Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 35
Filtrar
1.
Am J Case Rep ; 25: e943915, 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38941282

RESUMO

BACKGROUND Parinaud oculoglandular syndrome is a unilateral granulomatous palpebral conjunctivitis associated with preauricular, submandibular, and cervical lymphadenopathies. Several infectious diseases can cause Parinaud oculoglandular syndrome, usually with a conjunctival entry. The most common underlying pathology is cat scratch disease, followed by the oculoglandular form of tularemia. Diagnosis is usually a serious challenge as these infections are themselves rare. On the other hand, Parinaud oculoglandular syndrome may be a rare manifestation of more common disorders (eg, tuberculosis, syphilis, mumps, herpes simplex and Epstein-Barr virus, adenovirus, Rickettsia, Sporothrix, Chlamydia infections). CASE REPORT We present the case of a 66-year-old man with granulomatous conjunctivitis and ipsilateral preauricular, submandibular, and upper cervical lymphadenopathies following a superficial corneal injury. Although the systematic amoxicillin/clavulanic acid and metronidazole antibiotic therapy started immediately at admission, the suppuration of the lymph nodes required surgical drainage. Based on his anamnesis (sheep breeding; a twig scratching his eye 2 days before the initial attendance) and symptoms, a zoonosis, namely the oculoglandular form of tularemia, was suspected, empiric ciprofloxacin therapy was administered, and the patient recovered without sequelae. The Francisella tularensis infection was eventually confirmed by microagglutination serologic assay. CONCLUSIONS If Parinaud oculoglandular syndrome is diagnosed and cat scratch fever as the most common etiology is not likely, other zoonoses, especially the oculoglandular form of tularemia, should be suspected. Serology is the most common laboratory method of diagnosing tularemia. Empiric fluoroquinolone (ciprofloxacin) or aminoglycoside (gentamicin or streptomycin) antibiotic therapy should be started immediately at the slightest suspicion of oculoglandular tularemia.


Assuntos
Francisella tularensis , Tularemia , Humanos , Masculino , Tularemia/diagnóstico , Tularemia/complicações , Tularemia/tratamento farmacológico , Idoso , Francisella tularensis/isolamento & purificação , Conjuntivite Bacteriana/diagnóstico , Conjuntivite Bacteriana/microbiologia , Conjuntivite Bacteriana/tratamento farmacológico , Síndrome , Antibacterianos/uso terapêutico , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/diagnóstico , Linfadenopatia/microbiologia
2.
J Int Med Res ; 52(4): 3000605241237876, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38606757

RESUMO

Differentiation between granulomatosis with polyangiitis (GPA) limited to the upper airways and cocaine-induced midline destructive lesion (CIMDL) may be particularly difficult because of their common histopathologic features and antineutrophil cytoplasmic antibody (ANCA) profiles. We herein present a case involving a young woman with an initial diagnosis of GPA based on upper and lower airway manifestations and constitutional symptoms, histopathologic evidence of granulomas, a positive cytoplasmic ANCA indirect immunofluorescent test result, and proteinase 3 positivity by enzyme-linked immunosorbent assay (ELISA). CIMDL was confirmed based on the appearance of a hard palate perforation, positivity for methylecgonine on urine toxicology, a positive perinuclear ANCA indirect immunofluorescent test result, and subsequent human neutrophil elastase (HNE) ANCA positivity by ELISA. Finally, based on the coexistence of CIMDL, constitutional symptoms, and lower airway manifestations, the diagnosis was modified to cocaine-induced GPA mimic. Urine toxicology for cocaine and HNE ELISA are indicated in young patients with GPA who develop limited airway disease to check for the presence of CIMDL and cocaine-/levamisole-induced ANCA-associated vasculitis. Continued abstinence from cocaine is the first-choice therapy for both CIMDL and cocaine-induced GPA mimic.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Transtornos Relacionados ao Uso de Cocaína , Cocaína , Granulomatose com Poliangiite , Feminino , Humanos , Anticorpos Anticitoplasma de Neutrófilos , Granulomatose com Poliangiite/diagnóstico , Granulomatose com Poliangiite/complicações , Transtornos Relacionados ao Uso de Cocaína/complicações , Transtornos Relacionados ao Uso de Cocaína/diagnóstico , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações
3.
Orv Hetil ; 164(44): 1755-1763, 2023 Nov 05.
Artigo em Húngaro | MEDLINE | ID: mdl-37930404

