Hipertensión pulmonar: uno entre un millón / Pulmonary hypertension: one in a million

Introducción. La hipertensión pulmonar en pediatríasuele presentarse con una clínica inespecífica que hace difícilsu sospecha diagnóstica, siendo hasta en el 30% de los casosde etiología multifactorial.Caso clínico. Presentamos el caso de una lactante de2 meses de edad que comienza con clínica inespecífica(vómitos, rechazo de tomas, irritabilidad), presentando unempeoramiento progresivo que termina en varias paradascardiorrespiratorias abortadas. En el estudio diagnósticoúnicamente se encuentra una hipertensión pulmonar grave que no responde a tratamiento vasodilatador agresivo.Además, muestra hiperecogenicidad periventricular condesarrollo de edema cerebral progresivo, que termina conla vida de la paciente. El estudio metabólico muestra elevación de glicina en líquidos biológicos; y el estudio genético confirma una variante patogénica en homocigosis en elgen NFU1 (NM_001002755.3:c.622G>T, p.Gly208Cys), por loque se diagnostica de síndrome de disfunción mitocondrialmúltiple tipo 1.Conclusiones. El síndrome de disfunción mitocondrialmúltiple tipo 1 es una enfermedad autosómica recesiva conuna prevalencia <1/1.000.000, que afecta al metabolismomitocondrial por alteración del gen NFU1. La clínica comienza en las primeras etapas de la vida por síntomas inespecíficos, neurológicos e hipertensión pulmonar, con un cursomortal a los pocos meses de edad. Destaca un aumento deglicina y lactato en líquidos biológicos; una leucoencefalopatía periventricular con degeneración quística, cavitacionesy/o necrosis. El diagnóstico de las enfermedades metabólicasprecisa de una alta sospecha clínica. El curso rápidamenteprogresivo y refractario al tratamiento de una hipertensiónpulmonar que asocia clínica encefalopática, debe hacernossospechar una alteración en el metabolismo mitocondrial. (AU)

Introduction. Pulmonary hypertension in children usually presents with non-specific symptoms that makes thesuspicion difficult, being up to 30% of cases of multifactorialetiology.Clinical case. We present the case of a 2-month-old infantwho began with nonspecific symptoms, presenting a progressive worsening that results in aborted cardiorespiratoryarrest. The diagnostic work-up only shows a severe pulmonary hypertension that does not respond to aggressivevasodilator therapy. In addition, the patient has periventricular hyperechogenicity with progressive cerebral edema,causing the patient’s death. The metabolic study shows elevation of glycine in biological fluids; and the genetic study confirmed a homozygous pathogenic variant in the NFU1gene (NM_001002755.3:c.622G>T, p.Gly208Cys), leading tothe diagnosis of type 1 multiple mitochondrial dysfunctionsyndrome.Conclusion. Multiple mitochondrial dysfunction syndrome type 1 is an autosomal recessive disease with a prevalence <1/1,000,000, which affects mitochondrial metabolismdue to alterations in the NFU1 gene. The clinic begins in theearly stages of life presenting with nonspecific symptoms,neurological symptoms and pulmonary hypertension; witha fatal course in all cases. An increase in glycine and lactate in biological fluids is characteristic; it is also typical tofind a periventricular leukoencephalopathy with chemicaldegeneration, cavitations and/or necrosis. The diagnosisof metabolic disorders requires a high clinical suspicion. Asevere pulmonary hypertension associated with encephalopathy should lead us to suspect an alteration in mitochondrial metabolism (AU)

WITHDRAWN: Neurotrophins and specific receptors in the oviduct tracts of Japanese quail (Coturnix coturnix japonica).

The Publisher regrets that this article is an accidental duplication of an article that has already been published in Ann. Anat., 210 (2017) 112 ­ 120>, http://dx.doi.org/10.1016/j.aanat.2016.04.034. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.

