A patient with autistic disorder and a 20/22 chromosomal translocation

The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45, XY, -22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q.11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A ^99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.     

Acquired C1-inhibitor deficiency associated with a lupus-like anticoagulant activity

A patient with two attacks of glottis angioedema in a 15-day period without any apparent stimulus was studied. The complement profile of the patient revealed depletion of C4, C2, C1 inhibitor (C1INH) and C1q, with normal values of C3. Patient's offspring had a normal complement profile. Cytofluorographic analysis of the peripheral blood cells showed a marked increase of B cells. In the clotting study, a circulating lupus-like anticoagulant activity (LLA) was detected with a noticeable decrease of prothrombin time. Hepatosplenomegaly was confirmed by abdominal echography and CAT. From the liver biopsy it was concluded to be a lymphoproliferative process compatible with germinal center lymphoma. It is suggested that the neoplasm is probably the origin of the LLA and the cause of C1 activation, producing the biochemical defect of C1INH and the clinical symptoms of angioedema.     

Control of neck nodes in squamous cell carcinoma of the head and neck by radiotherapy: prognostic factors.

313 patients with cervical metastases from a squamous carcinoma of the head and neck treated with radiotherapy, were studied by means of a multivariant analysis in order to determine the prognostic factors for cure. These were: lymph node response to irradiation (P = 0.0000), size of node (P = 0.0000), radiotherapy dose (P = 0.0037), condition of the primary (controlled vs non-controlled) (P = 0.0015), recurrent cervical metastases post-surgery (P = 0.0286).     

Leiomyosarcoma of nose & paranasal sinuses

Three cases of leiomyosarcoma affecting the nose and paranasal sinuses are reported. The relevant medical literature is reviewed and a few conclusions drawn. Local recurrences are very common and the overall prognosis of these tumours remains poor in spite of radical surgery. Radiotherapy and chemotherapy have little role to play in the management of these tumours.     

Albrights syndrome—report of a case and review of literature

Albright’s Syndrome is a rare disease which occurs sporadically. Its aetiology is not known. It is extremely rare in males. To the best of our knowledge this Syndrome is not associated with any congenital visceral anomaly. We present a case of Albright’s Syndrome in a boy who also showed a congenital ectopic kidney. The literature of this syndrome is reviewed with a view to update the current knowledge.     

Unfavorable neuroblastoma prognostic factor NLRR2 inhibits cell differentiation by transcriptional induction through JNK pathway

The novel human gene family encoding neuronal leucine rich repeat (NLRR) proteins were identified as prognostic markers from our previous screening of primary neuroblastoma (NB) cDNA libraries. Of the NLRR gene family members, NLRR1 and NLRR3 are associated with the regulation of cellular proliferation and differentiation, respectively. However, the functional regulation and clinical significance of NLRR2 in NB remain unclear. Here, we evaluated the differential expression of NLRR2, where high expressions of NLRR2 were significantly associated with a poor prognosis of NB (P = 0.0009), in 78 NBs. Enforced expression of NLRR2 in NB cells enhanced cellular proliferation and induced resistance to retinoic acid (RA)‐mediated cell growth inhibition. In contrast, knockdown of NLRR2 exhibited growth inhibition effects and enhanced RA‐induced cell differentiation in NB cells. After RA treatment, NLRR2 expression was increased and correlated with the upregulation of c‐Jun, a member of the activator protein‐1 (AP‐1) family in NB cells. Moreover, the expressions of NLRR2 and c‐Jun were suppressed by treatment with a JNK inhibitor, which ameliorated the promoter activity of the NLRR2 gene while knockdown of c‐Jun reduced NLRR2 expression. We then searched AP‐1 binding consensus in the NLRR2 promoter region and confirmed c‐Jun recruitment at a consensus. Conclusively, NLRR2 must be an inducible gene regulated by the JNK pathway to enhance cell survival and inhibit NB cell differentiation. Therefore, NLRR2 should have an important role in NB aggressiveness and be a potential therapeutic target for the treatment of RA resistant and aggressive NB.     