RESUMO

INTRODUCTION: Skin cancers are the most common human neoplasms with head and neck localization in 90% of cases. Primary therapy is surgery, resulting in absolute skin defects in a number of cases. The reconstruction of these is performed with local skin flaps showing identical colour, texture and follicle density with the defect site. OBJECTIVE: In the present study, we report our preliminary experience with the head and neck application of double hatchet flap, a random pattern flap. METHOD: In our study, results of patients undergoing double hatchet flap reconstruction in the period between November 2021 and June 2023 were analyzed prospectively in terms of tumor site, defect size, method of anesthesia, and early and late complication rates. Patients followed up to a minimum of 6 months were asked to fill in a questionnaire concerning their postoperative status. RESULTS: A total of 13 patients with a mean age of 79.6 years underwent double hatchet flap reconstruction. The most frequent defect site was the scalp and the mean defect size was 40.5 × 32.1 mm. Histopathological examination showed R0 resection of the tumor in each case. The closure of the skin defect was insufficient in 1 case. Partial flap necrosis and mimical paralysis were observed as early and late complications in 2 cases, respectively. The most bothersome sequel reported by patients was scarring. DISCUSSION: For selection of a local flap, the following factors need to be considered: localization and size of the defect, skin elasticity, amount of adjacent skin to mobilize, direction of relaxed skin tension lines and wrinkles, and aesthetic units. If the principles of the hatchet flap design (the ratio of flap length and width and pedicle width to the defect size) are adhered, the resulting technique is reliable with an acceptable complication rate. CONCLUSION: The double hatchet flap as a random pattern flap is a fast, reliable technique especially for the closure of 2-5 cm skin defects of the scalp and forehead. Orv Hetil. 2023; 164(44): 1755-1763.


Assuntos
Anestesia , Anestesiologia , Neoplasias Cutâneas , Humanos , Idoso , Pele , Neoplasias Cutâneas/cirurgia , Cabeça
4.
J Clin Med ; 10(17)2021 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-34501220

RESUMO

Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].

5.
Infect Genet Evol ; 93: 104948, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34089910

RESUMO

Interaction of the long control region (LCR) and the E2 protein of HPV11s was studied by in silico modelling and in vitro functional analysis. Genomes of HPV11s from fifteen (six known and nine novel) patients (two solitary papillomas, eleven respiratory papillomatoses of different severity, one condyloma acuminatum and one cervical atypia) were sequenced; E2 polymorphisms were analysed in silico by protein modelling. E2 and LCR variants were cloned into pcDNA3.1+ expression vector and into pALuc reporter vector, respectively, transfected to HEp2 cells alone or in different combinations and the luciferase activity was measured. In the E2, the ubiquitous polymorphism K308R caused stronger binding between the dimers but did not alter DNA binding; E2s with this polymorphism were significantly less efficient than the reference in promoting LCR activity. The unique polymorphism Q86K changed the negative surface charge of E2 (Q86) to positive (K86). The unique polymorphisms S245F and N247T in the hinge region disrupt a probable phosphorylation site in a RXXS motif targeted by protein kinase A and B, but do not affect directly the amino acids critical to nuclear transport. Both unique patterns partly restored the LCR activating potential disrupted by K308R. A unique E2/E4 ORF with a 58-bp deletion leading to a frameshift and an early stop codon resulted in a practically nonfunctional E2, and was associated with a papillomatosis with dysplasia. When testing existing LCR-E2 combinations, LCR with intrinsically lower enhancer capacity was only marginally activated by its E2 (R308 and the deletion mutant), and did not significantly exceed the activity of the reference LCR without E2. Combined with more potent LCRs associated with more severe disease, the activity was significantly higher, but still significantly lower than LCRs with reference E2. In summary, LCR-E2 interaction determined by their polymorphisms may explain, at least partly, differences in disease severity.


