Value of T2-weighted magnetic resonance imaging in the assessment of wall inflammation and fibrosis in Crohn's disease.

This review focuses specifically on the diagnostic value of T2-weighted imaging in the assessment of Crohn's disease (CD) inflammation. In general, T2-weighted imaging has been less extensively investigated than T1-weighted gadolinium-enhanced imaging, even if it may offer similar information on disease activity. Furthermore, T2-weighted imaging allows CD characterization, which is crucial in the management of the disease when differentiating intestinal edema from fibrosis. Technical aspects, morphological findings and signs of active intestinal inflammation and fibrosis detectable on T2-weighted images will be reviewed and shown. Correlation between T2-weighted imaging findings, clinical activity indexes and histopathology features will be discussed. Since T2-weighted imaging is essential in the evaluation of CD activity, it should always complement with T1-weighted imaging, although it could also be used alone in the assessment of CD.

Familial Ohtahara syndrome due to a novel ARX gene mutation.

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West syndrome phenotype and epileptic encephalopathy. In both children, we have found a previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) resulting in the substitution of a leucine with a glutamine in the aminoacid sequence. The two mothers and the maternal grandmother carry the same mutation which segregates with the disease phenotype in the family. This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.

Histological findings of a surgically excised myopic choroidal neovascular membrane after photodynamic therapy. A case report.

BACKGROUND: The authors describe a myopic choroidal neovascular membrane excised 4 months after photodynamic therapy (PDT). METHODS: A 68-year-old woman with classic choroidal neovascularization (CNV) due to pathologic myopia underwent PDT with verteporfin in the left eye. Four months after treatment a full-thickness macular hole was diagnosed in the same eye and the patient underwent vitrectomy with submacular membranectomy. The subfoveal membrane was studied by light microscopy and immunohistochemical techniques. RESULTS: Light microscopy showed a thin fibrovascular membrane covered by residual retinal pigment epithelium. The membrane contained homogeneous matrix with small collagen bundles, fibroblasts and small blood vessels. The distribution of blood vessels was nonuniform: extravasated red blood cells, macrophages and other inflammatory elements were not present in the fibrous matrix. Endothelial cells were highlighted by CD34 immunostaining and did not show any significant alteration. There was no evidence of inflammatory cells or thrombosis inside vascular lumina. CONCLUSIONS: Histologic examination of the neovascular membrane showed features similar to those of surgically excised myopic CNV without PDT treatment. Our findings suggest that PDT-induced occlusion is temporary. Fluorescein leakage from CNV after a single PDT treatment can be considered as an sign of blood vessel regrowth or recanalization indicating that multiple treatments are necessary.

Width of the fetal lateral ventricular atrium between 10 and 12 mm: a simple variation of the norm?

OBJECTIVES: The prognosis of borderline forms of anomalies that can be detected by ultrasound is one of the most challenging issues in prenatal diagnosis. The aim of this study was to determine the prognosis for fetuses presenting with isolated mild ventriculomegaly (MVM). METHODS: Fetuses in which the width of the lateral ventricular atria was 10-12 mm and which had no other detectable chromosomal or morphological anomalies were followed by monthly ultrasound examinations until delivery. For the cases identified up to December 1997, postnatal information was gathered retrospectively through interviews. Children born from January 1998 onwards were included in a protocol involving planned neuropsychiatric visits at 12 and 18 months of age in which the Griffith scale was used to assess neurodevelopment. RESULTS: Between September 1992 and January 2001, 60 fetuses with isolated MVM were identified. Ventricular dilatation diminished in 18 cases (and became normal in nine of these) and stabilized in 42 cases. Information was obtained on 38 children born up to December 1997 and their neurodevelopment was found to be completely normal. The 22 children born from January 1998 onwards showed normal development at 12 and 18 months of age. CONCLUSIONS: When MVM is observed on prenatal ultrasound examination it can be very difficult to offer parents appropriate counseling. It is important to exclude aneuploidy or morphological abnormalities but even then there will be anxieties about long-term neurological outcome. Our data, which show normal neurodevelopment between 18 months and 10 years after birth in cases of MVM (10-12 mm), should provide a basis for reassuring counseling.

[Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin]. / L'ipocondroplasia: importanza dei reperti radiologici nella diagnosi differenziale con basse stature di altra origine.

Hypochondroplasia is a genetic skeletal dysplasia characterized by disproportionate short stature, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate macrocephaly. The condition may occasionally mimic short stature of familial, endocrine or metabolic origin. In the absence of clinical and laboratory diagnostic clues, radiological findings are of the utmost value in the diagnosis of this skeletal dysplasia and also in the differential diagnosis with other short-limbed dwarfisms. The genetic, clinical and radiological aspects of hypochondroplasia are briefly recalled, and the importance of some minor and frequently overlooked findings is stressed.

[Complications of lung transplantation: clinical aspects and radiological findings]. / Complicanze del trapianto polmonare. Aspetti clinici e reperti radiologici.

In spite of improvements in the surgical technique of lung transplantation, early and late complications after surgery are not uncommon. The authors review the clinical aspects and radiological findings of these complications, including reperfusion edema, acute rejection, infections, airway complications, vascular complications, pleural complications, chronic rejection, omentopexy complications, transbronchial biopsy complications, post-transplantation lymphoproliferative disease and recurrence of the primitive disease. Early detection of these complications is important for early appropriate treatment, resulting in the decrease in morbidity and mortality of the transplanted patients.

Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family.

We present a patient (3 months old) with partial and generalized seizures who has a family history of seizures with a onset during the first 12 months of life. We diagnosed benign infantile familial convulsions (BIFC) and we did not introduce any antiepileptic therapy. We present clinical data of her family where 18 out of 35 members were affected; to our knowledge this is the largest family with BIFC. BIFC is transmitted as an autosomal dominant trait; recently it has been reported that the gene for BIFC maps to the long arm of chromosome 19. We conducted linkage analysis in our family providing significant exclusion of linkage between the BIFC locus phenotype and chromosome 19 markers, suggesting that a second locus is involved in this family.

Prospective study of first-line vigabatrin monotherapy in childhood partial epilepsies.

This was a prospective open comparative pilot study to assess the efficacy and tolerability of first-line vigabatrin monotherapy in childhood partial epilepsies. Two groups of patients were recruited over the same period. The vigabatrin monotherapy group comprised 40 patients (18 male, 22 female; mean age at last visit 7.5 years); the comparative carbamazepine monotherapy group comprised 40 consecutive clinic patients (22 male, 18 female; mean age at last visit 7.8 years). Seizures disappeared in 82% of vigabatrin patients and in all carbamazepine patients with idiopathic partial epilepsy, and in 50% of vigabatrin patients and 55% of carbamazepine patients with symptomatic partial epilepsy. Interictal EEG abnormalities decreased in vigabatrin patients more than in carbamazepine patients (P < 0.05). Tolerability was good in vigabatrin patients, but four out of 37 showed mild irritability by the end of the trial. Persistent sedation was observed in eight of the 40 patients receiving carbamazepine. No patient had drug therapy discontinued because of side-effects. During vigabatrin long-term monotherapy, efficacy and good clinical tolerability were maintained. These results suggest that vigabatrin may be an alternative first-line treatment for childhood partial epilepsies. Further blinded comparative randomized trials are needed.

Desmopressin and imipramine in the management of nocturnal enuresis: a multicentre study.

