of the hippocampal formation. The aim of this article is to emphasize the role of the amygdala in order to render a patient seizure free. Two patients are presented who were 50 and 42 years old at the time of surgery. They suffered from seizures since childhood and were diagnosed with mesial temporal sclerosis. A temporal lobectomy with hippocampectomy and partial amygdalectomy was performed on both patients in the year 2000, with one patient operated on the right side and the other one on the left side. Both patients were seizure free after surgery for 6 years, but presented again with seizures after that time. They were evaluated again for surgery, and subdural grids were placed, together with a deep electrode in the remnants of the amygdala. The amygdalar electrode showed to be the seizure onset in the two cases, and its resection rendered both patients seizure free. These two patients show that a complete amygdalar resection is necessary to render some patients seizure free. It might be the amygdala has a greater role than previously thought.


Assuntos
Tonsila do Cerebelo/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos
12.
Orv Hetil ; 156(35): 1426-9, 2015 Aug 30.
Artigo em Húngaro | MEDLINE | ID: mdl-26299834

RESUMO

The discovery that Helicobacter pylori infection is the major cause of peptic ulcer disease revolutionised our views on the etiology and treatment of the disease. This discovery has tempted many experts to conclude that psychological factors and, specifically, stress are unimportant. However, Helicobacter pylori infection alone does not explain fully the incidence and prevalence of peptic ulcer disease. It has been demonstrated that stress can cause peptic ulcer disease even in the absence of Helicobacter pylori infection, supporting a multicausal model of peptic ulcer etiology. Psychological stress among other risk factors can function as a cofactor with Helicobacter pylori infection.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Infecções por Helicobacter/complicações , Helicobacter pylori , Úlcera Péptica/etiologia , Estresse Psicológico/complicações , Animais , Anti-Inflamatórios não Esteroides/administração & dosagem , Causalidade , Helicobacter pylori/isolamento & purificação , Humanos , Incidência , Úlcera Péptica/classificação , Úlcera Péptica/complicações , Úlcera Péptica/microbiologia , Úlcera Péptica/prevenção & controle , Úlcera Péptica/psicologia , Prevalência , Fatores de Risco , Neoplasias Gástricas/etiologia
13.
Rev Chil Pediatr ; 86(5): 373-9, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-26593889

RESUMO

Bruxism is a rhythmic masticatory muscle activity, characterized by teeth grinding and clenching. This is a phenomenon mainly regulated by the central nervous system and peripherally influenced. It has two circadian manifestations, during sleep (sleep bruxism) and awake states (awake bruxism). Bruxism is much more than just tooth wearing. It is currently linked to orofacial pain; headaches; sleep disorders; sleep breathing disorders, such as apnea and hypopnea sleep syndrome; behavior disorders, or those associated with the use of medications. It is also influenced by psycho-social and behavior factors, which means that oromandibular parafunctional activities, temporomandibular disorders, malocclusion, high levels of anxiety and stress, among others, may precipitate the occurrence of bruxism. Nowadays, its etiology is multifactorial. The dentist and the pediatrician are responsible for its early detection, diagnosis, management, and prevention of its possible consequences on the patients. The aim of this review is to update the concepts of this disease and to make health professionals aware of its early detection and its timely management.


Assuntos
Dor Facial/etiologia , Bruxismo do Sono/terapia , Desgaste dos Dentes/etiologia , Adolescente , Ansiedade/etiologia , Criança , Diagnóstico Precoce , Cefaleia/etiologia , Humanos , Bruxismo do Sono/complicações , Bruxismo do Sono/diagnóstico , Transtornos do Sono-Vigília/etiologia , Transtornos da Articulação Temporomandibular/etiologia , Desgaste dos Dentes/prevenção & controle
14.
Gastroenterol Hepatol ; 37 Suppl 3: 107-12, 2014 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-25294273

RESUMO

Acute pancreatitis (AP) is a common disease that is associated with significant morbidity and considerable mortality. In this article, developments relating to this disease that were presented in DDW 2014 are reviewed. Pancreatic steatosis could be a cause of recurrent AP. Patients with DM have an increased incidence of AP and pancreatic cancer. The use of anti-TNF drugs in inflammatory bowel disease may protect against the occurrence of AP. The presence of pancreas divisum protects against acute biliary pancreatitis. The PANCODE system for describing local complications of AP has good interobserver agreement, when the new definitions of the revised Atlanta classification are applied. The use of prophylactic antibiotics in early-stage AP predisposes the development of intra-abdominal fungal infections. Fluid sequestration in AP is linked with young age, alcoholism and indicators of systemic inflammatory response syndrome. The most common cause of mortality in AP is early onset of multiple organ failure, not pancreatic necrosis infection. Patients with AP and vitamin D deficiency could benefit from taking vitamin D supplements. Moderate fluid administration in emergencies (500-1000 mL) could be associated with better AP development.