Assuntos
Papillomavirus Humano 11/genética , Papiloma/virologia , Infecções por Papillomavirus/virologia , Polimorfismo Genético , Proteínas Virais/genética , Condiloma Acuminado/virologia , Feminino , Humanos , Masculino , Infecções Respiratórias/virologia , Índice de Gravidade de Doença
6.
Life (Basel) ; 11(3)2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33807613

RESUMO

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diagnostic work on cases with certain bleeding disorders. Here we report only those, in whom NGS was indicated due to uncertainty of diagnosis or if genetic confirmation of initial diagnosis was required. Based on clinical and/or laboratory suspicion of von Willebrand disease (vWD, n = 63), hypo-or dysfibrinogenemia (n = 27), hereditary hemorrhagic telangiectasia (HHT, n = 10) and unexplained activated partial thromboplastin time (APTT) prolongation (n = 1), NGS using Illumina platform was performed. Gene panel covered 14 genes (ACVRL1, ENG, MADH4, GDF2, RASA1, F5, F8, FGA, FGB, FGG, KLKB1, ADAMTS13, GP1BA and VWF) selected on the basis of laboratory results. We identified forty-seven mutations, n = 29 (6 novel) in vWD, n = 4 mutations leading to hemophilia A, n = 10 (2 novel) in fibrinogen disorders, n = 2 novel mutations in HHT phenotype and two mutations (1 novel) leading to prekallikrein deficiency. By reporting well-characterized cases using standardized, advanced laboratory methods we add new pieces of data to the continuously developing "bleeding disorders databases", which are excellent supports for clinical patient management.

7.
Orv Hetil ; 162(15): 595-600, 2021 04 02.
Artigo em Húngaro | MEDLINE | ID: mdl-33798105

RESUMO

Összefoglaló. A lateralis cysticus nyaki terimék két leggyakoribb oka a branchiogen cysta és a cysticus nyaki áttét. Az átfedo lokalizáció (a leggyakrabban a IIA nyaki régióban), a betegek életkora és az esetenként hirtelen kezdet alapján a két leggyakoribb ok differenciáldiagnózisa nagy kihívást jelenthet. Egy hirtelen fellépo fájdalmas, bal oldali nyaki duzzanattal, dysphagiával és lázzal jelentkezo 72 éves férfi esetét ismertetjük. A nyak komputertomográfiás vizsgálata egy 6 cm legnagyobb átméroju, vastag falú, többrekeszes cysticus terimét igazolt. Infektív branchiogen cysta lehetoségére gondolva az elváltozást eltávolítottuk. A szövettan azonban p16-pozitív laphámrákot igazolt. A primer tumort végül az ipsilateralis tonsilla palatina állományában sikerült azonosítani. A beteg definitív radioterápiában részesült, és 18 hónappal a diagnózis után tumormentes. A nyaki cystákon, az infektív nyaki cystákon és a cysticus metastasisokon kívül a humán papillómavírussal összefüggo szájgarati laphámrákok infektív cysticus vagy necroticus metastasisait is figyelembe kell venni a lateralis cysticus nyaki terimék differenciáldiagnózisában. Orv Hetil. 2020; 162(15): 595-600. Summary. Branchial cleft cysts and cystic neck metastases are the two most common causes of cystic lateral neck masses. Based on the overlapping location (neck level IIA), patient age at onset and the occasionally sudden onset, their differential diagnosis is challenging. We present a 72-year-old male presenting with a suddenly emerging painful, left-sided neck swelling, dysphagia and fever. Computed tomography showed a 6 cm thick-walled multicystic mass. With the suspected diagnosis of an infected branchial cleft cyst, the lesion was removed. Histology confirmed p16 positive squamous cell carcinoma. Primary tumor was identified in the ipsilateral palatine tonsil. Definive radiotherapy was performed and the patient is free of disease at the 18-month follow-up. Beyond pure and infected branchial cleft cysts and pure cystic metastases, infected cystic or necrotic metastasis of human papillomavirus associated oropharyngeal squamous cell carcinoma should be included in the differential diagnosis of cystic lateral neck lesions. Orv Hetil. 2021; 162(15): 595-600.


