Carpal tunnel syndrome in HIV-positive patients coinfected with HCV.

A wide range of rheumatic and peripheral nervous system disorders may develop in patients with HIV infection, leading to pain, sensory symptoms, and muscle weakness. Over the past three decades, the progress in management of HIV disease with anti-retroviral therapy (ART) has resulted in increased life expectancy for people living with HIV disease. With this new chronicity of the disease has a constellation of chronic musculoskeletal, orthopaedic and rheumatic manifestations has emerged, as potential complications of the disease itself and/or the results of ART treatment regimen and/or because of expected age-related symptoms/manifestations. The incidence of CTS in the general population is around 3.8% with clinical examination and, when electroneuromyography is used, it is 2.7%. In the HIV-positive population, the incidence is very close to that of the general population. The aim of this study was to evaluate the incidence of CTS and to identify factors influencing the development of CTS in HIV-infected patients attending our clinic. This syndrome has been associated with advanced HIV disease and the use of ART possibly due to an increased inflammatory state and the presence of concurrent HCV infection.

[What new fathers know, think and do: a survey about fathering's attitudes, beliefs and behaviors in a sample of 570 men just after the birth of their newborn]. / Cosa sanno, cosa pensano, cosa fanno i neo-papà: indagine su attitudini, conoscenze e comportamenti di 570 uomini rispetto al proprio ruolo paterno a poche ore dalla nascita del loro bambino.

AIM: The aim of this paper was to know and analyze information, attitudes and behaviors related with transformations occurring in men when they become fathers. METHODS: A self-administered questionnaire has been given out to all men whose newborns were born in the Hospitals located into Borgosesia, Ivrea, Novara, Verbania and Vercelli (Piedmont region in north west of the Italy) in the last quarter of 2006. The questionnaire was created ad hoc and filled out on the day of discharge; results underwent statistical analyses through SPSS system. RESULTS: For the duration of the research, out of 870 men who became fathers in the hospitals were involved in this study, 570 responded voluntarily to the self-administered questionnaire (65.6% of the total sample). They showed a lack of information about how to take care of their newborns and the emotional turmoil of women after delivery (58% think children are blind when they are born, 52% think it is better to breastfeed newborns at fixed times and 47% ignore that mothers can enter a depression state). Eighty-eight percent of respondents were in the delivery room to see their child's birth, 56% took a leave from job to stay with mother and child in the hospital and 58% of them report the intention to take an additional 2-3 days leave after coming home from the hospital; 27% had trouble sleeping during pregnancy and are afraid not to be good fathers for their child; 90% believe that their newborn will make them change life habits. Most of the new fathers had difficulties in sharing emotions and feelings related with their status of fathers-to-be with other men. Some of these results are significantly different in older fathers, fathers having their first child and fathers with a lesser level of education. CONCLUSION: During pregnancy and in the first months after their child is born, fathers-to-be and new fathers must be considered a potential target for educational interventions aiming at promoting their parenting information and reinforcing their positive attitudes and beliefs related with their fathering status.

Meningococcal vaccine evolution.

Neisseria meningitidis is a leading cause of bacterial sepsis and meningitis worldwide. Invasive meningococcal disease (IMD) can develop rapidly and is associated with high mortality and morbidity. Case fatality in developed countries averages 10% and higher rates are reported in less prosperous regions. The incidence of invasive disease due to Neisseria meningitidis is highly variable according to geographical area and serogroup distribution. The major disease burden is in developing countries; in industrialized countries meningococcal disease occurs sporadically and most IMD is caused by serogroups B and C. In the US serogroup Y is a major cause of meningococcal disease, accounting for more than one third of cases. Polysaccharide vaccines against serogroups A, C, W-135, and Y were developed but they were not so effective in protecting infants, who are at particularly high risk from invasive meningococcal infections. Conjugation of bacterial capsular polysaccharide to a carrier protein generates a T cell dependent immune response and immunological memory from infancy. After the introduction of serogroup C meningococcal conjugate vaccines since 1999, the incidence of serogroup C disease fell dramatically in countries in which they have been used. The first quadrivalent meningococcal conjugate vaccine (MenACWY-D) was licensed in the US in 2005. More recently, another tetravalent meningococcal conjugate vaccine (MenACWY-CRM, Menveo) was licensed in Europe and the US. Although polysaccharide and glycoconjugate vaccines have been developed for serogroups A, C, Y and W-135, currently there are no broadly effective vaccines available for the prevention of meningococcal B disease.

