Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

Mutations in SH2D1A, encoding the intracellular adaptor signaling lymphocyte activation molecule associated protein (SAP), are associated with X‐linked lymphoproliferative disease type 1 (XLP1). We identified a novel hemizygous SH2D1A c.49G > A (p.E17K) variant in a 21‐year‐old patient with fatal Epstein‐Barr virus infection–associated hemophagocytic lymphohistiocytosis. Cellular and biochemical assays revealed normal expression of the SAP variant protein, yet binding to phosphorylated CD244 receptor was reduced by >95%. Three healthy brothers carried the SH2D1A c.49G > A variant. Thus, data suggest that this variant represents a pathogenic mutation, but with variable expressivity. Importantly, our results highlight challenges in the clinical interpretation of SH2D1A variants and caution in using functional flow cytometry assays for the diagnosis of XLP1.     

A rapid and reliable procedure to localize subdural electrodes in presurgical evaluation of patients with drug-resistant focal epilepsy.

OBJECTIVES: To evaluate a novel method for localization of subdural electrodes in presurgical assessment of patients with drug-resistant focal epilepsy. METHODS: We studied eight consecutive patients with posterior epilepsy in whom subdural electrodes were implanted for presurgical evaluation. Electrodes were detected on post-implantation brain CT scans through a semiautomated procedure based on a MATLAB routine. Then, post-implantation CT scans were fused with pre-implantation MRI to localize the electrodes in relation to the underlying cortical structures. The reliability of this procedure was tested by comparing 3D-rendered MR images of the electrodes with electrode position as determined by intraoperative digital photography. RESULTS: In each patient, all electrodes could be correctly localized and visualized in a stereotactic space, thus allowing optimal surgery planning. The agreement between the procedure-generated images and the digital photographs was good according to two independent raters. The mean mismatch between the 3D images and the photographs was 2 mm. CONCLUSIONS: While our findings need confirmation on larger samples including patients with anterior epilepsy, this procedure allowed to localize subdural electrodes and to establish the spatial relationship of each electrode to the underlying brain structure, either normal or damaged, on brain convessity, basal and medial cortex. SIGNIFICANCE: Being simple, rapid, unexpensive, and reliable, this procedure holds promise to be useful to optimize epilepsy surgery planning.     

Laparoscopic subtotal gastric resection for chronic gastric ulcers.

OBJECTIVES: We analyzed our experience with the laparoscopic approach for treating benign gastric lesions. METHODS: Between June 1998 and June 2002, we performed 18 gastric resections with the laparoscopic approach for 7 pyloric stenoses, 8 recurrent duodenal ulcers, and 3 chronic gastric ulcers. RESULTS: In our series, we performed Billroth II laparoscopic distal gastrectomy with no morbidity and mortality. CONCLUSIONS: Billroth II laparoscopic distal gastrectomy is safe in cases of benign gastric or duodenal lesions.     

Asymmetric dimethyl-arginine (ADMA) response to inflammation in acute infections.

BACKGROUND AND METHODS: The endogenous inhibitor of nitric oxide synthase (NOs) asymmetrical dimethyl-arginine (ADMA) has been implicated as a possible modulator of inducible NOs during acute inflammation. We examined the evolution in the plasma concentration of ADMA measured at the clinical outset of acute inflammation and after its resolution in a series of 17 patients with acute bacterial infections. RESULTS: During the acute phase of inflammation/infection, patients displayed very high levels of C-reactive protein (CRP), interleukin-6 (IL-6), procalcitonin and nitrotyrosine. Simultaneous plasma ADMA concentration was similar to that in healthy subjects while symmetric dimethyl-arginine (SDMA) levels were substantially increased and directly related with creatinine. When infection resolved, ADMA rose from 0.62 +/- 0.23 to 0.80 +/- 0.18 micromol/l (+29%, P = 0.01) while SDMA remained unmodified. ADMA changes were independent on concomitant risk factor changes and inversely related with baseline systolic and diastolic pressure. Changes in the ADMA/SDMA ratio were compatible with the hypothesis that inflammatory cytokines activate ADMA degradation. CONCLUSIONS: Resolution of acute inflammation is characterized by an increase in the plasma concentration of ADMA. The results imply that ADMA suppression may actually serve to stimulate NO synthesis or that in this situation plasma ADMA levels may not reflect the inhibitory potential of this methylarginine at the cellular level.     