Assuntos
Neoplasias de Cabeça e Pescoço , Inflamação , Idoso , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Humanos , Inflamação/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X
8.
J Clin Med ; 10(8)2021 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-33919892

RESUMO

A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event. We provide a systematic literature review of the sporadically reported founder effects in hereditary hemorrhagic telangiectasia (HHT). All publications from the ACVRL1, ENG and SMAD4 Mutation Databases and publications searched for terms "hereditary hemorrhagic telangiectasia" and "founder" in PubMed and Scopus, respectively, were extracted. Following duplicate removal, 141 publications were searched for the terms "founder" and "founding" and the etymon "ancest". Finally, 67 publications between 1992 and 2020 were reviewed. Founder effects were graded upon shared area of ancestry/residence, shared core haplotypes, genealogy and prevalence. Twenty-six ACVRL1 and 12 ENG variants with a potential founder effect were identified. The bigger the cluster of families with a founder mutation, the more remarkable is its influence to the populational ACVRL1/ENG ratio, affecting HHT phenotype. Being aware of founder effects might simplify the diagnosis of HHT by establishing local genetic algorithms. Families sharing a common core haplotype might serve as a basis to study potential second-hits in the etiology of HHT.

9.
J Int Med Res ; 48(2): 300060519860971, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31510822

RESUMO

Hereditary haemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative with HHT. Diagnosis is definite if three or four criteria are present. This case report describes a 19-year-old male with incidentally detected polycythaemia and an associated soft-tissue opacity over the left lower lobe on his frontal chest radiogram. He had experienced dyspnoea on exertion since infancy and clubbing at physical examination. Polycythaemia vera, chronic obstructive pulmonary disease, sleep apnoea and cyanotic congenital heart disease were excluded. Chest computed tomography (CT) was initially refused by the patient, but 3 years later he presented with severe epistaxis. Considering the unvarying soft tissue mass and erythrocytosis, an HHT-associated pulmonary AVM (PAVM) was eventually confirmed by chest CT. A pathogenic family-specific ENG c.817-2 A>C mutation was detected in the patient. The large PAVM was successfully treated using AMPLATZER™ vascular plug embolization. A combination of the multisystemic nature of his symptoms, the age-related penetrance of HHT symptoms and insufficient patient compliance delayed the diagnosis of HHT in this current case.


Assuntos
Fístula Arteriovenosa , Malformações Arteriovenosas , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária , Adulto , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Epistaxe , Humanos , Masculino , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/genética , Adulto Jovem
10.
Pathol Oncol Res ; 26(4): 2783-2788, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30685840

RESUMO

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide prevalence of 1:5000-1:10000. We introduce our algorithm for the stratified population screening of HHT. Probands are selected from the consecutive hospital database review for HHT (I7800) and recurrent epistaxis (R0400) and the review of patient records referred by family practicioners. A proportion of probands might be de novo diagnosed with HHT in the 10-year study period. The checkup of probands consists of physical examination, arteriovenous malformation exploration and and genetic testing (ACVRL1 and ENG sequence analysis). The family screening of HHT consists of physical examination and screening for the family-specific mutation of each at-risk individual, and furthermore, arteriovenous malformation exploration in individuals with suspected/definite HHT and/or carrying the mutation. Twenty-five definite HHT patients were explored: 7 of them by the I7800 review, 1 by the R0400 review, 3 were de novo diagnosed, and the remaining 14 were explored by the systematic family screening. Considering the 20 patients alive at the end of the study period and the unavailable 5 potential HHT patients and 12 at-risk family members, the HHT prevalence is estimated to be 1:6090-1:11267 in our study area, implying our algorithm's effectivity in the stratified population screening of HHT.


