Hematochezia and thrombocytopenia in a 3-day-old infant: Congenital adenoviral infection.

Neonatal adenovirus infection is infrequent, but in most cases the outcome of the infection is fatal. In this case report we describe the hospital course of a 3 day old newborn patient presenting with bloody stools and thrombocytopenia that remained clinically stable and had a benign course following Adenovirus 40/41 infection detected in stool. Neonatal adenovirus infection should be considered in the differential diagnosis of neonatal sepsis and pneumonia but also in patients that present with hematochezia, thrombocytopenia and/or other less specific signs and symptoms of viral illness.

[Diet and lifesyle of a cohort of primary school children]. / Abitudini alimentari e comportamentali di una coorte di bambini della scuola primaria.

INTRODUCTION: The obesity is the disease of the new millennium, because it affects about 300 million people in the world, and especially it has a high prevalence in children. Obesity is a significant risk factor for cardiovascular disease, diabetes mellitus type II, hypertension, problems of adaptation and relationship with other, lower self-esteem and depression. AIMS: The objective of our study is to identify children at risk of overweight/obesity in order to primary prevention. We have organized meetings with children, families and school's members where we discussed the results of our investigation about the importance of healthy diet and lifestyle. PATIENTS-METHODS: The study was carried out on 545 children (282F, 263M), age 6.-10 years, of two primary schools in Catanzaro, from 2008 to 2010. The valuation parameters were: gender, age, weight, height, blood pressure and waist circumference. To children were also administered a questionnaire about dietary habits and lifestyle. STATISTICAL ANALYSIS: Fisher's test. RESULTS: We had that 62% of children was normal weight, 27% overweight, 11% obese. A particularly relevant datum is that the percentage of overweight-obese boys of 8 and 9 years old was higher (56%) than that of normal weight. We found cases of hypertension only in obese children. 98% of obese, 80% of overweight and 24% of normal weight children had a high waist circumference. We did not find differences in food quality among normal weight and overweight/obese children. Instead, we found significant differences in behavior between children: 90% of obese, 64% of overweight and 53% of normal weight children passed more than 2 hours in the afternoon watching television, playing computer and video games. 70% of normal weight, 82% of overweight and 95% of obese children practiced physical activity. DISCUSSION/CONCLUSION: Our study shows a alarming fact about the increase of the obesity in children. In particular the most important problem is that this condition could predispose to cardio-metabolic, endocrine, respiratory, musculoskeletal and psychological consequence. So it is important that everybody who lives with children, especially parents and school's members, educates children to have healthy lifestyles. These attentions may slow the worryng epidemic of obesity.

[Evaluation of the varus-valgus knee in a group of calabrian children]. / Valutazione del varismo-valgismo del ginocchio in un gruppo di bambini calabresi.

INTRODUCTION: In the early years of life, the angular deviation of knee causes anxiety in parents and alert to paediatricians. The problem is often an expression of physiological development of the lower limbs and correction occurs spontaneously. A small number of children has a true pathology, which can lead to functional problems, modification of the knee's axis and muscular-skeletal disorders. We analyzed the prevalence of pathological forms of varus-valgus knee and their association with lower limb dysmetria and scoliotic attitude. MATERIALS AND METHODS: We evaluated radiographies of the lower limbs of 60 calabrian children; we analyzed the mechanical axis of knee and articular spacing angles. We evaluated the X-ray of the spine with study of Cobb's angle and the gradient of the femoral head. RESULTS: 61.6% of children had a deflection angle of the knee: 6.7% physiological varus and 28.3% physiological valgus, 8.3% pathological varus and 18.3% pathological valgus. Mechanical axis deviation was: +15.6 degrees with articular spacing angle of about +2.4 degrees in pathological varus and +1.95 degrees with articular spacing angle of about -2.09 degrees in pathological valgus. 15% of children had pathological deviation and femoral head dysmetria (7.7 mm). 10% of children had association between pathological valgus/varus knee, dysmetria and scoliotic attitude ( 8.3% sacral-lumbar scoliotic attitude with Cobb's angle <20 degrees ). CONCLUSIONS: Without alarm we must pay attention to varus/valgus knee, because probably it will be a physiological deviation. In the pathological condition, it is important to consider the association with the limbs dysmetria that can lead to irreversible scoliotic postural deviation, if ignored for a long time. Unlikely early diagnosis and a subsequent correction of these defects could assurance a good development of skeletal structure.

Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.

CONTEXT: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000- 4000 newborns. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland, all conditions indicated as "thyroid dysgenesis" (TD). A higher prevalence of congenital heart diseases has been documented in children with CH compared to the general population. This association suggests a possible pathogenic role of genes involved in both heart and thyroid development. Among these, it can be included Isl1, a transcription factor containing a LIM homeodomain that is expressed in both thyroid and heart during morphogenesis. OBJECTIVE: In the present study, we investigate the role of ISL1 in the pathogenesis of TD. SETTINGS AND PATIENTS: By single stranded conformational polymorphism, we screened for mutations the entire ISL1 coding sequence in 96 patients with TD and in 96 normal controls. RESULTS: No mutations have been found in patients and controls. CONCLUSION: Our data indicate that, despite the relevant role of ISL1 in thyroid and heart morphogenesis, mutations in its coding region are not associated with TD in our group of patients.

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000-4,000 newborns. Except in rare cases due to hypothalamic or pituitary defects, CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. When thyroid hormone therapy is not initiated within the first two months of life, CH can cause severe neurological, mental and motor damage. In 80-85% of cases, CH is associated with and presumably is a consequence of thyroid dysgenesis (TD). In these cases, the thyroid gland can be absent (agenesis, 35-40%), ectopically located (30-45%) and/or severely reduced in size (hypoplasia, 5%). Familial cases of TD are rare, even though ectopic or absent thyroid has been occasionally observed in siblings. The pathogenesis of TD is still largely unknown. Although a genetic component has been suggested, mutations in the gene encoding the receptor for the thyroid-stimulating hormone (TSHR) have been identified in only two cases of TD with hypoplasia. We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD. All three point mutations are located in the paired domain of PAX8 and result in severe reduction of the DNA-binding activity of this transcription factor. These genetic alterations implicate PAX8 in the pathogenesis of TD and in normal thyroid development.

Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.

Permanent congenital hypothyroidism (CH) has an incidence of 1/3000-4000 newborns and is among the most frequent cause of mental retardation and neurological alterations in children. In 80% to 85% of cases CH is associated with thyroid dysgenesis. A group of 61 patients with CH (22 with agenesis, 18 with ectopy, 1 with hypoplasia, and 20 cases with CH without thyroid enlargement but not further characterized) and 30 normal subjects were examined for the presence of mutations in the gene encoding the thyroid transcription factor 1 (TTF-1). The coding-region of the TTF-1 gene was analyzed in all cases by the single stranded conformational polymorphism (SSCP) and no mutations were detected. Direct sequencing also carried out in patients with thyroid agenesis confirmed the absence of mutations or polymorphisms in the TTF-1 gene. The absence of mutations in the TTF-1 gene in our samples indicates that the mutations in the TTF-1 gene are not a frequent cause of CH.

[Diabetes, hypothyroidism and celiac disease in Down's syndrome. A case report]. / Diabete, ipotiroidismo e celiachia nella sindrome di Down. Descrizione di un caso clinico.

It is well known that Down's syndrome patients frequently suffer from immune system diseases leading to the production of autoantibodies and the onset of correlated pathologies. These disorders become increasingly frequent as the patients grow older and the onset of one autoimmune disease often predisposes the development of others. Autoimmune thyroiditis is the most frequent disorder and appears to affect 39% of adult patients. Over the past years a number of reports have been published regarding the coexistence of various autoimmune diseases in DS patients, but little is still known about the relationship between these pathologies and celiac disease. In order to contribute to knowledge regarding the prevalence of this association, the authors report a case of a DS patient who developed diabetes mellitus, hypothyroidism and celiac disease at different times. This case provides further confirmation of the association between Down's syndrome and autoimmune pathologies. The authors feel that follow-up programmes for DS patients should include an evaluation of thyroid function and antithyroid antibodies given that the onset of glandular hypofunction may be very subtle. Furthermore, they should also include tests to assay glycemia, anti-pancreatic insula and anti-insulin antibodies for diabetes and AGA and EMA for celiac disease.