Assuntos
Pancreatite , Doença Aguda , Doenças dos Ductos Biliares/complicações , Humanos , Pancreatite/complicações , Pancreatite/etiologia , Pancreatite/terapia
15.
Orv Hetil ; 155(9): 348-57, 2014 Mar 02.
Artigo em Húngaro | MEDLINE | ID: mdl-24566699

RESUMO

INTRODUCTION: 80% of rare diseases have a genetic origin, and 50% manifest themselves as congenital anomalies. Their adequate health care includes early recognition of genetic anomalies and prevention of recurrence. AIM: The aims of the authors were to provide correct diagnoses to patients with multiple congenital anomalies with or without mental retardation attending to the outpatient clinic of the Clinical Genetics Center at the University of Debrecen in the time interval between August 1, 2007 and March 31, 2013, establish the possibility of prenatal diagnosis, assess the distribution of different genetic mechanisms in the background of rare genetic diseases, compare them with international data, and develop an algorithm for the diagnostic approach of rare genetic diseases applicable in Hungary. METHOD: Clinical data and genetic results of patients were evaluated, and patients were categorized into one of the ten proposed etiological groups, based on which the distribution of genetic causes was defined. RESULTS: Clinical diagnosis was achieved in 64.3% of patients, confirmed genetic diagnosis in 37.8%, while 35.7% of patients remained undiagnosed. Several dysmorphic syndromes and metabolic disorders were first diagnosed in Hungary, two of which unique in the literature. CONCLUSIONS: In the centre of the authors the diagnostic effectiveness of chromosome aberrations exceeds the international standards, that of known microdeletions and dysmorphic syndromes meets international data, and the genetic diagnosis of mendelian disorders and submicroscopic copy number changes remain below international figures.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Diagnóstico Pré-Natal , Doenças Raras/diagnóstico , Doenças Raras/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Idoso , Transtornos Cromossômicos/epidemiologia , Feminino , Humanos , Hungria/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças Raras/epidemiologia
16.
Nefrologia (Engl Ed) ; 2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39054238

RESUMO

INTRODUCTION: Chronic kidney disease (CKD) of non-inherited etiology is one of the main causes of renal replacement therapy in our setting. Previous studies in other territories suggest that hereditary diseases could be one of the potential causes of this pathology, especially in younger patients. The GENSEN study will evaluate the presence of pathogenic genetic variants in subjects who have developed CKD category G5 before the age of 46 years, of non-inherited etiology. METHODS: Observational, prospective, multicenter study, which evaluates the diagnostic utility of massive high-throughput sequencing (HTS) directed to a set of genes, in the identification of the cause of CKD. Patients from all over Spain will be included, from whom a blood or saliva sample will be taken and a panel of 529 genes associated with hereditary kidney disease will be analyzed. This publication communicates the study protocol. CONCLUSION: The GENSEN study will make it possible to evaluate the diagnostic performance of the gene panel study in young subjects in our setting with the development of CKD category G5 without a clear cause. An etiological diagnosis would offer potential benefits for patients and relatives (targeted therapies, clinical trials, detection of extrarenal manifestations, evaluation of relatives for live donation, estimation of the risk of recurrence in the renal graft, genetic counseling, among others) and would allow to apply this genetic study to the nephrology of our country.

17.
Gastroenterol Hepatol ; 36 Suppl 2: 98-102, 2013 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-24160959

RESUMO

The present article analyzes the main presentations on acute pancreatitis (AP) in Digestive Disease Week 2013. Perfusion computed tomography allows early diagnosis of pancreatic necrosis. Neutrophil gelatinase-associated lipocalin predicts the development of acute renal failure, severe AP and death. Factors associated with greater fluid sequestration in AP are alcoholic etiology, an elevated hematocrit, and the presence of criteria of systemic inflammatory response syndrome; fluid sequestration is associated with a worse outcome. True pseudocysts (fluid collections without necrosis for more than 4 weeks) are a highly infrequent complication in AP. Patients with necrotic collections have a poor prognosis, especially if associated with infection. A meta-analysis on fluid therapy suggests that early aggressive fluid administration is associated with higher mortality and more frequent respiratory complications. According to a meta-analysis, enteral nutrition initiated within 24 hours of admission improves the outcome of AP compared with later initiation of enteral nutrition. Pentoxifylline could be a promising alternative in AP; a double-blind randomized study showed that this drug reduced the length of hospital and intensive care unit stay, as well as the need for intensive care unit admission. The association of octreotide and celecoxib seems to reduce the frequency of organ damage compared with octreotide alone. Mild AP can be managed in the ambulatory setting through hospital-at-home units after a short, 24-hour admission.


