Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.

The incorporation of next generation sequencing into routine immunological practice has enabled the identification of novel inborn errors of disease, helped define new categories of immune deficiency and extended the clinical spectrum associated with many long-recognised diseases. The family of EBV (Epstein Barr Virus)-sensitive primary immune deficiencies is one such group and in this paper we describe three families: two with X-linked lymphoproliferative disease type-1 (XLP-1) and one with deficiency of Interleukin-2 Inducible T-cell Kinase (ITK). Both diseases have a wide range of clinical manifestations and are united by an exquisite predisposition to EBV, dysgammaglobulinemia, hemophagocytic lymphohistiocytosis, and lymphoma. We detail our approach to diagnosis, treatment, and risk stratification in these diseases where both clinicians and patients must grapple with constant uncertainty.

Varroa chemosensory proteins: some are conserved across Arthropoda but others are arachnid specific.

The tight synchronization between the life cycle of the obligatory parasitic mite Varroa destructor (Varroa) and its host, the honeybee, is mediated by honeybee chemical stimuli. These stimuli are mainly perceived by a pit organ located on the distal part of the mite's foreleg. In the present study, we searched for Varroa chemosensory molecular components by comparing transcriptomic and proteomic profiles between forelegs from different physiological stages, and rear legs. In general, a comparative transcriptomic analysis showed a clear separation of the expression profiles between the rear legs and the three groups of forelegs (phoretic, reproductive and tray-collected mites). Most of the differentially expressed transcripts and proteins in the mite's foreleg were previously uncharacterized. Using a conserved domain approach, we identified 45 transcripts with known chemosensory domains belonging to seven chemosensory protein families, of which 14 were significantly upregulated in the mite's forelegs when compared to rear legs. These are soluble and membrane bound proteins, including the somewhat ignored receptors of degenerin/epithelial Na+ channels and transient receptor potentials. Phylogenetic clustering and expression profiles of the putative chemosensory proteins suggest their role in chemosensation and shed light on the evolution of these proteins in Chelicerata.

Positron emission tomography/computed tomography with 18fluoro-deoxyglucose in the detection of local recurrence and distant metastases of pediatric sarcoma.

BACKGROUND: Combined positron emission tomography with (18)fluoro-deoxyglucose and computed tomography (FDG-PET/CT) has been used in the diagnosis and staging of various malignancies, but their use in the management of pediatric sarcomas is less well defined. The potential role of FDG-PET/CT in the diagnosis of local recurrence and distant metastases of pediatric sarcomas was investigated. PROCEDURE: Nineteen children (aged 2-21) with sarcoma (9 Ewing sarcoma, 3 osteogenic sarcoma, 7 rhabdomyosarcoma) were evaluated between January 2000 and December 2005 by FDG-PET/CT for suspected local relapse or distant metastases. The results of 21 FDG-PET studies, 16 CT scans, 9 magnetic resonance imaging (MRI) studies, and 7 bone scans (BSs) were compared with surgical pathology or clinical follow-up for at least 3 months. RESULTS: FDG-PET detected local relapse in all seven patients and distant metastases in 10/13 (77%). FDG-PET/CT and CT/MRI/BS results were discordant in eight patients. FDG-PET/CT was the only modality that detected distant metastases in two patients. PET/CT was true negative and excluded disease in three patients with abnormal CT/BSs and was false negative in three patients with distant metastases. CONCLUSION: FDG-PET/CT may be useful and complementary to other imaging modalities for the detection of recurrent pediatric sarcomas, especially at the primary site. Its potential advantages and limitations compared with conventional imaging modalities need to be further investigated in larger homogenous patient groups.

[Colitis due to radiation: endoscopic management with heat probe]. / Colitis por radiación: manejo endoscópico con sonda caliente.