The Effectiveness of Respondent Driven Sampling for Recruiting Males Who have Sex with Males in Dhaka,Bangladesh

This paper evaluates the effectiveness of respondent driven sampling (RDS) to sample males who have sex with males (MSM) in Dhaka, Bangladesh. A major objective for conducting this survey was to determine whether RDS can be a viable sampling method for future routine serologic and behavioral surveillance of MSM as well as other socially networked, hard to reach populations in Bangladesh. We assessed the feasibility of RDS (survey duration; MSM social network properties; number and types of initial recruits) to recruit a diverse group of MSM, the efficacy of an innovative technique (systematic coupon reduction) to manage the implementation and completion of the RDS recruitment process and reasons why MSM participated or did not participate. The findings provide useful information for improving RDS field techniques and demonstrate that RDS is an effective sampling method for recruiting diverse groups of MSM to participate in HIV related serologic and behavioral surveys in Dhaka.     

Evaluation of the Clearance of a Sublingual Buprenorphine Spray in the Beagle Dog Using Gamma Scintigraphy

Purpose The aim of this study was to evaluate clearance from the buccal cavity and pharmacokinetic profiles of a sublingual spray formulation in the dog, to assist in interpretation of future pharmacokinetic studies. Methods Radiolabelled buprenorphine in a spray formulation (400 μg/100 μl in 30% ethanol) was administered sublingually to four beagle dogs, and the residence in the oral cavity was determined using gamma scintigraphy. Pharmacokinetic sampling was performed to facilitate correlation of location of dose with significant pharmacokinetic events. Results Scintigraphic imaging revealed that clearance of the formulation from the oral cavity was rapid, with a mean T _50% clearance of 0.86 ± 0.46 min, and T _80% clearance of 2.75 ± 1.52 min. In comparison, absorption of buprenorphine was relatively slow, with a T _max of 0.56 ± 0.13 h. Good buccal absorption despite short residence time can be explained by lipophilicity of buprenorphine enabling rapid sequestration into the oral mucosa, prior to diffusion and absorption directly into systemic circulation. Conclusion This study demonstrated rapid clearance of a sublingual solution from the canine oral cavity, with T _50% similar to results previously reported in man, providing initial confidence in using a conscious dog model to achieve representative residence times for a sublingual solution.     

Effect of acute unilateral renal denervation on renal hemodynamics in spontaneously hypertensive rats

1 This study was undertaken to characterize the renal responses to acute unilateral renal denervation in anaesthetized spontaneously hypertensive rats (SHR) by examining the effect of acute unilateral renal denervation on the renal hemodynamic responses to a set of vasoactive agents and renal nerve stimulation. 2 Twenty-four male SHR rats underwent acute unilateral renal denervation and the denervation was confirmed by significant drop (P < 0.05) in renal vasoconstrictor response to renal nerve stimulation along with marked diuresis and natriuresis following denervation. After 7 days treatment with losartan, the overnight fasted rats were anaesthetized (sodium pentobarbitone, 60 mg kg(-1) i.p.) and renal vasoconstrictor experiments were performed. The changes in the renal vasoconstrictor responses were determined in terms of reductions in renal blood flow caused by renal nerve stimulation or intrarenal administration of noradrenaline, phenylephrine, methoxamine and angiotensin II. 3 The data showed that there was significantly (all P < 0.05) increased renal vascular responsiveness to the vasoactive agents in denervated rats compared to those with intact renal nerves. In losartan-treated denervated SHR rats, there were significant (all P < 0.05) reductions in the renal vasoconstrictor responses to neural stimuli and vasoactive agents as compared with that of untreated denervated SHR rats. 4 The data obtained in denervated rats suggested an enhanced sensitivity of the alpha(1)-adrenoceptors to adrenergic agonists and possible increase of AT(1) receptors functionality in the renal vasculature of these rats. These data also suggested a possible interaction between sympathetic nervous system and renin-angiotensin system in terms of a crosstalk relationship between renal AT(1) and alpha(1)-adrenoceptor subtypes.