RESUMEN
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.
Asunto(s)
Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos , Trastornos Relacionados con Cocaína , Cocaína , Granulomatosis con Poliangitis , Femenino , Humanos , Anticuerpos Anticitoplasma de Neutrófilos , Granulomatosis con Poliangitis/diagnóstico , Granulomatosis con Poliangitis/complicaciones , Trastornos Relacionados con Cocaína/complicaciones , Trastornos Relacionados con Cocaína/diagnóstico , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/complicacionesRESUMEN
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.
Asunto(s)
Francisella tularensis , Tularemia , Humanos , Masculino , Tularemia/diagnóstico , Tularemia/complicaciones , Tularemia/tratamiento farmacológico , Anciano , Francisella tularensis/aislamiento & purificación , Conjuntivitis Bacteriana/diagnóstico , Conjuntivitis Bacteriana/microbiología , Conjuntivitis Bacteriana/tratamiento farmacológico , Síndrome , Antibacterianos/uso terapéutico , Trastornos de la Motilidad Ocular/etiología , Trastornos de la Motilidad Ocular/diagnóstico , Linfadenopatía/microbiologíaRESUMEN
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.
Asunto(s)
Lesión Renal Aguda/fisiopatología , Presión Sanguínea/efectos de los fármacos , Eritropoyetina/farmacología , Adulto , Anciano , Enfermedad Crítica , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Recombinantes/farmacología , Estudios RetrospectivosRESUMEN
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.
Asunto(s)
Atención Ambulatoria/métodos , Histeroscopía/instrumentación , Menopausia , Dimensión del Dolor , Paridad , Adulto , Femenino , Humanos , Dimensión del Dolor/métodos , Posmenopausia , Estudios ProspectivosRESUMEN
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.
Asunto(s)
Atención Ambulatoria , Enfermedades de las Trompas Uterinas/diagnóstico , Pruebas de Obstrucción de las Trompas Uterinas , Histeroscopía , Infertilidad Femenina/etiología , Visita a Consultorio Médico , Procedimientos Quirúrgicos Ambulatorios , Enfermedades de las Trompas Uterinas/fisiopatología , Pruebas de Obstrucción de las Trompas Uterinas/métodos , Femenino , Humanos , Infertilidad Femenina/diagnóstico , Infertilidad Masculina , Masculino , Pacientes AmbulatoriosRESUMEN
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.
Asunto(s)
Anestesia , Anestesiología , Neoplasias Cutáneas , Humanos , Anciano , Piel , Neoplasias Cutáneas/cirugía , CabezaRESUMEN
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.
Asunto(s)
Enfermedades de las Trompas Uterinas/diagnóstico , Histeroscopía/métodos , Infertilidad Femenina/etiología , Laparoscopía , Adulto , Colorantes , Enfermedades de las Trompas Uterinas/complicaciones , Femenino , Humanos , Histeroscopios , Histeroscopía/instrumentación , Azul de Metileno , Valor Predictivo de las Pruebas , Curva ROC , Método Simple CiegoRESUMEN
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.
Asunto(s)
Antioxidantes/uso terapéutico , Aspirina/uso terapéutico , Compuestos de Calcio/administración & dosificación , Heparina de Bajo-Peso-Molecular/uso terapéutico , Inhibidores de Agregación Plaquetaria/uso terapéutico , Preeclampsia/prevención & control , Anticoagulantes/uso terapéutico , Aspirina/administración & dosificación , Calcio/metabolismo , Suplementos Dietéticos , Femenino , Heparina de Bajo-Peso-Molecular/administración & dosificación , Humanos , Óxido Nítrico/metabolismo , Inhibidores de Agregación Plaquetaria/administración & dosificación , Preeclampsia/tratamiento farmacológico , Preeclampsia/metabolismo , Preeclampsia/fisiopatología , EmbarazoRESUMEN
Hysteroscopy is a widely used endoscopic method, the "gold standard" for the examination of uterine cavity changes. Office hysteroscopy is an intervention that makes the accomplishment of ambulant examination, opposite to the traditional method. Due to the small diameter of the device the anesthesia is unnecessary, because there is no need of the dilatation of the cervix. Indications of the examination are wide-ranging. Besides the abnormal uterine bleeding, it can be used in the examination of infertility, and those intrauterine changes (polyp, submucosus myoma, adhesion), that were diagnosed by other imagining methods that cause infertility complaints. The aim of our present review is recommend the use of this method because it does not need any preparation and it is minimal invasive. The use of traditional method that needs longer preparation, observation, anesthesia and operating theatre, is only suggested in cases of proven pathology.