Late and unusual onset of congenital duodenal obstruction due to combination lesion.

Duodenal obstruction is one of the most common congenital anomalies. Both intrinsic (atresia, web and stenosis) or extrinsic lesions (malrotation, peritoneal bands, intestinal duplication, anterior portal vein and annular pancreas) may be involved. It usually presents within the first week of life with vomiting. We report an unusual congenital duodenal obstruction in a 8-month-old female with atypical symptoms due to a combination of intrinsic and extrinsic lesions.

Sulfate metabolism in Tuber borchii: characterization of a putative sulfate transporter and the homocysteine synthase genes.

The homocysteine synthase (tbhos) and putative sulfate transporter (tbsul1) genes have been characterized in order to understand the sulfate metabolism and regulation in the ectomycorrhizal fungus Tuber borchii. The analyses of tbsul1 and tbhos nucleotide and deduced amino acid sequences led to the identification of the typical domains shown in homologous proteins. Sulfate starvation condition upregulates both genes. The real-time PCR assay of tbsul1 revealed that gene expression was about threefold higher in mycelia grown under sulfate starvation for 2 days than in the mycelial control and in the same starvation condition, the sulfate uptake increased. Real-time PCR and enzymatic assays showed regulation of tbhos when sulfur sources were lacking, suggesting that a transcriptional regulation of this gene rather than a post-transcriptional one occurred. Furthermore, the tbsul1 and tbhos expression patterns were evaluated during the truffle life cycle, revealing an over-expression in the mature ascomata for both genes. In the ectomycorrhizal tissue, only tbhos was upregulated suggesting its substantial role in T. borchii cysteine synthesis. The regulation of tbsul1 and tbhos occurs primarily at the transcriptional level both during vegetative and fruiting phases and these genes could be directly involved in VOCs production.

Normal thickness and appearance of the prevertebral soft tissues on multidetector CT.

BACKGROUND AND PURPOSE: Analysis of the prevertebral soft tissue (PVST) is helpful in detecting osseous and ligamentous injuries of the cervical spine. Because the standard of care has shifted from radiographs to multidetector CT (MDCT), a re-examination of the PVST on MDCT images is needed to establish normal values for thickness appropriate for this imaging technique. MATERIALS AND METHODS: Thickness of the PVST was measured in 192 patients undergoing screening cervical spine MDCT with multiplanar reconstructions as part of a trauma protocol. Patients included in the study were not intubated, had an immobilized cervical spine, had normal findings on cervical spine CT, and did not have a diagnosis of osseous or soft-tissue cervical injury. Exclusion criteria included patients with a congenital or acquired (nondegenerative) abnormality of the cervical spine or PVST. RESULTS: The upper limits of normal for the thickness of the PVST were 8.5 mm at C1, 6 mm at C2, 7 mm at C3, 18 mm at C6, and 18 mm at C7. The upper limit of normal was not determined for C4 and C5 levels due to variable position of the esophagus and larynx. The smallest variability and calculated SDs were found at C2 and C3. CONCLUSIONS: The thickness of the PVST is important in the detection of underlying injuries to the cervical spine. We propose the obtained values as the upper limits of normal for PVST thickness on MDCT images in the adult population.

Molecular characterisation of a Tuber borchii Smt3 gene.