Assuntos
Receptores de Activinas Tipo II/genética , Biomarcadores/análise , Endoglina/genética , Programas de Rastreamento/métodos , Mutação , Vigilância da População , Telangiectasia Hemorrágica Hereditária/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Seguimentos , Testes Genéticos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Prognóstico , Telangiectasia Hemorrágica Hereditária/genética
11.
Orv Hetil ; 160(18): 710-719, 2019 May.
Artigo em Húngaro | MEDLINE | ID: mdl-31030535

RESUMO

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 - 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of HHT cases have heterozygous family-specific mutations in the ENG or ACVRL1 genes. Aim: We investigated 23 Hungarian HHT families, established the genetic diagnosis, executed family-screening and confirmed founder effects. Method: Probands were identified by the stratified population screening of the primary attendance area of our institution and from individuals contacting our study group voluntarily. Diagnosis is based on the otorhinolaryngological physical examination completed with characteristic telangiectasis sites, a visceral arteriovenous malformation screening and the sequence analysis of ENG and ACVRL1 genes. The family screening consists of physical examination and genetic screening for the family-specific mutation, followed by the arteriovenous malformation screening in patients with definite/suspected HHT and/or in individuals with the mutation. Results: Sixty-three individuals with family-specific mutations were identified in 22 families, 48 of them with definite and 12 with suspected HHT. Seven ENG and ACVRL1 mutations were detected, respectively; most of these are pathogenic. Three founder mutations were observed. One proband with definite HHT had wild-type alleles in all tested HHT-specific loci. Conclusions: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710-719.


Assuntos
Receptores de Activinas Tipo II/genética , Endoglina/genética , Mutação/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Alelos , Endoglina/metabolismo , Predisposição Genética para Doença , Heterozigoto , Humanos , Análise de Sequência
12.
Clin Respir J ; 11(1): 90-97, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25919395

RESUMO

BACKGROUND AND AIMS: Alpha1 -antitrypsin deficiency (AATD) predisposes individuals to early-onset emphysema. Despite its prevalence, especially among patients with chronic obstructive pulmonary disease, AATD is still underdiagnosed. The aim of this study is to identify individuals with lung disease and severe AATD in central-eastern Europe. METHODS: Subjects with respiratory symptoms that could be indicative of AATD provided blood samples as dried blood spot. The alpha1 -antitrypsin (AAT) concentration was determined by nephelometry and, if lower than 1.70 mg/dL in dried blood spot (equivalent to 1.04 g/L in serum), polymerase chain reaction was used to detect the PiS and PiZ alleles. Isoelectric focusing was used for confirmation of doubtful genotype results. RESULTS: From 13 countries, 11 648 subjects were included. Genotyping of 1404 samples with AAT levels <1.70 mg/dL revealed 71 (5.06%) PiS, 151 (10.8%) PiZ, 1 (0.071%) PiSS, 8 (0.57%) PiSZ and 32 (2.28%) PiZZ. Phenotyping of 1363 samples negative for the S and Z alleles or with PiS and PiZ genotype showed two (0.147%) PiZ(rare) and two (0.147%) Pi(null)(null). The countries with the highest rate of severe AATD were Croatia, Russia and Slovakia. By regions, the Baltic countries area showed the highest rate of both PiZ and severe AATD (2.45% and 1.20%, respectively) while the lowest rates were observed in the Balkan Peninsula (0.48% and 0.31%, respectively). CONCLUSION: This study confirms the need for targeted testing of symptomatic patients and provides AATD genotype data from countries for which only some estimates of prevalence were available until now.


Assuntos
Pneumopatias/diagnóstico , Deficiência de alfa 1-Antitripsina/diagnóstico , Adulto , Europa (Continente)/epidemiologia , Feminino , Humanos , Focalização Isoelétrica , Pneumopatias/sangue , Pneumopatias/epidemiologia , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Nefelometria e Turbidimetria , alfa 1-Antitripsina/sangue , Deficiência de alfa 1-Antitripsina/sangue , Deficiência de alfa 1-Antitripsina/epidemiologia
13.
Pathol Oncol Res ; 20(4): 923-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24710824

