Intestinal tuberculosis and secondary liver abscess

The incidence of intestinal tuberculosis (ITB) has been increasing in the West, due to the AIDS epidemic, transglobal immigration, IV drug abuse, an aging population, and an increase in the number of immunocompromised patients. Obstruction and perforation of the intestine are the most common and serious complications of ITB. Another complication, tuberculous liver abscess (TLA), is rare and usually associated with foci of infection in the lung or gastrointestinal tract. We report a case of a 17-year-old boy with Down syndrome who presented with multiple TLAs secondary to obstructive and multiple perforated ileal tuberculosis.     

Middle lobe syndrome in children with asthma: review of 56 cases.

OBJECTIVE: Middle lobe syndrome (MLS) is one of the complications of asthma. Its signs and symptoms are often nonspecific, causing delay in appropriate treatment. We aimed to review our pediatric asthmatic patients and provide differential characteristics between MLS and asthma worsening in order to target early diagnosis. METHOD: File records of all asthmatics (n=3528) seen in our clinic during the last 2 years were retrospectively reviewed to identify the patients with MLS, and a case-control study was undertaken. Files of 56 asthmatic children diagnosed as MLS, with a total of 63 episodes, and 63 matched controls with asthma worsening were analyzed and compared. RESULTS: The incidence of MLS was 1.62% and half were below or at the age of 6. All cases with MLS were documented radiologically, and only 5 of the 63 episodes had physical findings suspicious for MLS. The most affected segments were right middle lobe (50%) and left lingula (26.2%). Although in all cases symptoms cleared, in 23 (36.5%) cases, atelectasis persisted radiologically. Compared to controls, patients with MLS included less atopics (34.9% vs. 59.4%, p<0.05) and fewer boys (52.4% vs. 71.4%, p<0.05), and they reported less frequent dyspnea (57.1% vs. 85.9%), more frequent sputum production (49.2% vs. 7.8%), and longer duration of complaints (22.0+/-6.23 vs. 2.4+/-0.31 days) (p<0.001, for each). Furthermore, the resolution of symptoms took significantly longer (45.2+/-9.3 vs. 3.3+/-0.4 days, p<0.001). CONCLUSION: We conclude that complicating MLS in childhood asthma is more frequent in younger ages, girls, and nonatopics. In most cases, physical findings are not informative, and chest radiographs diagnose most but not all cases. The most suggestive symptoms are unresolving/persisting symptoms during admission and/or following treatment.     

Focal fibrocartilaginous dysplasia in the humerus

Focal fibrocartilaginous dysplasia is an uncommon, benign bone lesion that causes deformity of the long bones in young children. It has most commonly been encountered in the proximal tibia, and very rarely in the long bones of the upper limb, that is, the proximal humerus, distal radius, ulna and proximal phalanx. Only one case of focal fibrocartilaginous dysplasia of the proximal humerus has been reported previously. The present study reports two such additional cases that were diagnosed in late childhood. The clinical presentation and radiographic findings are described with an emphasis on the natural evolution of the disease. Limb-length discrepancy is anticipated in these children in the long-term follow-up and, therefore, surgical intervention should be considered in treatment.     

IL-10 genotype predicts serum levels of adhesion molecules, inflammation and atherosclerosis in hemodialysis patients

BACKGROUND: Hemodialysis (HD) patients suffer from inflammation and accelerated atherosclerosis that accounts for a large number of premature deaths. The anti-inflammatory interleukin (IL)-10 gene is polymorphic and potential direct effects of IL-10 gene polymorphisms on the circulating serum levels of adhesion molecules, inflammation and atherosclerosis in HD patients still have to be elucidated. METHODS: In a cross-sectional study, circulating serum levels of vascular cell adhesion molecule-1 (VCAM-1), E-selectin (E-selectin), and intracellular adhesion molecule-1 (ICAM-1), serum albumin and C-reactive protein (CRP) were measured in 121 HD patients (70 male and 51 female, with mean age 49 +/- 18 yrs). Carotid artery intima media thickness (IMT) was evaluated by Doppler ultrasonography. Patients were genotyped for the polymorphic base at position -1082 of the IL-10 promoter sequence by polymerase chain reaction (PCR). RESULTS: Circulating serum levels of all three adhesion molecules were higher in patients with -1082/AA genotype (p = 0.001). Higher serum albumin levels together with lower CRP levels were observed in patients with -1082/GG genotype (p < 0.05). Prevalence of atherosclerosis was higher in patients with -1082/AA genotype compared to heterozygous and -1082/GG genotype (41, 34 and 26%, respectively, p = 0.018). CONCLUSIONS: These results suggest that IL-10 gene polymorphism has an effect on inflammatory process and atherosclerosis in HD patients. Endothelial protective functions of IL-10 can modulate the circulating serum levels of adhesion molecules. Therefore, IL-10 gene polymorphism could lead to high or low inflammatory process and consequently, to atherosclerosis. IL-10 genotyping can define a high-risk group for atherosclerosis among HD patients.     