Tbsmt3 gene from the ectomychorrizal fungus Tuber borchii was identified and sequenced. The Tbsmt3 gene encodes for a protein sharing significant amino acid homology with the yeast SMT3, a ubiquitin-like protein that is post-translationally attached to several proteins involved in many cellular processes. The comparison between the Tbsmt3 genomic and cDNA sequences established that the encoding sequence is interrupted by an intron of 312 bp. Southern blot analysis revealed only one copy of Tbsmt3 gene in the T. borchii genome. Tbsmt3 is expressed in all phases of T. borchii life cycle: mycelium, ectomycorrhiza and ascoma. However, the Tbsmt3 mRNA decreased during fruit body maturation.

The isoprenoid pathway in the ectomycorrhizal fungus Tuber borchii Vittad.: cloning and characterisation of the tbhmgr, tbfpps and tbsqs genes.

The isoprenoid pathway of the ectomycorrhizal fungus Tuber borchii Vittad is investigated to better understand the molecular mechanisms at work, in particular during the maturation of the complex ascomata (the so-called "truffles"). Three T. borchii genes coding for the most important regulatory enzymes of the isoprenoid biosynthesis, 3-hydroxy-3-methylglutaryl-CoA reductase, farnesyl-diphosphate synthase (FPPS) and squalene synthase (SQS), were cloned and characterised. The analyses of their nucleotide and deduced amino acid sequences led us to identify the typical domains shown in homologous proteins. By using a quantitative real-time PCR the expression pattern of the three genes was analysed in the vegetative phase and during the complex ascoma maturation process, revealing an over-expression in the mature ascomata. The enzymatic activity of the T. borchii 3-hydroxy-3-methylglutaril-CoA reductase (HMGR) was investigated with a HPLC method, confirming that the significant isoprenoid biosynthesis in ripe ascomata proceeds not only via a transcriptional activation, but also via an enzyme activity control. These findings imply that isoprenoids play a fundamental role in Tuber ascomata, particularly in the last phases of their maturation, when they could be involved in antifungal or/and antimicrobial processes and contribute to the famous flavour of the truffle ascomata.

Ghrelin, motilin, insulin concentration in healthy infants in the first months of life: relation to fasting time and anthropometry.

AIMS: This study aimed to investigate: (i) the relation between fasting time and serum ghrelin, motilin and insulin concentrations and (ii) the correlations between these hormones and anthropometrical parameters of infants in the first 18 months of life. PATIENT AND METHODS: A cross-sectional study on 62 term infants was performed. Blood samples for hormonal assay were obtained at least 1 h after feeding. Weight, length and head circumference were recorded. Plasma ghrelin, motilin and insulin concentrations were determined by radioimmunoassay. RESULTS: Ghrelin and motilin had a significant direct correlation with fasting time (r = 0.447; P < 0.001 and r = 0.36; P = 0.004, respectively). We observed a negative influence of insulin on ghrelin levels (beta = -0.32; P = 0.036). Plasma ghrelin levels correlated significantly with age (r = 0.45, P < 0.001), weight (r = 0.31, P = 0.013), head circumference (r = 0.35, P = 0.006) and length (r = 0.39, P = 0.001). A significant correlation emerged between motilin and age (r = 0.45, P < 0.001), weight (r = 0.43, P = 0.001), head circumference (r = 0.47, P < 0.001) and length (r = 0.48, P < 0.001). CONCLUSIONS: Fasting influence on serum ghrelin concentration confirms the role of this hormone as a physiological meal initiator also in infancy. The correlation between ghrelin, anthropometrical parameters and age supports the hypothesis that this hormone could exert an important influence on growth in the first months of life. Considering motilin, age and weight might play a role in determining its secretion; motilin could be considered one of the numerous factors involved in long-term regulation of energy balance.

Cardiovascular abnormalities in special conditions of advanced cirrhosis. The circulatory adaptative changes to specific therapeutic procedures for the management of refractory ascites.