RESUMO

Occurrence of genetic and epigenetic alterations affecting p14ARF and p16INK4A were investigated in tumour samples of 37 oral (OSCC) and 28 laryngeal squamous cell cancer (LSCC) patients, and compared to exfoliated buccal epithelial cells of 68 healthy controls. Presence of deletions and mutations/polymorphisms affecting exons were examined using sequencing. Methylation status of promoters was assessed by methylation-specific PCR. Chi-square and Fisher's exact tests were used to compare frequency of events. Exon deletions were found in four controls, one OSCC and 22 LSCC patients; the latter significantly differed from controls (p < 0.001). Only two mutations (T24610A and C24702A) were in p16 exon 1 of two OSCC patients. Polymorphisms G28575A (Ala140Thr), G31292C (C540G) and G28608A were found in both patient groups. The p14 promoter was unmethylated in 86.7 % of OSCC and in 85.7 % of LSCC patients; for the p16 promoter these rates were 69.0 % and 76.2 % for OSCC and LSCC patients, respectively. Combining the two patient groups, unmethylated promoter was significantly less frequent in case of both p14 and p16 (p = 0.043 and p = 0.001, respectively) compared to the control group. In summary, exon deletion may be important in LSCC, while promoter methylation was relatively frequent in both patient groups.


Assuntos
Carcinoma de Células Escamosas/genética , Inibidor p16 de Quinase Dependente de Ciclina/genética , Epigênese Genética/genética , Deleção de Genes , Neoplasias Laríngeas/genética , Neoplasias Bucais/genética , Proteína Supressora de Tumor p14ARF/genética , Adulto , Idoso , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/mortalidade , Estudos de Casos e Controles , Metilação de DNA , Feminino , Seguimentos , Inativação Gênica , Humanos , Hungria/epidemiologia , Neoplasias Laríngeas/epidemiologia , Neoplasias Laríngeas/mortalidade , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/epidemiologia , Neoplasias Bucais/mortalidade , Mutação/genética , Prognóstico , Regiões Promotoras Genéticas/genética , Taxa de Sobrevida
14.
Orv Hetil ; 154(33): 1287-90, 2013 Aug 18.
Artigo em Húngaro | MEDLINE | ID: mdl-23933606

RESUMO

Incidence of infertility increased in the past years and it affects 15% of couples. Female and male factors are responsible in 40% and 40% of the cases, respectively, while factors present in both females and males can be found in 20% of cases. Female factors can be further divided into organic and functional ones. Function of the female organs can be evaluated in an outpatient setting by well-developed laboratory techniques but evaluation of the uterine cavity and inspection of the tubal patency have been traditionally carried out in one-day surgery. However, the latter can be performed under ambulatory setting with the use of office hysteroscopy, so that the use of operating theatre and staff costs can be saved. Using selective pertubation for the evaluation of tubal patency via office hysteroscopy can reduce cost further. The new methods in infertility workup which can be performed in ambulatory setting have several advantages for the patients.


Assuntos
Assistência Ambulatorial , Doenças das Tubas Uterinas/diagnóstico , Testes de Obstrução das Tubas Uterinas , Histeroscopia , Infertilidade Feminina/etiologia , Visita a Consultório Médico , Procedimentos Cirúrgicos Ambulatórios , Doenças das Tubas Uterinas/fisiopatologia , Testes de Obstrução das Tubas Uterinas/métodos , Feminino , Humanos , Infertilidade Feminina/diagnóstico , Infertilidade Masculina , Masculino , Pacientes Ambulatoriais
15.
Clin Nephrol ; 79(5): 370-9, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23320967

RESUMO

AIMS: Treatment of renal anemia with erythropoietic stimulating agents sometimes increases blood pressure. It is uncertain whether this is due to direct vasoconstriction and/or increased red blood cell mass. MATERIALS AND METHODS: We conducted a post-hoc analysis of 160 critically ill patients in the EARLYARF trial with elevated urinary γ-glutamyltranspeptidase and alkaline phosphatase, indicating acute kidney injury. Patients received 2 doses of intravenous (i.v.) epoetin (500 U/kg), 24 hours apart, or placebo, in a randomized, double-blind study design. Hourly intra-arterial mean arterial pressure (MAP), and norepinephrine equivalent dose (NED: determined using equipotency conversion factors for doses of epinephrine, vasopressin, phenlyephrine, or dopamine) were extracted from clinical records. The differences between baseline and maximum MAP and NED (ΔMAP and ΔNED) over 4, 24, 72-hour, and 30-day periods following study drug administration were compared between groups. RESULTS: At baseline, MAP was 78 ± 14 mmHg in the epoetin group and 81 ± 15 mmHg in the placebo group (p = 0.22). There were no differences between groups in ΔMAP (6 ± 14 versus 7 ± 14 mmHg; p = 0.53), in ΔNED, or in ΔMAP adjusted for ΔNED at 4 hours, or at any time points. A subgroup analysis of only those patients not requiring vasopressor support (n = 71) also showed no differences between epoetin and placebo for all outcomes. CONCLUSION: We concluded that intravenous high dose epoetin does not acutely increase blood pressure, suggesting no acute vasoconstrictor effect in this setting.