Rectal bleeding is a frequent symptom in radiation colitis, and is due to vascular lesions usually confined to the rectum. We present our preliminary experience with the use of the heater probe, in eight patients with radiation proctitis, whose main symptom was rectal bleeding. Six patients had radiation for carcinoma of the cervix and 2 had endometrial cancer. One to four sessions of coagulation were performed with an intensity of 200 to 400 Joules per session. In all patients a good response was obtained, bleeding diminished or stopped completely, with improvement of blood counts and the need for transfusions. We think that heater probe is a good therapeutic alternative, for the management of these difficult complication.

[Heat probe: its use in the palliation of stenosing and bleeding tumors of the digestive tract. Preliminary report]. / Sonda caliente: su uso en paliación de tumores estenosantes y sangrantes del tubo digestivo. Comunicación preliminar.

We present our experience with the use of Heater Probe (H.P.) of the management of malignant stenoses of Gastrointestinal (G.I.) tract. We treated 6 patients: 4 with esophageal cancer, 1 cancer of rectum and 1 malignant infiltration of sigmoid colon. The symptoms were: dysphagia: 4 cases, rectal bleeding: 1 case and bleeding plus obstruction: 1 case. The symptoms were relieved in 5 of the 6 cases. In 1 case with dysphagia there were not response. The H.P. can represent a valid alternative in the palliation of malignant obstruction.

[Colonoscopic dilator: a new instrument in the management of benign stenosis of the colon and rectum]. / Colonoscopio dilatador. Un nuevo instrumento en el manejo de las estenosis benignas de colon y recto.

Experience with a colonoscope with a distal segment that allows for the incorporation of dilating olives of the Eder Puestow type is presented. 15 patients with the diagnosis of benign stenosis of the colon or rectum who suffered of abdominal pain and constipation were treated. In 13 patients it was possible to eliminate the patients symptoms. There where no complications. The dilating colonoscope is a valid, alternative in the management of stenosis of the colon and rectum.

Usefulness of myoglobin radioimmunoassay determintion in CCU.

In 112 patients with an acute coronary event, admitted to the CCU of Assaf-Harofeh Hospital, myoglobin radioimmunoassay was determined at 0 (time of admission), 12 and 24 hours. In 77 patients with acute myocardial infarction (M.I.) (64 patients with acute transmural and 13 with acute subendocardial M.I.), the myoglobin values were significantly increased. Appearing in blood 3-4 hours after the onset of chest pains, myoglobin represents the earliest marker of acute M.I. known until know. In 12 of 23 cases diagnosed at first as acute coronary insufficiency according to clinical, biological and E.C.G. criteria, significantly increased values of myoglobin were found, as an expression of micro-necroses which were not detected by conventional methods (SGOT, CPK, LDH). This finding has important practical, prognostic and therapeutical implications, showing that myoglobin radioimmunoassay may detect myocardial micronecroses which are not discovered by usual methods. Myoglobin radioimmunoassay assessment offers a valuable indication of necrosis extent. Values above 800 ng/ml were accompanied in 65% of our cases with symptoms and signs of left heart failure, the highest values of myoglobin being found in extensive anterior M.I. associated with acute pulmonary edema. In 9 non cardiac patients with repeated intra-muscular injections with antibotics, the myoglobin was at the upper normal limit, demonstrating that intra-muscular injections, at least with antibiotics, have no influence on myoglobin values. From our experience it appears that the myoglobin radioimmunoassay determination is a useful tool for the early establishment of M.I. diagnosis and the assessment of myocardial necrosis extent.

Erosive lichen planus and fibroxanthosarcoma (malignant fibrohistiocytoma): coincidence or association?

Severe erosive lichen planus of the skin and oral and anal mucosae coincided with retroperitoneal fibroxanthosarcoma (malignant fibrohistiocytoma) in an asthmatic patient. Clinical evolution after surgical removal of the tumor, radiotherapy, and chemotherapy was favorable, with great improvement of the lichen planus and the asthma. The exact nature of the relationship between erosive lichen planus and tumors is not known, but there is circumstantial evidence that their coexistence is not just a fortuitous coincidence.