Splenic abscesses as a first manifestation of Crohn's disease: a case report.

BACKGROUND: Splenic nodules are uncommon entities that occur rarely in the general population. Although an infectious etiology (primarily bacteria, followed by mycobacteria) is usually found, noninfectious diseases, including malignancies and autoimmune disorders, can also be involved. For instance, in course of inflammatory bowel diseases (IBDs), in particular Crohn's Disease, aseptic splenic abscesses have been reported in patients with a long history of illness, or in those unresponsive to medical treatments, while are only anecdotally reported in the early phase of the disease. Hence, we presented the case of aseptic splenic nodules as a first manifestation of Crohn's Disease. CASE PRESENTATION: A 21-year-old woman with a silent medical history was admitted to the Emergency Department of our hospital complaining of fever of 38-39 °C (mainly in the evening) for the past 10 days and left flank abdominal pain, accompanied by sweating and fatigue. An abdominal computed tomography showed multiple splenic nodules of unknown origin. Because of the absence of clinical improvement after several antibiotic therapiesand a positron emission tomography (PET) with hypercaptation strictly localized to spleen, she underwent splenectomy, in suspicion of lymphoma. For persistence of symptoms after splenectomy, she underwent many instrumental examination, including a colonoscopy with bowel and intestinal biopsies that poses diagnosis of Crohn's disease. A second PET confirmed this diagnosis showing this time also the gastrointestinal involvement. CONCLUSION: An unusual onset of Crohn's disease with multiple splenic nodules is reported. This case suggests that in light of splenic nodules of unknown etiology attention should be paid to all possible diagnoses of aseptic abscesses, including IBDs (primarily Crohn's Disease).

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18.

Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Re-treatment of patients with anti-HBe-positive chronic hepatitis B who relapsed after an initial course of lamivudine.

AIM: To evaluate the efficacy of a long-term course of lamivudine monotherapy in patients with anti-HBe-positive chronic hepatitis B who relapsed after the first course of either lamivudine/interferon (n = 16; Group 1) or lamivudine (n = 20; Group 2). METHODS: Biochemical and virological tests were performed every 3 months. At baseline and breakthrough, the region coding for the YMDD amino acid motif was sequenced. RESULTS: The length of re-treatment averaged 24 months. The virological response peaked at 6 months (94.4%), and declined to 66.7% and 50% at 12 and 24 months, respectively. The rates of breakthrough were 2.9%, 31.4% and 48.6% at 6, 12 and 24 months, respectively. By the second year, responders amounted to 62.5% and 40% in Groups 1 and 2, respectively (P = 0.10). The 18 responders at month 24 are still on therapy after 25-51 months of treatment: 14 still maintain a response, nine from Group 1 and five from Group 2. CONCLUSIONS: Re-treatment with lamivudine can control viral replication. This effect is maintained for the initial 12 months in two-thirds of patients, but afterwards the duration of response lessens due to the development of viral resistance.

Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.

In patients with lipodystrophies a post binding defect in insulin action has been described involving phosphorylation of the beta subunit of the insulin receptor, suggesting the presence of a genetically determined defect in insulin action; the receptor gene has been mapped to the distal short arm of chromosome 19 close to the break-point of a specific chromosome translocation frequently found in pre-B Acute Lymphoblastic Leukemia (ALL). We report on a 13 years old female patient with partial lipodystrophy, acanthosis nigricans and insulin resistance who developed a pre-B ALL. Since lipodystrophy and pre-B ALL are rare disorders, a possible causal relationship between the two diseases is suggested possibly mediated by a mutation in the insulin receptor gene.

Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?

We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.

[Evaluation of the efficacy and tolerability of protirelin. Results of a multicenter study in Italy]. / Valutazione dell'efficacia e tollerabilità della protirelina. Risultati di uno studio policentrico in Italia.

Controlled clinical trials demonstrated protireline tartrate (TRH-T) efficacy, with its analeptic, analgesic and arousing effects, in the treatment of neurological and functional impairment due to cerebrovascular accidents and head injuries. While the efficacy profile has been extensively studied, there isn't yet a completely satisfactory evaluation on TRH-T tolerability profile. We decided to perform, in Italy, a phase IV clinical trial on the efficacy-safety ratio of TRH-T, involving more than 170 centers spread in the whole country. The trial was an open study, with no control group, enrolling 2359 patients (M = 1405; F = 930; n.d. = 24), most aged between 50 and 80 years. About 52% of them had stroke sequelae, about 15% head injury, 11% a TIA and another 11% cerebral hemorrhage. The patients received TRH-T (4 mg/die) for a cycle of 14 days, by either intramuscular or intravenous routes (slow infusion). Drug efficacy was declared good in about 45% and excellent in about 18% of the patients with stroke. Two hundred twenty eight adverse events were found in 153 patients (M = 92; F = 61), namely with an incidence of 6.49%; they were more frequently detected in elderly patients and in those affected by cerebral hemorrhage or TIA. The most frequent adverse events concerned mucocutaneous, gastrointestinal, cardiovascular and central nervous systems; they were mostly considered light or moderate, and only one third of them required suspension of treatment. Drug-event causal relationship was judged, referring to the "Lasagna algorithm", as definite in 23.7% of the adverse events.(ABSTRACT TRUNCATED AT 250 WORDS)

The distribution of age at menarche in a random series of Turin girls followed longitudinally.

A longitudinal study on 508 girls chosen at random from the elementary schools of Turin showed that age at menarche had a Gaussian distribution. The mean age was 12.58 +/- 0.05 years. Peaks of incidence of menarche were observed in January and July-September. The correlation coefficient of mothers' (recollected) age at menarche with daughters' was 0.32.

Growth velocity monitoring of the efficacy of different therapeutic protocols in a group of thalassaemic children.

Since intensive chelating therapy for thalassaemic children was introduced, growth rates appear to have diminished. To investigate what factors were responsible we compared velocities of growth in length over a period of 1 year between groups distinguished by different strategies of treatment. Forty-two thalassaemic patients, 30 males aged 4-12 years, and 12 females, 4-10 years old, were assigned from their current treatment into subgroups based upon blood ferritin levels, daily dose of desferrioxamine and urinary zinc levels. CONCLUSION The results confirm that a reduction in desferrioxamine results in greater growth. If blood ferritin is low, the change effect may be greater. Secondly, any zinc deficiency should be treated. The changes in treatment convert a growth velocity of -2 to -3 SDS to a velocity of about -1 SDS.

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a condition characterized by variable combined immunodeficiency, developmental delay, facial anomalies and a variety of structural chromosomal rearrangements. Recently, aberrations at the molecular level have been described consisting of alterations in the methylation pattern of classical satellite DNA. To our knowledge 15 subjects have been described so far in the literature showing marked phenotypic variability. We report on two new patients with normal development and some peculiar clinical and immunological manifestations. All patients previously reported in the literature are reviewed. CONCLUSION. The identification of these two cases among our hypogammaglobulinaemic patients suggests that ICF syndrome is not a rare disorder and it should be always taken into account in immunodeficient patients with facial abnormalities.

The Williams syndrome: an Italian collaborative study.

Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.