Assuntos
Injúria Renal Aguda/fisiopatologia , Pressão Sanguínea/efeitos dos fármacos , Eritropoetina/farmacologia , Adulto , Idoso , Estado Terminal , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Recombinantes/farmacologia , Estudos Retrospectivos
16.
Arch Gynecol Obstet ; 287(5): 985-8, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23250340

RESUMO

INTRODUCTION: The aim of the study was to evaluate the factors that may affect experienced pain during office hysteroscopy performed without anesthesia in an outpatient setting. MATERIALS AND METHODS: We enrolled the patients into six groups, differentiated by parity, menopausal status and type of the sheath that was used for the examination. During office hysteroscopy the pain score was recorded using a visual analog scale. CONCLUSION: Statistical analysis of the results revealed no evidence that parity, menopausal status, or the thickness of the instrument influence the level of experienced pain.


Assuntos
Assistência Ambulatorial/métodos , Histeroscopia/instrumentação , Menopausa , Medição da Dor , Paridade , Adulto , Feminino , Humanos , Medição da Dor/métodos , Pós-Menopausa , Estudos Prospectivos
17.
J Minim Invasive Gynecol ; 19(5): 627-30, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22935304

RESUMO

STUDY OBJECTIVE: To estimate the accuracy of the assessment of tubal patency using selective pertubation with office hysteroscopy compared with laparoscopy in infertile women. METHOD: Selective pertubation with office hysteroscopy was also performed in 35 infertile patients prior to their scheduled laparoscopy and chromohydrotubation as part of infertility evaluation. We compared the findings of the two methods. RESULTS: Hysteroscopic tubal assessment had a 82.9% accuracy with the laparoscopic dye method taken as reference, with a positive predictive value of 87.5%, and a negative predictive value of 76.7%. No complication or failure occurred. CONCLUSION: Selective pertubation with office hysteroscopy is a useful method for the assessment of tubal patency. As a minimal invasive office procedure it can be offered as a first line method for the evaluation of the uterine cavity and the tubes in infertile women.


Assuntos
Doenças das Tubas Uterinas/diagnóstico , Histeroscopia/métodos , Infertilidade Feminina/etiologia , Laparoscopia , Adulto , Corantes , Doenças das Tubas Uterinas/complicações , Feminino , Humanos , Histeroscópios , Histeroscopia/instrumentação , Azul de Metileno , Valor Preditivo dos Testes , Curva ROC , Método Simples-Cego
18.
Orv Hetil ; 153(4): 144-51, 2012 Jan 29.
Artigo em Húngaro | MEDLINE | ID: mdl-22257511

RESUMO

This review summarizes the possible options for the prevention of preeclampsia based on important factors of patomechanism. The effects of antioxidants have been described in numerous clinical researches based on the oxidative hypothesis. Another important factor is the change of nitric oxide activity. Nitric oxide donors are able to compensate the symptoms of preeclampsia. The inverse relationship between the calcium intake and gestational hypertension has been known for a long time. The calcium supplementation seems to be a good opportunity to prevent preeclampsia. With low molecular weight heparins we can intervene in the patomechanisms of preeclampsia by antithrombocyte effects, vasoactive properties and impact on throphoblast cell morphology and differentiation. Thrombocyte aggregation inhibitors were examined in number of studies because they reduced thromboxane mediated vasoconstriction and inhibited placental thrombosis. Several studies verify whether prophylaxis with low molecular weight heparins and low dose aspirin could improve pregnancy outcome in preeclampsia.