Advanced liver disease is characterized by decreased arterial blood pressure and peripheral vascular resistances, increased cardiac output and heart rate in the setting of a hyperdynamic circulatory pattern favoured by total blood volume expansion, circulatory overload and overactivity of the endogenous vasoactive systems. Reduced heart responses to stressful conditions such as changes in loading conditions of the heart in presence of further deterioration of liver function such as refractory ascites, hepatorenal syndrome, spontaneous bacterial peritonitis and bleeding esophageal varices have been recently identified and the knowledge of the cirrhotic cardiomyopathy syndrome has gained the dignity of a new clinical entity. Facing the availability of therapeutic interventions (paracentesis, transjugular intrahepatic portosystemic shunt, peritoneovenous shunt, orthotopic liver transplantation) currently employed to manage the life-threatening complications of the most advanced phases of cirrhotic disease, the knowledge of their impact on cardiovascular function is of paramount relevance.

[Diastolic dysfunction in liver cirrhosis]. / Disfunción diastólica en la cirrosis hepática.

The presence of a hyperdynamic circulation in cirrhotic liver is currently a well established concept. The first studies of cardiac function in patients with cirrhosis suggested the existence of an alcoholic cardiomyopathy. More recently, altered left ventricular response to physiological and/or pharmacological stimuli in patients with post-viral liver cirrhosis has been established, and clinically insignificant diastolic cardiac function has also been observed. Neurohumoral hyperactivity and hyperdynamic circulation, which are associated with chronic exposure to the cardiodepressant substances present in advanced liver disease, play a decisive role in the genesis of this process. The lack of relaxation of the left ventricle and alteration in the pattern of transmitral flow, both of which are characteristics of this clinical entity, are easily detected by echocardiography. The growing evidence of diastolic dysfunction in liver cirrhosis, particularly in decompensated cirrhosis, suggests the clinical importance of the problem, thus introducing the concept of "cirrhotic cardiomyopathy". Greater insight into this phenomenon could help to decrease cardiovascular risk, especially during maneuvers commonly used in the treatment of the complications of liver cirrhosis, such as paracentesis, transjugular intrahepatic portosystemic shunt stent implantation, and liver transplantation.

Time-course of diastolic dysfunction in different stages of chronic HCV related liver diseases.

AIM: A hyperdynamic circulatory pattern in advanced liver disease is known since a long time. The first studies evaluating cardiac function in cirrhosis were performed in patients with alcoholic liver disease and thus this condition was attributed to the toxic effects of ethanol. A reduced performance of the left ventricle after physical and pharmacological strains along with an altered diastolic function has been demonstrated also in postviral cirrhosis. Many factors are involved in advanced cirrhosis whereas little is known in the earlier stages of disease. METHODS: To this aim we have investigated patients with different stages of hepatitis C virus (HCV)-related liver disease to detect the time-course of diastolic dysfunction. An impaired relaxation and increased thickness of left ventricular walls along with an altered pattern of transmitral flow can be easily detected by means of echocardiography. RESULTS: In chronic hepatitis diastolic function is preserved but increased thickness of left ventricle parietal walls can be detected in patients with fibrosis on liver biopsy. The typical pattern of diastolic dysfunction is observed in Child A cirrhotic patients and in Child C ascitic patients but thickness of parietal walls is more relevant in the former group. Chronic aldosterone blockade could exert favourable effects in heart remodeling suggesting a potential role of these drugs in cirrhotic cardiomyopathy. CONCLUSIONS: The presence of increased thickness of left ventricle parietal walls in chronic hepatitis C in the precirrhotic stage point to a putative role of HCV in this heart structural abnormality that can become a co-factor in the more advanced stages of cirrhosis when portal hypertension and its deleterious effects on systemic hemodynamics, cardiac function and structure become manifest.

A putative mitochondrial fission gene from the ectomycorrhizal ascomycete Tuber borchii Vittad.: cloning, characterisation and phylogeny.