Assuntos
Pancreatite , Doença Aguda , Humanos , Pancreatite/diagnóstico , Pancreatite/terapia , Prognóstico
18.
Gac Sanit ; 37: 102277, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36508988

RESUMO

The word "epidemiology" was written for the first time in a report on the plague in Alghero in 1583. Although its etymology has it intricacy. For centuries it has been concerned with understanding and trying to control and prevent epidemics. During the cholera epidemic in London in 1848 the London Society of Epidemiology was formed, main instrument of public health since then. The increase in chronic diseases -supposedly no communicable- gave way to the epidemiology of black boxes and the predominance of risk factors. And later to an enormous methodological progress increasingly complex and intricate but professionally very appealing. So few epidemiologists have experience in field control of epidemics. Thus, perhaps it is convenient to return, although partially, to the origins. Looking at the future.


Assuntos
Cólera , Epidemias , Peste , Humanos , Peste/epidemiologia , Peste/história , Peste/prevenção & controle , Saúde Pública , Cólera/epidemiologia , Cólera/prevenção & controle , Cólera/história , Fatores de Risco
19.
Rev Port Cardiol ; 42(7): 655-666, 2023 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-36905982

RESUMO

Myocardial infarction with non-obstructive coronary arteries (MINOCA) is responsible for 10% of myocardial infarctions. Previously, patients were thought to have good prognosis, but evidence-based management and treatment strategies were scarce. Today, researchers and physicians recognize MINOCA as a condition with non-trivial mortality and morbidity. Therapeutic strategies are highly dependent on the underlying disease mechanism in each patient. However, to reach a diagnosis of MINOCA, a multimodal approach is required and, even with an optimal work-up, the cause remains unknown in 8-25% of patients. Research has been growing and position papers from the European Society of Cardiology (ESC) and the American Heart Association/American College of Cardiology have been published, and MINOCA has been included in the more recent ESC guidelines on myocardial infarction. Nonetheless, some clinicians still assume that the absence of coronary obstruction excludes the possibility of acute myocardial infarction. Therefore, in the present paper, we aim to compile and present the available data on the etiology, diagnosis, treatment, and prognosis of MINOCA.


Assuntos
Doença da Artéria Coronariana , Infarto do Miocárdio , Humanos , MINOCA , Angiografia Coronária/efeitos adversos , Prognóstico , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/etiologia , Infarto do Miocárdio/terapia , Fatores de Risco , Vasos Coronários , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/etiologia , Doença da Artéria Coronariana/terapia
20.
Orv Hetil ; 164(13): 488-498, 2023 Apr 02.
Artigo em Húngaro | MEDLINE | ID: mdl-36966400

RESUMO

The standard process of basic and advanced life support can be complicated by a number of special circumstances. Over the last decade, the European Resuscitation Council developed an increasingly detailed guideline regarding the diagnosis and therapy of these situations. In our short review, we summarize the most important recommendations for the management of cardiopulmonary resuscitation in special circumstances. The proper training in non-technical skills and teamwork is crucial in the management of these situations. In addition, extracorporeal circulatory and respiratory support play an increasingly important role in some special circumstances with appropriate patient selection and timing. We also summarize the therapeutic options regarding the reversible causes of cardiac arrest as well as the steps of diagnostic and treatment methods in some special situations (cardiopulmonary resuscitation in the operating room, after cardiac surgery, in a catheterisation laboratory, after sudden cardiac arrest at dentistry or dialysis station) and among special patient populations (patient with asthma or COPD, neurologic disorders, obese patient, pregnant woman). Orv Hetil. 2023; 164(13): 488-498.


Assuntos
Reanimação Cardiopulmonar , Oxigenação por Membrana Extracorpórea , Parada Cardíaca , Feminino , Gravidez , Humanos , Parada Cardíaca/terapia , Morte Súbita Cardíaca , Oxigenação por Membrana Extracorpórea/efeitos adversos
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