Assuntos
Antioxidantes/uso terapêutico , Aspirina/uso terapêutico , Compostos de Cálcio/administração & dosagem , Heparina de Baixo Peso Molecular/uso terapêutico , Inibidores da Agregação Plaquetária/uso terapêutico , Pré-Eclâmpsia/prevenção & controle , Anticoagulantes/uso terapêutico , Aspirina/administração & dosagem , Cálcio/metabolismo , Suplementos Nutricionais , Feminino , Heparina de Baixo Peso Molecular/administração & dosagem , Humanos , Óxido Nítrico/metabolismo , Inibidores da Agregação Plaquetária/administração & dosagem , Pré-Eclâmpsia/tratamento farmacológico , Pré-Eclâmpsia/metabolismo , Pré-Eclâmpsia/fisiopatologia , Gravidez
19.
Orv Hetil ; 152(43): 1739-44, 2011 Oct 23.
Artigo em Húngaro | MEDLINE | ID: mdl-21983400

RESUMO

UNLABELLED: Psychoneuroimmunologic studies on positive emotions are few, and their clinical relevance is limited. AIMS: This "SHoRT" (Smiling Hospital Research Team) study evaluates the effects that Smiling Hospital artists have on hospitalized children. METHODS: Blood samples were taken in a non-painful way through branules in an accredited Infectology Ward, 30 minutes before and 1 hour after a visit of tale tellers, puppeteers and handicraft artists. 24 children were visited and 9 were included in the control group. Blood lymphocyte counts and Th1/Th2 cytokine levels were determined. Artists evaluated their effect on a subjective scale. RESULTS: In the visited group, the increase of lymphocytes was 8.43% higher, the decrease was 12.45% lower, and the proportion of children showing increased lymphocyte counts was more increased. Changes were more marked after more successful visits. Authors found non-significant, still considerable changes in interferon-γ level (p < 0.055) and in Th1/Th2 cytokine ratios. CONCLUSIONS: This pediatric study suggests that immunological changes may develop when more attention is given to hospitalized children.


Assuntos
Criança Hospitalizada , Citocinas/imunologia , Felicidade , Sorriso , Células Th1/imunologia , Células Th2/imunologia , Adolescente , Criança , Criança Hospitalizada/psicologia , Criança Hospitalizada/estatística & dados numéricos , Pré-Escolar , Citocinas/sangue , Feminino , Citometria de Fluxo , Fundações , Hospitais de Ensino , Humanos , Hungria , Lactente , Interferon gama/sangue , Interleucinas/sangue , Linfotoxina-alfa/sangue , Masculino , Fatores de Tempo
20.
Orv Hetil ; 152(6): 205-11, 2011 Feb 06.
Artigo em Húngaro | MEDLINE | ID: mdl-21278025

RESUMO

This review summarizes the hemorheological changes during gestation and their clinical relevance in pre-eclampsia. The gestational disease named pre-eclampsia, characterized by proteinuria (more than 0.3 g/day) and hypertension (blood pressure above 140/90 mmHg), exists from the 20th gestational week until the sixth postpartum week. Its etiology is complex; the pathomechanism mainly involves disturbances in cross talks among the vegetative system, the placenta and the circulatory system. Soluble factors of placenta mediate circulatory changes, which result in adaptive responses in both vegetative and circulatory systems. Derailment of this adaption, however, leads to increased turbulence and local damages in cellular elements of the circulatory system. The initial local lesion progresses to a generalized form. Later, these events will continue to strengthen their own cycle. As a result, an unstable circulatory state will be established, which causes organ damages.


Assuntos
Coagulação Sanguínea , Pré-Eclâmpsia/sangue , Adulto , Plaquetas/patologia , Agregação Eritrocítica , Eritrócitos/patologia , Feminino , Hemorreologia , Humanos , Hipertensão/sangue , Leucócitos/patologia , Placenta/metabolismo , Agregação Plaquetária , Período Pós-Parto , Pré-Eclâmpsia/fisiopatologia , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Proteinúria/sangue
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...