Mitochondrial binary division is a complex process occurring in multiple steps, mediated by several proteins. In Saccharomyces cerevisiae, a mitochondrial membrane protein, Fis1p, is required for the proper assembly of the mitochondrial division apparatus. In this study, we report the cloning, characterisation and phylogenetic analysis of Tbfis1, a gene from the ectomycorrhizal ascomycetous truffle Tuber borchii, encoding for an orthologue of S. cerevisiae Fis1p. The Tbfis1 coding region consists of a 468-nucleotide open reading frame interrupted by four introns, which encodes for a polypeptide of 155 amino acids, having a predicted transmembrane domain structure typical of the Fis1p Family. Southern blot analysis revealed that Tbfis1 is a single-copy gene in the T. borchii genome. Tbfis1 is highly expressed during the first stages of T. borchii fruit body ripening, while its expression decreases during T. borchii mycelium ageing. Also, Virtual Northern blot analysis revealed Tbfis1 expression in the symbiotic phase of the fungus life cycle. Phylogenetic analysis allowed the identification of Tbfis1 orthologues in filamentous fungi, yeasts, plants, worms, flies and mammals, indicating that the function of the protein coded by this gene has been conserved during evolution.

Venous air embolism in homicidal blunt impact head trauma. Case reports.

From 1992 through 1997, there were 41 deaths by homicidal blunt impact head trauma in Hillsborough County, Florida. Twenty-one cases were excluded from the study because of putrefaction or survival beyond the emergency department doors, leaving 20 cases for the study. One of the 15 nonputrefied victims found dead at the scene and 1 of the 5 victims pronounced dead in the emergency department had definite venous air embolism. Victim 1 was found dead, bludgeoned with a concrete block, and had open vault and comminuted basilar skull fractures. The dura forming the right sigmoid sinus at the jugular foramen was lacerated. A preautopsy chest radiograph and examination under water documented gas in the pulmonary artery and right ventricle. Victim 2 was bludgeoned with a steel stake and was pronounced dead on arrival in the emergency department. He had open comminuted vault fractures, a transverse basilar skull fracture, and lacerations of the brain. Direct examination and preautopsy chest radiography revealed air in the right side of the heart. A third victim, with basilar fractures, had a small gas bubble in the pulmonary artery not detected by the case pathologist. A fourth victim, with a basilar skull fracture, had an unusual radiographic finding that was thought to be air in the posteromedial aspect of the lower lobe of the left lung but could not be excluded as an air embolus. Optimal postmortem documentation of venous air embolism includes the demonstration of the embolus and the site of air ingress. This study demonstrates that venous air embolism occurs in some victims of homicidal bludgeoning and suggests that when significant, it is easily demonstrated in the absence of putrefactive gas formation. The presence of venous air embolism can serve as evidence that a victim was alive and breathing at the time of the infliction of head wounds. In the belief that venous air embolism might be underdiagnosed in many medical examiner offices, the authors have sought to bring attention to the entity by publishing their experience with it in cases of bludgeoning.

Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice.

SNF5/INI1 is a component of the ATP-dependent chromatin remodeling enzyme family SWI/SNF. Germ line mutations of INI1 have been identified in children with brain and renal rhabdoid tumors, indicating that INI1 is a tumor suppressor. Here we report that disruption of Ini1 expression in mice results in early embryonic lethality. Ini1-null embryos die between 3.5 and 5.5 days postcoitum, and Ini1-null blastocysts fail to hatch, form the trophectoderm, or expand the inner cell mass when cultured in vitro. Furthermore, we report that approximately 15% of Ini1-heterozygous mice present with tumors, mostly undifferentiated or poorly differentiated sarcomas. Tumor formation is associated with a loss of heterozygocity at the Ini1 locus, characterizing Ini1 as a tumor suppressor in mice. Thus, Ini1 is essential for embryo viability and for repression of oncogenesis in the adult organism.

Morphological and molecular characterisation of Pulvinula constellatio ectomycorrhizae.

The ascomycete Pulvinula constellatio was found to form competing ectomycorrhizal relationships with plants that had been inoculated with Tuber spp. and other edible ectomycorrhizal fungi. In order to be able to distinguish P. constellatio mycorrhizae from those of the Tuber spp., we determined the morphological and bio-molecular characteristics of P. constellatio. The complete sequence of the ITS regions was determined, in order to select specific primers. The ITS region was also studied using restriction fragment length polymorphism analyses with several restriction enzymes that allowed an unambiguous identification of the species.

