Asynchronous Bilateral Ovarian Torsion: Three Cases, Three Lessons.

BACKGROUND: Ovarian torsion (OT) is a serious condition, and delay in surgical intervention may result in loss of the ovary. Children and adolescents who have suffered from ovarian torsion may be at risk for asynchronous torsion of the contralateral ovary. STUDY OBJECTIVE: Three cases of asynchronous bilateral ovarian torsion were reported to analyse clinical history of three patients, to review the current literature, and to draw a conclusion for future treatment. DESIGN: Case reports and review of the literature. RESULT: When a prepubertal girl presents with an ovarian torsion, several considerations have to be taken in account in order to preserve her future fertility; in particular, the pediatric surgeon/gynecologist has to preserve as much as possible the twisted ovary in addition to considering the fate of the contralateral ovary. SUMMARY AND CONCLUSIONS: Pelvic pain in a young girl has always raised the clinical suspect of an ovarian torsion; the possibility of asynchronous bilateral ovarian torsion is rare, but it is described in the literature and has catastrophic consequences; this condition has to be known and treated in the proper way by pediatric surgeons as well as by gynecologists in order to maximize the future fertility of the young patients.

Molecular analysis based on mtLSU-rRNA and DHPS sequences of Pneumocystis jirovecii from immunocompromised and immunocompetent patients in Italy.

Pneumocystis jirovecii is an opportunistic fungus predominantly reported in immunocompromised individuals, who develop severe interstitial pneumonia (PcP). However, it is known that asymptomatic or mild pulmonary infections, defined as colonization, are widely observed in the general adult population. So far, genetic and epidemiological data of P. jirovecii infections in Italy are rather scarce and limited to defined geographical regions, mainly regarding isolates from HIV-infected patients. The aim of this study was to evaluate the polymorphisms at the mtLSU-rRNA and the DHPS loci by the screening and genotyping of a cohort of patients from two major hospitals in Rome (Italy). The study included 263 patients divided into two groups, all enrolled consecutively from January 2006 to December 2010: (i) 38 immunocompromised subjects including 25 HIV-infected; (ii) 225 immunocompetent patients. Sixty-seven out of 263 patients (25.5%) were found positive after PCR amplification of the mtLSU-rRNA gene. Overall, genotyping at mtLSU-rRNA locus revealed that the genotype 2 was the most frequent. Sequences of the DHPS gene were obtained from 21 patients, 9 from immunocompromised patients (6 from HIV infected individuals), 12 from immunocompetent ones. Considering the most common DHPS mutations usually detected at amino acid positions 55 and 57 and potentially related to drug resistance, all samples analyzed showed the wild-type signatures. These are the first data in Italy on prevalence and genotypes of P. jirovecii regarding colonized immunocompetent adults. Further multicenter analyses on P. jirovecii infection will be necessary to better define the specific epidemiology of the disease in the Italian populations.

Acanthamoeba T4 and T15 genotypes associated with keratitis infections in Italy.

Thus far there is little data available concerning Acanthamoeba associated amoebic keratitis (AK) from Italy. In order to understand the incidence of Acanthamoeba in patients with ocular infections and to characterize the isolates at the molecular level, ocular specimens and contact lenses or lens case solutions from 140 patients were analysed by culture and by an 18S rRNA (Rns) gene-based PCR method. Nineteen (13.6%) patients showed Acanthamoeba culture positive samples. Eleven out of the 14 genetically characterized isolates were assigned to the T4 genotype. Three isolates, two of them from patients with keratitis responding to specific anti-Acanthamoeba therapy, were identified as belonging to the T15 genotype. This finding represents the first association between the T15 genotype and human amoebic keratitis. PCR amplification of the 18S ribosomal DNA proved to be a sensitive method, potentially able to detect Acanthamoeba without the need of long culture incubation, and thus considerably useful for clinical applications.

Giardia cysts and Cryptosporidium oocysts in membrane-filtered municipal wastewater used for irrigation.

A wastewater tertiary treatment system based on membrane ultrafiltration and fed with secondary-treated municipal wastewater was evaluated for its Giardia cyst and Cryptosporidium oocyst removal efficiency. Giardia duodenalis (assemblages A and B) and Cryptosporidium parvum were identified in feed water but were found in filtered water only during occasional failure of the filtration system.