Carcinoma of the male breast. Our experience

A case series of 5 male patients afflicted with breast carcinoma is reported. The Authors describe symptomatology, diagnostic iter, principles of surgical treatment and results. Underlined is the wider surgical demolition in male breast cancer in comparison with females, even if natural history and biological conduct are comparable. This is because in male breast carcinoma the local and remote infiltration is more rapid than female for the less development of breast gland. Finally, indications for radiochemotherapy are comparable to female breast cancer.     

Local-regional thrombolytic therapy using streptokinase in a case of axillary venous thrombosis

A case of deep vein thrombosis of the axillary vein treated with local thrombolytic therapy with streptokinase in a superficial vein of the hand and controlled phlebographically, is reported. Therapeutic effectiveness, simplicity of the method and absence of hemorrhagic complications are underlined.     

Assessment of split renal function with99mTc-aprotinin

The aim of this work is to correlate the net kidney uptake of^99mTc-aprotinin (TcA) in 103 subjects with separate effective renal plasma flow (ERPF) and some blood chemistry parameters at 90, 180, and 360 min postinjection both in the normal and diseased kidney. Correlations found with separate ERPFs are highly significant at any time (P < 0.001). However, although the slope of the regression line is steeper at 180 min,r tends to deteriorate slightly with time postinjection and a higher intercept on they axis: this pattern is more pronounced if diseased kidneys are considered separately. The following are probably related to the renal handling of TcA: (1) Early scans better reflect blood flow to the kidney, while later scans are more related to the metabolism/excretion tubular mechanisms; (2) correlations found with urea, creatinine, urea clearance, and creatinine clearance are highly significant at any time; (3) in 20 additional patients with diseased kidneys, renal uptake measurements done 360 min postinjection first with TcA and then with DMSA showed better correlations with ERPF employing TcA. Our results indicate that TcA is a feasible indicator of split renal function even at 90 min postinjection when a scan is easily carried out on an outpatient basis.This paper was in part presented at the European Nuclear Medicine Congress, August 14–17, 1984, Helsinki, Finland     

Tracheomalacia in oesophageal atresia: morphological considerations by endoscopic and CT study.

OBJECTIVE: A Tracheomalacia complicates 11-33% of cases of Oesophageal Atresia with distal Tracheo-Oesophageal Fistula. The lesion generally involves only the thoracic segment of the trachea, and it has close anatomical relationships with the mediastinal structures, specially with the aortic arch. We therefore tried to define the most important morphotypes of tracheobronchial malacia by using dynamic fiberoptic bronchoscopy (DFB) and spiral multilayer computed tomography (CT). METHODS: Between 1999 and 2003 we studied 40 children from two different institutions who had been operated on at birth for oesophageal atresia. All patients were been submitted to DFB, and the positive cases underwent examination by CT with an iodinated contrast medium. CT angiographic images of great vessels and multiplanar and three-dimensional images of the airways (virtual broncoscopy and broncography) were obtained for morphological evaluation. RESULTS: Twenty-five patients (62%) tested positive for malacia using DBF and all were also confirmed by CT study. In 11 cases (46%), the malacia was located at the thoracic section of the trachea, which was occluded by compression of the aorto-innominate complex. A simple intrinsic tracheomalacia without any vascular compression was present in eight cases (33%), while in five cases (21%), the malacia was complex. CONCLUSIONS: A correct morphological analysis of the malformed segment permitted 'tailored surgery' for each individual patient, allowing us to take account of the type of malacia, its length, and the compressive action exercised by the mediastinal great vessels.