The efficacy and safety of desmopressin (Minirin/DDAVP) treatment compared with imipramine were investigated in a multicentre, open, cross-over design in 57 patients, aged 6-15 years, affected by nocturnal enuresis to establish the best therapeutic approach to this condition. After a two-weeks observation and control period, patients were randomised to one of two groups: intranasal administration of desmopressin, 30 micrograms/day for three weeks, followed by imipramine, 0.9 mg/kg for a further three weeks, or imipramine 0.9 mg/kg for three weeks, followed by desmopressin, 30 micrograms/day for a further three weeks. Following treatment, all patients were observed for a further two weeks. Administration of either treatment protocol resulted in a statistically significant decline in the number of enuretic episodes per week compared to the control. The greater antidiuretic effect observed in the group receiving imipramine followed by desmopressin suggests the two compounds have different profiles. Also, when the treatment period was compared with the follow-up, the antidiuretic effect had a longer duration in the group initially given imipramine. No further improvement was seen when desmopressin was administered first, with a mild worsening of the effect sometimes occurring, suggesting a different carry-over effect between the two treatments. This suggests that desmopressin offers a better approach to the management of nocturnal enuresis.

[EEG anomalies in the prodromic phase of Rasmussen's syndrome. Report of two cases]. / Anomalies EEG dans la phase prémonitoire du syndrome de Rasmussen. A propos de deux observations.

Electroencephalographic (EEG) recordings were studied at disease onset in two subjects presenting with Rasmussen's syndrome. Particular attention was paid to abnormalities detected during the prodromic phase before clinical outcome suggested the existence of chronic encephalitis. EEG recordings showed focal, polymorphic abnormalities associated with slow biphasic complexes (SBC). These complexes that are composed of two slow waves with opposite polarity, a 150- to 250-mV peak-to-peak amplitude and a 500-ms duration have only been described in inflammatory syndromes of the central nervous system. Their occurrence at onset of Rasmussen's syndrome are discussed.

Absent end-diastolic velocity in umbilical artery: risk of neonatal morbidity and brain damage.

OBJECTIVE: We conducted a cohort study in growth-retarded fetuses to establish if absent or reverse end-diastolic flow in the umbilical artery was associated with increased perinatal mortality and morbidity and neurologic damage at long-term follow-up. STUDY DESIGN: Thirty-one fetuses with intrauterine growth retardation and absent or reverse end-diastolic flow in the umbilical artery (study group) and 40 growth-retarded fetuses with detectable diastolic flow in the umbilical artery, divided into two control groups, were followed up with serial nonstress tests, Doppler flow studies, and biophysical profiles. Twenty newborns from the study group survived the perinatal period and were observed for a mean of 18 months (range 12 to 24 months). Their neurologic outcomes were compared with those of 26 neonates from the two control groups. RESULTS: Study group fetuses had a higher incidence of abnormal karyotype (9.7% vs 0%) and corrected perinatal mortality (26% vs 6% and 4%) and a greater risk of permanent neurologic sequelae (35% vs 0% and 12%) compared with the fetuses from the two control groups. CONCLUSIONS: Growth-retarded fetuses with absent or reverse end-diastolic flow in the umbilical artery not only have an increased fetal and neonatal mortality but also a higher incidence of long-term permanent neurologic damage when compared with growth-retarded fetuses with diastolic flow in the umbilical circulation.

Overnight growth hormone secretion in short children: independence of the sleep pattern.

PURPOSE: to analyze the interrelationships between GH secretion and pattern of sleep. PATIENTS: 18 children (10 male, 8 female; mean age 9.1 yr, range 5.1-14.3 yr), with short stature (mean height standard deviation score (SDS) -2.52, range -3.86-(-)1.88; mean height velocity SDS -1.1, range -2.40-(-)0.08), including 9 children with genetic short stature and 9 with idiopathic short stature. METHODS: blood samples were taken every 15 min from 2000 h-0800 h, and GH profiles were analyzed by the PULSAR computerized peak identification algorithm; simultaneous sleep was analyzed by electroencephalogram recording. RESULTS: no significant correlation was noted between GH secretion parameters and any of the electroencephalogram parameters evaluated: stage 1 (S1) percent, stage 2 (S2) percent, slow-wave sleep (SWS) percent, rapid eye movement sleep percent, wakefulness (W) percent, and sleep efficiency (EFF); there was no significant difference in GH secretion between children with EFF less than 76% and those with EFF more than 76% (P > 0.5). Maximal GH peak coincided 9 times (50%) with SWS, 3 times (17%) with S2, 3 times with W, twice (11%) with S1, and once (6%) with rapid eye movement sleep. First GH peak coincided 12 times (67%) with W, 3 times with S2, twice with SWS, and once with S1. There was no significant difference comparing the percentage of sleep stages occurring in the 15 min of maximal GH increment, in the 15 min preceding it, and in those following it; there was no significant difference comparing the percentage of sleep stages occurring in the 15 min preceding the onset of a GH peak and in those following it. CONCLUSIONS: GH secretion in short children seems independent of the sleep stage and efficiency; in children it is possible that GH secretion relates with sleep per se and with neurohormonal changes occurring at nighttime rather than with a specific sleep stage or sleep stage sequence.