Multiplex PCR for the identification of white Tuber species.

Species-specific primers selected from the internal transcribed spacer region sequence were used to set up a multiplex polymerase chain reaction (PCR) able to simultaneously identify the white truffle species Tuber magnatum, Tuber borchii, Tuber maculatum and Tuber puberulum. Furthermore, a primer specific for the competitive fungus Sphaerosporella brunnea was designed and added to the multiplex PCR set, allowing the detection of the Tuber species and the contaminant fungus in a one-step reaction.

Mammalian SWI-SNF complexes contribute to activation of the hsp70 gene.

ATP-dependent chromatin-remodeling complexes are conserved among all eukaryotes and function by altering nucleosome structure to allow cellular regulatory factors access to the DNA. Mammalian SWI-SNF complexes contain either of two highly conserved ATPase subunits: BRG1 or BRM. To identify cellular genes that require mammalian SWI-SNF complexes for the activation of gene expression, we have generated cell lines that inducibly express mutant forms of the BRG1 or BRM ATPases that are unable to bind and hydrolyze ATP. The mutant subunits physically associate with at least two endogenous members of mammalian SWI-SNF complexes, suggesting that nonfunctional, dominant negative complexes may be formed. We determined that expression of the mutant BRG1 or BRM proteins impaired the ability of cells to activate the endogenous stress response gene hsp70 in response to arsenite, a metabolic inhibitor, or cadmium, a heavy metal. Activation of hsp70 by heat stress, however, was unaffected. Activation of the heme oxygenase 1 promoter by arsenite or cadmium and activation of the cadmium-inducible metallothionein promoter also were unaffected by the expression of mutant SWI-SNF components. Analysis of a subset of constitutively expressed genes revealed no or minimal effects on transcript levels. We propose that the requirement for mammalian SWI-SNF complexes in gene activation events will be specific to individual genes and signaling pathways.

A new pair of primers designed for amplification of the ITS region in Tuber species.

The alignment of the 28S gene of several species of Pezizales allowed to select two pairs of primers able to amplify the internal transcribed spacer region of ribosomal DNA in mycorrhizal fungi, such as truffles. The higher yield of the amplification product demonstrates a better annealing of the new primers to the rDNA, as compared to the universal primers internal transcribed spacer 1 and internal transcribed spacer 4. Therefore, the new primers can be used as an easier and more sensitive tool for the identification of truffle species in any stage of their life cycle, including the mycorrhizal phase.

The prenatal diagnosis of cloacal exstrophy.

PURPOSE: We assess and clarify diagnostic features for making the prenatal diagnosis of cloacal exstrophy. MATERIALS AND METHODS: We evaluated 9 patients born with cloacal exstrophy at our institutions (2 prospectively and 7 retrospectively) for diagnostic features on prenatal ultrasound studies. We also thoroughly reviewed the literature on 13 previous prenatally diagnosed cloacal exstrophy cases. Diagnostic criteria were assessed by combining the findings in our patients and those in previous reports. RESULTS: Of the 22 patients with prenatal ultrasound studies and cloacal exstrophy whom we analyzed 1 of our 9 and 2 in the literature had a cloacal membrane that persisted at 22 weeks of gestation. Major ultrasound criteria for diagnosing cloacal exstrophy prenatally are nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), omphalocele and lumbosacral anomalies. Seven less frequent or minor criteria include lower extremity defects, renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus and 1 umbilical artery. CONCLUSIONS: We propose major and minor criteria to assist in the prenatal diagnosis of cloacal exstrophy. Despite these major and minor criteria the certainty of establishing a prenatal diagnosis remains challenging. Persistence of the cloacal membrane beyond the first trimester in 1 patient was an exception to the classic concept of cloacal exstrophy embryogenesis. An accurate prenatal diagnosis requires validation of these criteria by further correlation of prenatal and postnatal observations.