[Nailfold capillaroscopy in the study of microcirculation in childhood]. / La capillaroscopia periungueale nello studio del microcircolo in età pediatrica.

The nailfold capillaroscopy allows to study the microcirculation: for its simple and rapid execution it can be used also in children. We examined the nailfold capillaroscopy features in childhood and valued the maturation of microcirculation in connection to age and presented some pathologic patterns. We studied nailfold capillaroscopy patterns in sixty-six children without chronic cutaneous diseases. Our results showed that development of microcirculation during childhood is incomplete. In connection to age we observed the capillaries are arranged as arches in children younger than six months, there are disposed as saddles between 12 and 24 months and they became similar to those of the adult at about 10-11 years. We observed immature capillaries in one child with hypothyroidism and one's delay growth. The cutaneous hemorrhages were rarely found in children who bit the in nails. The capillaroscopy is helpful to value the maturation of the capillaries from the birth to the adolescence. Moreover we would like to underline how our children took part to this exam almost like as if it were a game.

Chromosomal instability in multiple endocrine neoplasia type 1. Cytogenetic evaluation with DEB test.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant condition with high penetrance and variable expressivity, in which tumors or hyperplasia occur in two or more endocrine organs. Some authors have investigated chromosomal instability in MEN 1 and MEN 2; the results are controversial. Chromosome analyses were performed on lymphocytes from seven patients with MEN 1, four healthy first-degree relatives (three of whom were children), six phenotypically normal volunteers, and three patients with Fanconi's anemia. To evaluate chromosomal instability we analyzed phytohemagglutinin-stimulated lymphocyte cultures with and without diepoxibutane. We observed an increase in the frequency of spontaneous chromosomal alterations in four patients. After the DEB test we found an increase in chromatid breakages, gaps, and exchange figures. These findings support the inclusion of the MEN 1 syndrome among the disorders with "chromosomal instability."

Establishment and characterization of a persistent infection of MDBK cells with herpes simplex virus.

A persistent, dynamic-state infection of a variant of herpes simplex virus type 1 strain MP [HSV-1 (MP)] in MDBK cells was established without supportive measures and maintained for over three years by routine passaging of the cells at 7-9 day intervals. The infection was characterized by a cyclic pattern of monolayer damage and reconstitution, correlated with virus production, which was most evident when the interval between subcultures was intentionally prolonged and the cells were left undisturbed. Occasional periods of cell crisis, with increased virus replication and extensive cytopathology, occurred. Passaging of the cells at higher density avoided eventual loss of the culture during the most severe crises. Presence of specific antibodies did not alter the course of infection. Interferon was constantly found during periods of cell crisis; it appeared on the second day after subculture, reached a maximum in correspondance of the first peak of cytopathology, and disappeared well before the onset of the second wave of cytopathology. Addition of exogenous interferon cured the cells of infection. Defective interfering particles could not be found. Virus isolated during persistence differed from parental virus regarding plaque morphology, temperature sensitivity of growth, and electrophoretic pattern of infected cells glycoproteins. A discussion on the possible mechanisms of persistence is provided.

[Substances with antiviral activity. XIX. Amidinohydrazones of formylesters and formylthioesters with aromatic N-heterocyclic substrates]. / Richerche su sostanze ad attività antivirale. Nota XIX--Amidinoidrazoni di formilesteri e formiltioesteri consubstrati N-eterociclici aromatici.