Neurotrophins and specific receptors in the oviduct tracts of Japanese quail (Coturnix coturnix japonica).

Neurotrophins (NGF, BDNF and NT-3) and their specific receptors (TrkA, TrkB and TrkC) were studied in the oviduct of egg laying quails. Neurotrophins (NTs) are mainly involved in the development and maintenance of neuronal populations in the central and peripheral nervous system, but also in reproductive system. In this survey, we first studied the morphological organization of the quail oviduct, distinguished in infundibulum, magnum, isthmus, uterus and vagina, and then we analyzed the expression and localization of NTs and Trks receptors in the whole tracts. By western blotting we detected that the investigated NTs and Trks receptors are expressed in all oviductal tracts. By immunohistochemistry we were able to define the distribution of NTs and Trks. Specifically, NGF, BDNF and NT3 were localized in lining and ductal epithelial cells, and NGF was also detected in secretory cells of tubular glands and in nervous fibers of vessel wall. TrkA and TrkB were present in the lining and ductal epithelium; TrkA and TrkC were present in nervous fibers of vessel wall in all oviductal tracts. Furthermore, we also observed NGF and BDNF co-localized with TrkA and TrkB in cells of the lining and ductal epithelium, suggesting an autocrine mechanism of action.

Nursing research priorities in internal medicine nursing practice: an Italian Delphi study.

INTRODUCTION: In order to develop an effective and accountable nursing practice is necessary to launch research projects through coordinated studies and one of the main strategies to achieve this goal is to define research priorities. METHODS: he aim of this study is define the nursing priority research in Internal Medicine and explore the possibility to define the nursing priority research in Internal Medicine. This is an observational study using a three-round Delphi method. RESULTS: Fifty-five nurses (77%) completed all three rounds. Two hundred eighty-four research priorities were recorded, organized in eighty areas. The technical - care and organized - management are the areas in which were identify more priorities. CONCLUSIONS: The top five priorities, identify as the most important, suggest the attention of Italian nurses in care of patients, management and in safe-care.

[Otomyiasis by Cochliomyia hominivorax in two children from the outskirts of Buenos Aires, Argentina]. / Otomiasis por Cochliomyia hominivorax en dos niños del conurbano bonaerense, Argentina.

Cochliomyia hominivorax causes 80% of human myiasis in Argentina. Nowadays, its geographic distribution covers tropical South America and an important region of Argentina. In the present report, two clinical cases of otomyiasis by C. hominivorax in pediatric patients assisted at the Hospital de Clinicas of Buenos Aires, Argentina are described. The relevance of the taxonomic identification lies in the fact that this species produces severe symptoms owing to the capacity of its larvae to drill the bones and cause the host's death.

[Tungiasis acquired in Chaco Province, Argentina]. / Tungiosis adquirida en la provincia del Chaco, Argentina.

A four-year old girl and her mother were assisted at the Hospital de Clínicas for 0.7 cm wide papules with a black central core and a white hyperkeratotic halo of fourteen days of development. The girl presented these lesions on the second and fourth toe of one of her feet, and her mother on the ankle. Among the known antecedents were a trip to Chaco Province and their habit of walking barefooted. After the papule incision, both antiseptic treatment and cleaning of the lesion, were performed. The exudate extracted from the wound was sent to the Parasitology laboratory for diagnosis. With low-power amplification (100 X), portions of an arthropod with numerous characteristic Tunga penetrans eggs were identified. The patients received antibiotic therapy and tetanus immunization. Tungiasis, which originated in America, is a cutaneous parasitosis caused by Tunga penetrans. In endemic areas, it is advisable to wear shoes in order to avoid the penetration of the flea into the skin. The presence of this flea should be suspected whenever hyperkeratotic papules with a black central core appear, mainly in the sub and periungual areas, soles, ankles and/or heels of the feet.

Management of totally implantable vascular access devices in patients with cystic fibrosis.