Acute myeloblastic leukemia achieving complete remission with amifostine alone

Amifostine, a phosphorylated thiol-amine, is known as a cytoprotective agent especially for cisplatin containing chemotherapies. Apart from the cytoprotective role, Amifostine could also be used in the treatment of hematologic malignancies such as myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML), as a treatment option or for potentiating the effects of cytotoxic agents. We tried to use Amifostine in a patient with AML, which did not respond to conventional cytotoxic chemotherapy and aimed to publish the results. The patient was a 77-year-old male patient, he was diagnosed as AML by peripheral blood smear and bone marrow aspiration. Treatment commenced with low dose cytosine arabinoside (Ara-C) but the therapy should have ceased due to patient intolerance. The patient refused further therapy and he was offered to have Amifostine treatment. Amifostine was administered 200 mg/m2 three times a week, with ciprofloxacin, pentoxifyllin and dexamethasone. Dramatic response was obtained after 8 weeks of administration. Blast rate was reduced from 35 to 7% in bone marrow aspiration; pancytopenia was restored to normal levels. This remission was maintained through 8 more weeks. Amifostine treatment was restarted after he relapsed but this time he did not respond to the treatment and died of gastrointestinal bleeding on the 8th week of treatment.     

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) can occur as a result of mutations in the subunits that form the ATP-sensitive potassium channel (K+ATP) in pancreatic beta-cells which play a major role in modulating insulin secretion from the beta-cells. Mutations have been shown in the genes for these subunits, namely for the plasma membrane sulfonylurea receptor (SUR1), ABCC8, and its associated inwardly rectifying potassium channel (KIR6.2) KCNJ11. Drugs which act on K+ATP channels, such as diazoxide, seem to need intact ABCC8 to be able to show their effects. Thus, it would be desirable to know the exact locus of the abnormality in the beta-cell to be able to choose the right therapeutic agent or to perform early pancreatectomy. The aim of this study was to search for the correlation between the mutations of the K+ATP channel and the outcome of therapeutic measures in patients with PHHI followed for a duration of 4 months to 7.3 years. Thirteen patients (5 F, 8 M) with PHHI with a median age of 2.5 months (8 days-12.1 years) were included in the study. Therapy for PHHI was initiated either with diazoxide (n = 9) or with calcium channel blocker (n = 4) as the agent of first choice. Three patients unresponsive to drugs underwent 95% pancreatectomy. Mutation analysis was performed by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) in DNA samples extracted from patients' peripheral leukocytes. The PCR products were directly sequenced. Screening of ABCC8 and KCNJ11 for mutations revealed abnormalities in the ABCC8 gene in three patients out of 13: homozygosity for the 155del1 mutation, compound heterozygosity for T267-->G/A4612-2-->G, and compound heterozygosity for G4310-->A/ R1494Q. No mutations in the KCNJ11 gene were identified. Of the three patients who underwent pancreatectomy, two had identified mutations and one did not have any known mutation. In two patients in whom hyperinsulinism recurred after surgery and in the rest of the children, therapy with either diazoxide or calcium channel blocker proved to be effective in controlling hypoglycemia over the follow-up period. Thus it may be concluded that mutations in the ABCC8 gene were not predictive of the response to drugs. Unidentified mutations in the K+ATP channels other than those screened or other functional abnormalities in these channels may account for the different therapeutic responses.     

Expression of brain-derived neurotrophic factor and tyrosine kinase B receptor proteins in glioneuronal tumors from patients with intractable epilepsy: colocalization with N-methyl-D-aspartic acid receptor

Recent evidence suggests that brain-derived neurotrophic factor (BDNF) and its tyrosine kinase B (TrkB) receptor, in addition to promoting neuronal survival and differentiation, modulates synaptic transmission by increasing N-methyl-D-aspartic acid receptor (NMDAR) activity. Overexpression of BDNF may, then, interfere with normal brain function, causing increased excitability. We have examined the immunohistochemical expression of BDNF, full-length TrkB receptor and the NMDAR subunit 1 and subunit 2A/B proteins (NMDAR1 and NMDAR2A/B) in glioneuronal tumors (gangliogliomas, GG, n = 40; dysembryoplastic neuroepithelial tumors, DNT, n = 15), from patients with chronic intractable epilepsy. The great majority of tumors studied were positive for all markers examined, supporting the high level of neurochemical differentiation of these lesions. BDNF and TrkB immunoreactivity (ir) was mainly observed in the neuronal component of the tumors. In GG, more than 90% of tumors contained very intense BDNF-ir ganglion cells. Double labeling confirmed the presence of BDNF-ir and TrkB-ir in neurons which contained NMDAR1. NMDAR2A/B intensely labeled abnormal neurons in both GG and DNT and co-localized with NMDAR1. The presence of BDNF and its receptor in the neuronal component of GG and DNT may suggest a role for this neurotrophin in the development of these lesions, preventing the death of abnormal neuronal cells. In addition, since these neurons contain both NMDAR1 and NMDAR2A/B subunits, the BDNF-TrkB pathway may also contribute through a modulation of glutamatergic transmission to the intrinsic epileptogenicity of glioneuronal tumors.