Asunto(s)
Histeroscopía , Infertilidad/etiología , Visita a Consultorio Médico , Dolor Pélvico/etiología , Enfermedades Uterinas/diagnóstico , Hemorragia Uterina/etiología , Femenino , Cuerpos Extraños/diagnóstico , Humanos , Hungría , Histeroscopía/métodos , Leiomioma/diagnóstico , Tiempo de Internación , Quirófanos , Pólipos/diagnóstico , Adherencias Tisulares/diagnóstico , Enfermedades Uterinas/complicaciones , Neoplasias Uterinas/diagnósticoRESUMEN
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.
Asunto(s)
Coagulación Sanguínea , Preeclampsia/sangre , Adulto , Plaquetas/patología , Agregación Eritrocitaria , Eritrocitos/patología , Femenino , Hemorreología , Humanos , Hipertensión/sangre , Leucocitos/patología , Placenta/metabolismo , Agregación Plaquetaria , Periodo Posparto , Preeclampsia/fisiopatología , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Proteinuria/sangreRESUMEN
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.
Asunto(s)
Niño Hospitalizado , Citocinas/inmunología , Felicidad , Sonrisa , Células TH1/inmunología , Células Th2/inmunología , Adolescente , Niño , Niño Hospitalizado/psicología , Niño Hospitalizado/estadística & datos numéricos , Preescolar , Citocinas/sangre , Femenino , Citometría de Flujo , Fundaciones , Hospitales de Enseñanza , Humanos , Hungría , Lactante , Interferón gamma/sangre , Interleucinas/sangre , Linfotoxina-alfa/sangre , Masculino , Factores de TiempoRESUMEN
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.
RESUMEN
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.
Asunto(s)
Papillomavirus Humano 11/genética , Papiloma/virología , Infecciones por Papillomavirus/virología , Polimorfismo Genético , Proteínas Virales/genética , Condiloma Acuminado/virología , Femenino , Humanos , Masculino , Infecciones del Sistema Respiratorio/virología , Índice de Severidad de la EnfermedadRESUMEN
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.
Asunto(s)
Neoplasias de Cabeza y Cuello , Inflamación , Anciano , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Humanos , Inflamación/diagnóstico por imagen , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].
RESUMEN
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.
RESUMEN
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.
Asunto(s)
Receptores de Activinas Tipo II/genética , Biomarcadores/análisis , Endoglina/genética , Tamizaje Masivo/métodos , Mutación , Vigilancia de la Población , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Humanos , Lactante , Masculino , Persona de Mediana Edad , Linaje , Pronóstico , Telangiectasia Hemorrágica Hereditaria/genéticaRESUMEN
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.
Asunto(s)
Fístula Arteriovenosa , Malformaciones Arteriovenosas , Venas Pulmonares , Telangiectasia Hemorrágica Hereditaria , Adulto , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/genética , Epistaxis , Humanos , Masculino , Telangiectasia Hemorrágica Hereditaria/diagnóstico por imagen , Telangiectasia Hemorrágica Hereditaria/genética , Adulto JovenRESUMEN
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.
Asunto(s)
Receptores de Activinas Tipo II/genética , Endoglina/genética , Mutación/genética , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/genética , Alelos , Endoglina/metabolismo , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Análisis de SecuenciaRESUMEN
BACKGROUND: Cidofovir is a cytosine nucleoside analogue antiviral drug given as an adjuvant therapy in recurrent respiratory papillomatosis (RRP). MATERIALS AND METHODS: Intralesional cidofovir therapy was given to a 14-year-old male patient. The papilloma severity score (PSS) of Derkay et al. was used for follow-up. Serial fresh-frozen biopsies were taken from the lesions in the larynx and soft palate prior to therapy and during its course. After human papillomavirus (HPV) typing and the determination of the genomic physical state, the HPV DNA copy number was estimated with real-time PCR. RESULTS: All the papillomas harboured HPV 11 DNA in episomal form. Prior to therapy, the HPV copy number fluctuated with time. In the initial treatment period with 2-week-intervals both the viral load and the PSS decreased and a transient complete remission was observed. Subsequently, when the injections were given at longer intervals, the viral load returned to the initial values or greated, fluctuations reappeared and the RRP recurred at a controlled rate. CONCLUSION: The initial treatment period was successful, as the viral load decreased, and long-term effects of cidofovir might account for the controlled disease as the injection intervals were prolonged.