Cystic fibrosis (CF) is a genetic disease associated with recurrent lung infections, that represent a major cause of mortality and morbidity. Cystic fibrosis requires frequent antibiotic treatments, sometimes by mouth or via aerosol but often via the intravenous route. Totally implanted venous access devices (ports) allow an easy and safe vascular access for unlimited periods of time, and they can be used in CF to administer antibiotics and other i.v. infusions; if compared to external central venous catheters, ports are better tolerated, since they permit almost unlimited physical activity and do not interfere with patient's self-image. Though ports require a minimal level of care, they may be sometimes associated with relevant complications, which can be insertion-related (pneumothorax, arterial puncture, local hematoma), or management-related (infection, occlusion of the lumen, venous thrombosis). This article summarizes some recommendations on the management of ports in CF, considering the existing literature. Still, some issues remain unsolved and will need further research and studies.

[Investigation of Trichomonas vaginalis through different methodologies during pregnancy]. / Investigación de Trichomonas vaginalis durante el embarazo mediante diferentes metodologías.

The aim of this study was to conduct a survey regarding the prevalence of trichomoniasis in pregnant patients and to evaluate the utility of different diagnostic methods. Two hundred and twenty three vaginal swab specimens from pregnant women were prospectively examined. Trichomonas vaginalis was investigated by various microscopic examinations, solid culture medium and liquid culture medium. The sensitivity and specificity of microscopy were evaluated by considering both culture media as the "gold standards". The prevalence of T. vaginalis obtained by both culture media (liquid plus solid media) was 4.5% (10/223). The prevalence of T. vaginalis obtained by direct smear, May-Grunwald Giemsa staining, sodium acetate-acetic acid-formalin (SAF)/Methylene blue staining-fixing technique, solid medium and liquid medium was 1.3%, 1.8%, 1.8% and 4.5%, respectively. The sensitivity of the direct smear was 30 %, but for the May-Grunwald Giemsa staining and the SAF/Methylene blue staining-fixing technique was 40%. Considering the three microscopic examinations altogether, the sensitivity rose to 50% and the specificity was 100% for all of them. The solid medium detected only 50% of the positive cases; the liquid medium detected 100%. Due to the low sensitivity obtained with microscopy in asymptomatic pregnant patients, we recommend the use of the liquid medium during pregnancy, in order to provide an early treatment.

Investigación de Trichomonas vaginalis durante el embarazo mediante diferentes metodologías / Investigation of Trichomonas vaginalis through different methodologies during pregnancy

Los objetivos del trabajo fueron conocer la prevalencia de tricomonosis en pacientes embarazadas y evaluar la utilidad de diferentes metodologías para su diagnóstico. Se estudiaron prospectivamente 223 mujeres embarazadas. Trichomonas vaginalis se investigó utilizando distintos exámenes microscópicos, cultivo en medio sólido y medio líquido. Se evaluó la sensibilidad y especificidad de la microscopía considerando a los cultivos en ambos medios como método de referencia. La prevalencia del parásito obtenida por cultivo (medio líquido más medio sólido) fue de 4,5% (10/223) siendo la detección por examen en fresco, coloración de May-Grunwald Giemsa, fresco con solución acética formolada (SAF)/azul de metileno y por cultivo en medio sólido y líquido de 1,3%, 1,8%, 1,8% y 4,5% respectivamente. La sensibilidad del examen en fresco fue 30%, para el May-Grunwald Giemsa y el SAF/azul de metileno fue 40%. Utilizando conjuntamente los tres exámenes microscópicos, la sensibilidad se elevó al 50% y la especificidad fue 100% para todos los exámenes microscópicos. El cultivo en medio líquido detectó el 100% de los casos positivos , mientras que el medio sólido sólo el 50%. Por la baja sensibilidad de la microscopía para T. vaginalis, en embarazadas asintomáticas recomendamos la utilización del cultivo en medio líquido durante el embarazo, para instaurar un tratamiento precoz.