Prevalence and genotyping of human isolates of Giardia duodenalis from Albania.

Microscopical and PCR-based techniques were performed in order to investigate the prevalence of infection and the genotypes of Giardia duodenalis from 125 stool samples collected from children living in the urban and the rural areas of Tirana (Albania) and hospitalized with acute gastroenteritis. 7 out of 125 samples resulted positive for Giardia at the microscopic examination (5.6%). In 50 selected samples including the 7 samples positive for Giardia by microscopy, 3 and 15 additional positive samples were detected by immunofluorescence and PCR, respectively. Seasonality appeared as an important parameter to be evaluated in order to better understand the prevalence of infection. Sequence analysis revealed both human Assemblage A and B. This result represents the first data on G. duodenalis genotypes in Albania.

Evaluación no invasiva del status volémico. Confrontación entre indicadores radiográficos y volumétricos / Not invasive evaluation of the status volémico. Confrontation between warning radiográficos and volumetric

La finalidad de nuestro estudio ha sido la de evaluar la existencia de posibles correlaciones entre los principales indicadores volumétricos de carga previa y de función cardiaca, obtenida mediante el sistema PiCCO® (Pulsion Medical Systems, Munich, Alemania), con todos los datos derivados del análisis sistemático de la radiografía de tórax en proyección antero posterior, así como el pedúnculo vascular (VPW) y el índice cardiotorácico (RCT). Materiales y Métodos: Hemos incluido 15 pacientes y analizado conjuntamente 79 radiografías de pacientes electivos. Todos fueron sometidos a monitorización hemodinámica mediante PiCCO y al estudio de los parámetros radiográficos obtenidos (VPW, RCT). El análisis: cálculo de la media y desviación estándar; un análisis de la correlación para las siguientes parejas de parámetros: volumen de sangre intratorácica (ITBVI)-RCT, ITBVI-VPW, agua extravascular (EVLWI )-RCT, EVLWI-VPW . Resultados. Las parejas de los valores estudiados han evidenciado una correlación linear con R igual a 0.54 entre EVLWI-RCT. Discusión. Aunque es un estudio preliminar, los hallazgos más significativos se ven en las variaciones de RCT, que presentan una correspondencia con el edema intersticial antes de que aparezca un incremento crítico de la rata de líquido alveolar. En nuestra experiencia no hemos evidenciado una fuerte correlación entre VPW y los normales indicadores volumétricos de precarga. De acuerdo con los datos en literatura y también en la experiencia pediátrica, estos instrumentos presentan límites que aún no consienten sustituir completamente a la correcta cuantificación de la rata de agua extravascular, en respuesta al incremento volémico. Palabras Claves: Monitorización Hemodinámica, Monitor de PiCCO, Volemia, pedúnculo vascular, índice cardiotorácico, Volumen de sangre intratorácica, Volumen de agua extravascular intrapulmonar, Índice de función cardiaca...

Cardiopulmonary performances in young children and adolescents born with large abdominal wall defects.

BACKGROUND/PURPOSE: As long as the survival rate of patients with abdominal wall defects (AWD) increases, information about long-term follow-up is becoming necessary. Even though quality of life in these patients, in absence of associated anomalies, appears to be unaffected, respiratory impairment soon after birth has been documented; therefore, participation in sports rarely is addressed. METHODS: Eighteen patients, ranging in age from 7 to 18 years, operated on at birth for large abdominal wall defects (> 4 cm for gastroschisis; >6 cm for omphalocele) were asked to come for a stress test on a treadmill, with measurements of time of exercise (TE), maximal oxygen consumption (VO2 max) and continuous recording of vital parameters. Respiratory function also was assessed by Forced Vital Capacity (FVC). RESULTS: Ergometric data were compared with those of a normal pediatric population. All patients were able to perform the stress test with no cardiovascular abnormalities detected at rest or on exertion. Maximum heart rate was reached after a significantly shorter TE, and VO2 max was significantly reduced when comparing normal subjects with AWD subjects and AWD subjects in sports with those sedentary. FVC was only slightly reduced in AWD patients without reaching statistical significance. CONCLUSIONS: These findings indicate that patients operated on for AWD at birth exhibit a normal cardiorespiratory function; decreased TE and VO2 max are likely to reflect a lack of physical activity with a lower degree of fitness. Therefore, no limitations to motor performances should exist for these patients. Well-being may be greatly improved by regular exercise.

