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.

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.

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.

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.

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.

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.

Role of telethermography and arthrography in rheumatoid wrist.

After briefly reviewing some of the problems relating to an early identification of synovial pathology, the authors have pointed out the actual role of telethermography and arthrography, resulting from their diagnostic experience. The two techniques were applied to a group of 40 patients affected with rheumatoid arthritis and were found to be particularly helpful: (i) either providing quite early information (telethermography); or (ii) allowing an exact topographic definition of synovial and tendinous sheath involvement (opaque arthrography), or eventually (iii) supplying a manageable means to follow their development with.

Melorheostosis: presentation of a case followed up for 24 years.

The case of a woman affected by Melorheostosis of the left arm, who was followed for 24 years, is presented. After a brief review of the main clinico-radiological features and the most likely pathogenetic theory, the authors point out the slow but inexorable progression of the alterations and their localization, which is strictly limited to the dermatome supplied by a spinal nerve.

Postaxial acrofacial dysostosis or Miller syndrome. A case report.

A case of postaxial acrofacial dysostosis (Miller syndrome) is presented. This rare syndrome is essentially characterized by a Treacher-Collins-like facial appearance together with absence of the fifth digital ray of all limbs and variable forearm hypoplasia.

[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.

Does MURCS association represent an actual nonrandom complex of malformations?

The MURCS association was first suggested by Duncan in 1979 as a distinctive nonrandom association of congenital anomalies involving the Mullerian duct, the kidneys and the cervicothoracic spine. Two personal cases, highly resembling Duncan's description, are reported. In our opinion, they seem to support somehow the hypothesis that MURCS association should be considered as an autonomous pathological entity. The great phenotypical variability and the still unknown etiopathogenetic mechanism are particularly stressed.

Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia.

The main skeletal abnormalities in beta-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by beta-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.

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.

An unusual kind of muscular and skeletal involvement in a heroin addict. A case report.

After a brief review of the infectious complications that frequently occur in heroin users, the authors report a case of chronic osteomyelitis affecting the ulnar diaphysis bilaterally. Musculo-cutaneous dystrophic lesions were also present and resulted in forced flexion of the distal phalanges of fingers 2-5. The most likely pathogenetic development discussed.

Skeletal changes in preterm infants: personal experience.

The incidence of skeletal changes in preterm low-birth-weight infants is rising. This is probably related to today's higher survival rate of these babies. The late positivity of biochemical data and the lack of clinical prognostic signs justify the role of radiology in such pathology. Radiology, however, although useful in detecting rachitic changes, seems to be less sensitive to minimal osteoporotic modifications, for which densitometric studies should be preferred. The authors report their personal experience in 8 cases of skeletal pathology in preterm infants and suggest a radiological follow-up of the skeleton from the 5th to the 12th week of life, whenever a densitometric method is not available.

Ultrasound diagnosis and management of urethral stones.

The authors report three cases of urethral obstruction caused by stones. The diagnosis was made with ultrasound and the stones removed immediately by a transurethral catheter guided by ultrasound.

[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.

[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.

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.