1p36 deletion syndrome: Review and mapping with further characterization of the phenotype,a new cohort of 86 patients

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.     

Mallory-Weiss syndrome. Outcome of 160 cases

The Mallory-Weiss (M-W) syndrome is responsible for about 7.5% of all bleedings of oesophageal origin. Emergency endoscopic treatment allows to obtain a rapid diagnosis as well as an effective treatment. Personal experience on 160 cases of M-W tears (14.2% of all oesophageal bleeding) is reported. The tears were classified in three groups: IA and IB (30 cases); IIA and IIB (48 cases); IIC and III (82 cases). In the first two groups a complete haemostasis was obtained in 73 out of 78 cases (93.6%) with a single session and in 5/78 cases with two sessions of sclerotherapy. The third group was treated with medical therapy. There was no procedure related mortality. An analysis of etiologic factors, anatomic conditions and pathogenetic correlations has highlighted the role of portal hypertension in cirrhotic patients in favouring the bleeding in some of these patients and the role of hiatal hernia and cardial incontinence in determining the site of the lesions.     

Primary carcinoma of the cystic duct: a case report and review of the literature

The Authors, after a short introduction concerning the primary carcinoma of the cystic duct and the exact definition according to Farrar's criteria, report a case occurred to their observation, the 35th case of international literature. In particular the importance of some hemato-clinical parameters and instrumental investigation (ERCP, angio-CT) to underlined in order to surgical indication. In the case here reported cholecystectomy uses informed with partial resection of the hepato-choledochus and excision of some periductal and pericholedochus lymph nodes. Finally, the Authors discuss about clinical data and diagnostic and therapeutic trends, on the case of their experience and literature review.     

T-lymphocyte immunointerferon receptors in patients with multiple sclerosis

Multiple sclerosis (MS) is a T-cell-mediated autoimmune demyelinating disease of the central nervous system (CNS), associated with an altered immunoregulation. Interferon (IFN)-, also known as immune IFN, is a cytokine with several effects on the immune system. Specific IFN- receptors have been found on human lymphocytes, as well as on other cell types (e.g. gliocytes), even in the CNS. The aim of the present study was to evaluate IFN- binding on peripheral blood T-lymphocytes from MS patients, compared with those from healthy subjects. Thirty-two patients were selected according to the classical criteria for definite MS; as controls, 21 healthy subjects were studied. We have found that T-lymphocytes from MS patients bear a significantly smaller amount of IFN- receptors than those from controls [B _max: 568, 18 vs 708, 14 (mean, SE) receptors/cell]. Such IFN- binding sites are of the same type in patients and healthy subjects [K _d: 1.0, 0.05 vs 0.9, 0.02 (mean, SE) nM]. These findings are discussed in terms of immunopathogenesis of MS, since it has been reported that activated T-lymphocytes have decreased amounts of IFN- receptors.     

A "bug-in-the-eye" can be better than a "bug-in-the-ear". A teleprompter technique for on-line therapy skills training

The only existing method of therapy supervision that provides on-line feedback to trainees is the "bug-in-the-ear," an auditory communication system. Although this system has several advantages over supervision strategies that use retrospective accounts, audio- and videotapes, and direct observation on sessions, it is disruptive to the trainee and must be limited to strategically timed three- or four-word communications. We describe and discuss advantages of the "bug-in-the-eye," an alternative to the bug-in-the-ear, which provides visual on-line feedback for therapist skill training.     

Altered NMDA glutamate receptor antagonist response in recovering ethanol-dependent patients.

Ethanol is an antagonist of the N-methyl-D-aspartate (NMDA) glutamate receptor. Ethanol dependence upregulates NMDA receptors and contributes to crosstolerance with selective NMDA receptor antagonists in animals. This study evaluated whether recovering ethanol-dependent patients show evidence of a reduced level of response to the effects of the NMDA receptor antagonist, ketamine. In this double-blind study, 34 recently detoxified alcohol-dependent patients and 26 healthy comparison subjects completed 3 test days involving a 40-min infusion of saline, ketamine 0.1 mg/kg, or ketamine 0.5 mg/kg in a randomized order. Recovering ethanol-dependent patients showed reduced perceptual alterations, dysphoric mood, and impairments in executive cognitive functions during ketamine infusion relative to the healthy comparison group. No attenuation of ketamine-induced amnestic effects, euphoria, or activation was observed. The alterations in NMDA receptor function observed in recovering ethanol-dependent patients may have important implications for ethanol tolerance, ethanol dependence, and the treatment of alcoholism.     

Computed tomography (CT) evaluation of breast cancer patients with osteolytic bone metastases undergoing palliative radiotherapy—a feasibility study

Twenty-five patients with osteolytic metastases had computed tomography (CT) scans before and 3 months after palliative radiotherapy. The median % density change following single 8 Gy, 20 Gy/5#, 30 Gy/10# were: 128 (range 98–255), 141 (79–342), and 145 (65–235), respectively. It is feasible to evaluate remineralization of osteolytic lesions with palliative radiotherapy.