The aim of this study was to conduct a survey regarding the prevalence of trichomoniasis in pregnant patients and to evaluate the utility of different diagnostic methods. Two hundred and twenty three vaginal swab specimens from pregnant women were prospectively examined. Trichomonas vaginalis was investigated by various microscopic examinations, solid culture medium and liquid culture medium. The sensitivity and specificity of microscopy were evaluated by considering both culture media as the "gold standards". The prevalence of T. vaginalis obtained by both culture media (liquid plus solid media) was 4.5% (10/223). The prevalence of T. vaginalis obtained by direct smear, May-Grunwald Giemsa staining, sodium acetate-acetic acid-formalin (SAF)/Methylene blue staining-fixing technique, solid medium and liquid medium was 1.3%, 1.8%, 1.8% and 4.5%, respectively. The sensitivity of the direct smear was 30 %, but for the May- Grunwald Giemsa staining and the SAF/Methylene blue staining-fixing technique was 40%. Considering the three microscopic examinations altogether, the sensitivity rose to 50% and the specificity was 100% for all of them. The solid medium detected only 50% of the positive cases; the liquid medium detected 100%. Due to the low sensitivity obtained with microscopy in asymptomatic pregnant patients, we recommend the use of the liquid medium during pregnancy, in order to provide an early treatment.

[The scombroid syndrome, a potentially serious ichthyotoxicosis of uncertain pathogenesis: personal experience]. / Sindrome sgombroide, una ittiotossicosi a patogenesi incerta potenzialmente grave: esperienza personale.

The aim of this report is to point out the potential seriousness of the scombroid syndrome which, on the basis of our experience, can be characterized by extremely serious symptoms. We describe 12 cases of scombroid syndrome: two-thirds of the patients presented with rapid worsening of their clinical condition and hypotension severe enough to require use of plasma-expanders and hospitalization in an Internal Medicine Department. In the youngest patient, hypotension and symptoms were so marked that intravenous administration of epinephrine, and hospitalization in the Intensive Care Unit were required. Thus, in contrast to reports in the literature, the scombroid syndrome should be considered as a potentially serious ichthyotoxicosis. The pathogenetic role played by histamine, poorly absorbed by the intestine and rapidly metabolized by the liver, should be reevaluated. The potential onset of serious clinical symptoms warrants prolonged observation of the patient in an environment equipped to deal with the not infrequent emergencies that can arise, even in young and healthy subjects.

[Comparison of intestinal parasite infestation indexes among HIV positive and negative populations]. / Comparación de índices de infestaciones por enteroparásitos entre poblaciones HIV positivas y negativas.

This study was carried out on two groups of patients treated at the José de San Martín Clinical Hospital. One group was composed of 82 HIV-seropositive patients with no signs of diarrhea, and another one of 300 patients, not suspected of HIV infection, was considered as "control population". Stool samples were collected from each patient and examined for intestinal parasites. These determinations were carried out at the Department of Clinical Biochemistry, in the same Hospital. Three specimens were obtained from each patient and processed in an identical form. Concentration methods, a direct smear technique after centrifugation and the trichrome staining procedure were performed on each sample. The HIV-positive group was found to harbor a higher proportion of intestinal parasites. Outstanding differences between both groups in percentages of parasitoses were observed. Species found in a significantly higher percentage among HIV seropositive patients were: Entamoeba histolytica (26.5%), Iodamoeba bütschlii (16.9%), Dientamoeba fragilis (25.3%), Blastocystis hominis (51.8%), Cryptosporidium sp. (7.2%), and probably Isospora belli (1.2%). No significant differences in percentages of Giardia lamblia, Entamoeba coli, Chilomastix mesnili and helminths were observed between both groups. Within the HIV-positive group, a higher proportion of infestation due to E. histolytica and I. bütschlii was observed in homosexuals-bisexuals than in intravenous drug addicts or heterosexuals.