Pancreatic cystosis in cystic fibrosis: case report.

We describe a 19-year-old cystic fibrosis patient, with pancreatic insufficiency since the age of 4 who presented at the age of 13 with postprandial abdominal pain. Ultrasonography and computed tomography showed several pancreatic cysts that progressively increased in diameter over 6 years. The lack of association with clinical and biochemical signs of acute pancreatitis is highlighted.

Alpha 4 beta 7 integrin expression is associated with the leukemic evolution of human and murine T-cell lymphoblastic lymphomas.

We have previously shown that the in vivo coordinated expression of individual alpha 4 and beta 7 integrin chains correlated with the leukemic potential displayed by cell lines derived from murine lymphoblastic T-cell lymphomas (T-LBLs) when transplanted subcutaneously into syngeneic AKR mice. In the present study, by using immunofluorescence and immunocytochemical analyses, we have confirmed that the in vivo up-regulation of the alpha 4 beta 7 heterodimeric complex is associated with the leukemic behavior of AKR T-LBLs. In addition, when compared with the parental, highly leukemic NQ22 cells, the variant cell line NQ22V exhibited a reduced leukemic potential that was invariably associated with a delayed alpha 4 beta 7 up-regulation in vivo Moreover, the leukemic cell line SJ-1, derived from a spontaneous T-LBL of the SJL strain, also displayed high levels of alpha 4 beta 7 expression with a pattern of tissue distribution similar to that of NQ22 cells from leukemic AKR animals. Of note, in most of the tissues involved by murine T-LBL dissemination, and particularly in liver, kidney, and lung, alpha 4 beta 7-positive leukemic cells were always located around strongly VCAM-1-positive vascular spaces. These findings are consistent with a possible role of alpha 4 beta 7/VCAM-1 interactions in the extravasation and, consequently, in the leukemic dissemination of murine T-LBL cells. Immunocytochemical analysis carried out in 11 human T-LBLs showed that pathological lymph nodes from all 7 cases with bone marrow infiltration at presentation carried alpha 4 beta 7-positive cells, whereas all 4 aleukemic T-LBLs were repeatedly alpha 4 beta 7 negative, also in metachronous lesions. These findings suggest that alpha 4 beta 7-positive human T-LBLs may represent a distinct clinicopathological entity. In addition, alpha 4 beta 7 expression was significantly more prevalent in younger patients (< 11 years; P = 0.02), further supporting such a hypothesis. Moreover, as in murine T-LBLs, the pattern of alpha 4 beta 7 positivity in involved lymph nodes was mainly focal, whereas nearly all neoplastic cells infiltrating bone marrow expressed this integrin, suggesting a possible role for alpha 4 beta 7 in the leukemic dissemination also of human T-LBLs.

p16/CDKN2 and CDK4 gene mutations in sporadic melanoma development and progression.

The p16/CDKN2(MTS1) gene encoding for the p16 inhibitor of cyclin D/CDK4 complexes is frequently mutated and deleted in a large fraction of melanoma cell lines, and p16 germline mutations have also been observed in familial melanomas. Moreover, a CDK4 gene mutation, responsible for a functional resistance of CDK4 kinase to p16 inhibitory activity, has been described to occur in some cases of familial melanoma. These data strongly support the idea that deregulation of the CDK4/cyclin D pathway, via CDKN2 or CDK4 mutations, is of biological significance in the development of melanoma. To shed light on the role of these alterations in the development and progression of sporadic melanoma, 12 primary melanomas and 9 corresponding metastases were analyzed for CDKN2 and CDK4 gene mutations. Of the 12 primary melanomas analyzed, 4 showed the presence of mutational inactivation of the p 16 protein and 2 carried silent mutations. No metastases showed the presence of CDKN2 mutations, indicating that mutations of this cyclin-dependent kinase inhibitor is not common in the progression of sporadic melanoma. On the other hand, the absence, in the metastases, of the CDKN2 mutation detected in the corresponding primary tumors suggests that 9p21 homozygous deletion may play a major role in the metastatic spreading of this type of tumor. None of the cases analyzed showed the presence of an Arg24Cys mutation, which functionally protects CDK4 from p16 inhibition. This indicates that CDK4 mutation plays a minor role in the development and progression of sporadic melanoma.