Some formylthioester and formylester amidinohydrazones with aromatic N-heterocyclic moieties, were synthesized and screened in vitro against the MP mutant of herpes simplex virus type 1 [HSV-1 (MP)] and parainfluenza type 3 virus, HA-1/CR-8 strain. The amidinohydrazone of 1-phenyl-4-formyl-3-(ethylthio)carbonylpyrrole (I) was the most active compound.

[Research on substances with antiviral activity. XVIII. Bis-amidinohydrazones of N-heterocyclic aromatic dialdehydes]. / Richerche su sostanze ad attività antivirale. Nota XVIII - bis-amidinoidrazoni di dialdeidi aromatiche N-eterocicliche.

Some bis-amidinohydrazones of N-heterocyclic aromatic dialdehydes were synthesised and tested in vitro against the MP mutant of the herpes simplex virus type 1 [HSV - I (MP)]. Of the compounds tested, only those with and indole substrate showed some measure of biological activity.

[Substances with antiviral activity. XX. Thiosemicarbazones of 1-substituted 3-formyl-2-ethoxycarbonyl(carboxy)indoles]. / Ricerche su sostanze ad attività antivirale. Nota XX- Tiosemicarbazoni di 3-formil-2-etossicarbonil(carbossi)indoli 1-sostituiti.

A series of 3-formyl-2-ethoxycarbonyl(carboxy)indole thiosemicarbazones 1-substituted were synthesized and evaluated for in vitro antiviral activity against vaccinia virus strain IHD. The thiosemicarbazone of 1-(m-chlorobenzoyl)-3-formyl-2-ethoxycarbonylindole [(II g); Table II] was the most active compound. Some structure activity relationships are discussed.

[Infection by BK virus, a human papovavirus, in immunosuppressed children and in children with normal immunological defenses (author's transl)]. / Infezione da virus BK, un papovavirus ad habitat umano, in bambini immunodepressi e in bambini con normali difese immunologiche.

Human infection by BK virus (BKV), a human papovavirus isolated from the urine of a transplanted patient, occurs early in life and is very widespread. The clinical features of the primary infection are unknown. After the primary infection, BKV remains latent in the host tissues. Immunosuppression of the host induces the activation of the latent virus; BKV has been isolated only from immunosuppressed patients so far. In our study the incidence of BKV infection in immunosuppressed children and in children with normal immunological defenses was investigated both by antibody and virus research, the cultural research of the virus being performed in the urine and other specimens, such as nasal-pharyngeal swabs and cerebrospinal fluids. Our results show that the incidence of the primary infection in immunosuppressed children is comparable to the incidence in children with normal immunological defenses. Two antigenically identical viruses, which showed only partial correlation with BKV, were isolated from the urine of two immunosuppressed children. These two viruses were considered as a same antigenic variant of the BKV prototype. Of all the subjects examined, only 9 immunosuppressed children had antibodies to the newly isolated viruses.

[Research on substances with antiviral activity. X. 1-substituted-2-(methylamino) naphtho/2,1-b/furan hydrochlorides]. / Ricerche su sostanze ad attività antivirale. Nota X - Cloridrati di 2-(amminometil)nafto [2,1-b] furani-1-sostituiti.

Some 2-(methylamino)naphtho [2,1-b] furans hydrochlorides 1-substituted were synthetized and investigates for antiviral activity in vitro against Herpes simplex virus type I (VHS-I) and parainfluenza virus type 3 HA-I/CR-8 stock.

Multiple chromosomal associations and paracentromeric region instability in a case of acute leukemia.

A case of acute myelomonocytic leukema is described, which was characterized cytogenetically by the presence of centromeric elongations, somatic crossovers, selective endoreduplication figures, and multiple chromosomal clusters. The demonstration of these phenomena by selective staining techniques for the chromosome bands (Q, C, G and S) and the nucleolar areas (acridine-orange, amido black B 10) raises some biological aspects involved in the proliferation of leukemic cells, such as nucleolar persistance during the metaphase and the non-separation of chromatids in the clusters during the anaphase. These structural abnormalities may represent the background for the explanation of the appearance of subclones in neoplastic disorders.