Cerebro-reno-digital syndrome in two sibs.

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.

Clinical serological correlations in the evaluation of Sjögren's syndrome.

Fifty-six subjects (46 females and 10 males) with signs of Sjögren's Syndrome (SS) have been evaluated for clinical and serological parameters. In 12 subjects such clinical signs were associated with a definite connective tissue disease (secondary SS): Rheumatoid Arthritis (2 cases), Systemic Lupus Erythematosus (4 cases), Progressive Systemic Sclerosis (4 cases), Essential Mixed Cryoglobulinemia (2 cases). All patients underwent a lip biopsy which was evaluated according to the Chisholm-Mason scale. Six out of 56 subjects (10.7%) had a normal salivary gland with few lymphocytes (class I); 5 (10%) had a scattered lymphoid infiltrate containing less than 1 focus/4 mm2 (class II); 36 (64.3%) had one focus/4 mm2 (class III) and, finally, 9 (16%) had more than 1 focus/4 mm2 (class IV). The great majority (91%) of the patients had some abnormalities at the ophthalmological examination (Schirmer test, Break up times, van Bijsterveld score): even those with a class I lip biopsy. Xerostomia was present in 69% of the patients, xerophthalmia in 78%, arthralgias in 78%, parotid swelling in 19%, Raynaud's phenomenon in 16%, recurrent abortion in 9 patients. The prevalence of autoantibodies in the group of primary SS was high: ANA 43.2%, anti-Ha 40%, anti-Ro 12%, anti-phospholipids 52.2%, rheumatoid factor (RF) 45.7%. A decrease of lysozyme concentration in tears and saliva has been demonstrated and a correlation between level of lysozyme and lip-biopsy has been observed.(ABSTRACT TRUNCATED AT 250 WORDS)

Class II MHC antigen expression on epithelial cells of salivary glands from patients with Sjögren's syndrome.

Class II MHC molecules are two-chain glycoproteins normally expressed only on the membrane of cells involved in the immune response. These molecules are restriction elements for helper T cells. Using indirect immunofluorescence on cryostat sections of biopsied salivary glands we have demonstrated epithelial expression of class II antigens in patients with Sjögren's syndrome. The HLA DR+ epithelial cells were seen in close proximity to lymphocyte infiltrates. The finding that class II molecules are also expressed in salivary glands without focal lymphocytic infiltrates suggests a "modulation" as opposed to "induction" of HLA DR antigens on epithelial cells in Sjögren's syndrome, the distinction being related to the enhancement of low levels of expressions vs. de novo synthesis.

The management of infancy and childhood intussusception in a department of general surgery.

The experience with 24 intussusceptions observed in a Department of General Surgery has been reviewed. The delay between onset of symptoms and hospitalization was less than 24 hours in 58% of cases, from 24 to 48 hours in 28%, and more than 48 hours in 14% of children. 23 patients were submitted to barium enema. Hydrostatic reduction was obtained in 19 cases. Laparotomy was performed in 13 patients after failure of hydrostatic reduction and in 5 emergency cases while only 4 underwent resection. The controversies about the management of intussusception are discussed, based on a review of literature (6,542 cases). A safe diagnostic and therapeutic approach to the disease is proposed.