[Does B-mode ultrasound still have a role in the diagnosis of spermatic cord torsion? Findings in a pediatric series]. / L'ecografia nel modo B ha ancora un ruolo nella diagnosi della torsione del funicolo spermatico? Reperti nell'età pediatrica.

INTRODUCTION: Acute scrotum in the pediatric age is mainly related to surgical causes. Spermatic cord torsion and inguinoscrotal hernia must be ruled out first, because of the possible ischemic damage to gonadal tissue and therefore surgery is sometimes performed directly, thus representing also a diagnostic tool. Spermatic cord torsion is found in two age ranges, namely: the neonatal period, where it usually represents the evolution of an intrauterine process, and the peripubertal period, which is more frequent. An unquestionable and prompt diagnosis is particularly needed because of the extreme sensitivity of gonadal tissue to ischemia. In this particular field, color and power Doppler US, depicting gonadal flow, have greatly increased diagnostic imaging capabilities, which were previously limited to B-mode US. MATERIAL AND METHODS: We examined 19 peripubertal patients with the diagnosis of spermatic cord torsion made on the basis of B-mode US and then confirmed with color Doppler. RESULTS: We found two signs which can be considered highly suggestive of spermatic cord torsion: the spiral twist of spermatic vessels and the peculiar extent of reactive hydrocele, caused by the bell clapper anomaly of the vaginal sac. CONCLUSIONS: The above US patterns are very helpful to diagnose spermatic cord torsion.

Cranial ultrasonography in maple syrup urine disease.

We performed serial cranial ultrasonography in four newborns affected by maple syrup urine disease. Symmetric increase of echogenicity of periventricular white matter, basal ganglia (mainly pallidi), and thalami was detected in the acute stage. The degree of ultrasonography abnormalities paralleled the clinical course of the disease.

Renal vein thrombosis and adrenal hemorrhage in the newborn: ultrasound evaluation of 4 cases.

Renal vein thrombosis and adrenal hemorrhage can both be encountered in the neonatal period and they may occur at the same time. Inferior vena cava thrombosis can complicate some cases. These diseases can be easily diagnosed by means of ultrasound. The authors present 4 cases in which newborns were affected by renal vein thrombosis associated with adrenal hemorrhage and caval thrombosis, evaluated by means of ultrasound. The echographic aspect of renal, adrenal and caval involvement is described.

[Renal echography in the diagnosis of malignant hemolymphopathies with early and prevalent kidney involvement]. / L'ecografia renale (US) nella diagnosi di emolinfopatie maligne con precoce e prevalente interessamento renale.

The Authors report their experience dealing with 21 patients affected by lymphoproliferative disorders with renal lesions. In 4 cases renal ultrasound allowed such a diagnosis, previously unsuspected.

[High-resolution computed tomography in the diagnosis of branchial otodysplasias. A report on 10 cases (15 ears)]. / La tomografia computerizzata ad alta risoluzione nella diagnostica delle otodisplasie branchiali. Rapporto su 10 casi (15 orecchi).

Computed Tomography (CT) is not yet widely employed in the evaluation of temporal bone diseases in pediatric patients. Our experience is reported in the study of branchial otodysplasias (10 cases, 15 ears) by means of a high-resolution program. Indications, advantages, limitations and risks of this technique are discussed. Some technical details are reported, such as number and type of scans, length of data acquisition, thickness and feed of slices, electronic image reconstruction, and radiation doses given to the lens. The method employed to immobilize younger patients is also described. CT findings in the single cases are summarized in the tables. The most significant images of 5 cases are also reproduced. A careful analysis of the cases in our series highlights the advantages provided by the use of high-resolution CT in the evaluation of the temporal bone in pediatric patients, especially as far as dysplasias are concerned.