Hypokalemia complicating Duchenne muscular dystrophy

Although patients with Duchenne muscular dystrophy (DMD) have been shown to have decreased total body potassium levels, serum potassium levels have generally been though to be within normal limits. We report two siblings with DMD noted to be hypokalemic in conjunction with a respiratory illness. Hypokalemia may have exacerbated the pre-existing pulmonary insufficiency in these patients. The literature concerning hypokalemia and DMD is reviewed, and recommendations for the closer monitoring of serum potassium levels in patients with DMD are presented.     

Analysis of a four-year experience with depth electrodes and a two-year experience with subdural electrodes in the evaluation of ablative seizure surgery candidates

Chronically implanted depth and subdural electrodes have both been shown to be satisfactory means of localizing epileptogenic foci. Utilizing bilateral mesial temporal depth electrodes, we have localized mesial temporal foci in a large percentage of patients. Depth electrode investigation of a more limited number of patients with suspected extramesial temporal foci has not been as reliable in giving localizing information. We have more recently used subdural electrodes to investigate this latter category of patients, and preliminary findings suggest that this technique may be of localizing value in several subcategories.     

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.

Clinical teaching dictates that isolated unicoronal synostosis is sporadic in occurrence and is possibly related to intrauterine constraint. Despite this, isolated reports document a familial occurrence. It has previously been recognized that there may be a familial pattern of inheritance. Recently, mutations in fibroblast growth factor receptors (FGFRs) have been implicated in several syndromic craniosynostoses. At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. Two cases of unicoronal synostosis were found to have the same Pro250Arg missense mutation in FGFR3. This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. Thirty-seven patients with unicoronal synostosis had mutational studies. Two additional patients were known to have the FGFR3 mutation at the onset of the study. Of the 37 patients screened, four were found to have the FGFR3 mutation, for a total of six patients with both unicoronal synostosis and the FGFR3 mutation. All patients with unicoronal synostosis were evaluated for facial dysmorphology and operative outcome. The six patients with the FGFR3 mutation had more severe cranial dysmorphology and were more likely to need surgical revision than those without the FGFR3 mutation. The occurrence of the FGFR3 mutation among patients with unicoronal synostosis provides evidence for a genetic basis of certain forms of plagiocephaly. The clinical, radiologic, and molecular findings will be an important addition to the surgical management and counseling of patients with unicoronal synostosis.     

Interferon therapy in neoplastic diseases

Three types of interferon preparation (alpha, beta and gamma) have been used in the treatment of tumours in vivo. At the time of writing no information is available on IFN-gamma treatment of tumour patients. Treatments with IFN-alpha and IFN-beta have been undertaken at many clinical centres. Both types of preparation can exert side effects. Both types have also been able to cause regression of certain tumours in individual patients. At our hospital, IFN-alpha has been given to tumour patients over the last decade. Antitumour effects have been registered on patients with juvenile laryngeal papillomatosis, Hodgkin's disease, myelomatosis, ovarian carcinoma, hypernephroma and glioblastoma. Further study is needed on how therapy with IFN should best be undertaken and also how such treatment compares with other treatments of various tumour diseases. IFN therapy should also be combined with other such treatments.     

Severe adult burn survivors. What information about skin allografts?

During the acute phase of a severe burn, surgery is an emergency. In this situation, human skin allografts constitute an effective temporary skin substitute. However, information about the use of human tissue can not be given to the patients because most of the allografted patients are unconscious due to their injury. This study explored the restitution of information on skin donation to patients who have been skin allografted and who have survived their injury. A qualitative study was conducted due to the limited number of patients in ability to be interviewed according to our medical and psychological criteria. 12 patients who had been treated between 2002 and 2008 were interviewed. Our results show that 10 of them ignored that they had received skin allografts. One of the two patients who knew that they had received allografts knew that skin had been harvested from deceased donor. All patients expressed that there is no information that should not be delivered. They also expressed their relief to have had the opportunity to discuss their case and at being informed during their interview. Their own experience impacted their view in favor of organ and tissue donation.     

Platelet autoantigens: identification and characterization using immunoblotting

Antiplatelet autoantibodies are important in the etiology of idiopathic (or immune) thrombocytopenic purpura (ITP). Studies using immunoblotting techniques have been helpful in identifying the antigenic target proteins for the antibodies. Antibodies against the glycoprotein (GP) IIIa portion of the GPIIb/IIIa complex were the first to be demonstrated by this approach. Similar GPIIIa autoantigens have also been found to be the most frequent targets of ITP antibodies. Not all anti-GPIIIa antibodies are directed against the same epitope on GPIIIa. A subset of anti-GPIIIa antibodies found in patients with an acquired qualitative platelet dysfunction actually interfere with fibrinogen binding to normal platelets. Antibodies directed against targets on GPV have been found in patients with acute ITP of childhood. In patients with ITP associated with lupus erythematosus, antibodies which bind to intracellular proteins of apparent molecular weights of 66 and 108 kDa have been detected. Thus, ITP antibodies can have a variety of target antigens. Study of larger series of patients will determine whether identification of platelet autoantigens correlates with clinical course of ITP.     

Place of thyroglobulin antibodies assay in laboratory diagnostic of autoimmune thyroid diseases

Tyroglobulin and thyroid peroxidase antibodies have been estimated in patients with thyroid autoimmune diseases. In a group of 109 patients with Hashimoto's thyroidities 85.53% and 78.89% were positive for Tyroglobulin antibodies and anti-TPO antibodies respectively. The anti-Tg antibodies has not been detected in 14.67% and anti-TPO in 21.1% patients. Both antibodies have not been detected in 1.83% of patients. In a group of 79 patients with Graves' disease 62.02 and 91.13% were positive for anti-Tg and anti-TPO antibodies respectively. The anti-Tg antibodies has not been detected in 37.97% and anti-TPO in 8.66% patients. Both antibodies have not been detected in one patients with exophtalmos (1.26%). Our results indicate that anti-tyroglobulin antibodies should be estimated only in patients suspected for thyroid autoimmune disease and negative for thyroid peroxidase antibodies.     

Sialic acid and carcinoembryonic antigen (CEA) as markers of colon cancer: Preliminary report]

Tumor markers known to date are not sensitive and specific enough to detect malignant tumors. Therefore, attempts to find new markers have led to sialic acid assays in cancer patients. Serum sialic acid, CEA and ESR have been determined in 33 patients with the cancer of the colon. All patients have been divided into four groups, according to TNM cancer staging. Serum sialic acid levels have been increased by 100% of patients in groups I and IV. The most significant correlation was noted between sialic acid levels and ESR. No significant relationship between serum sialic acid and CEA have been noted. No correlation of the colon cancer stage, according to TNM staging, and sialic acid and CEA levels in the peripheral blood has been observed. It seems, however, that serum sialic acid assay may be useful auxiliary technique in the detection and monitoring of patients with colon cancer.     

Aromatase inhibitors and their application in breast cancer treatment*

Estrogens are known to be important in the growth of breast cancers in both pre- and postmenopausal women. The number of breast cancer patients with hormone-dependent disease increases with age, as does the incidence of breast cancer. Although estrogens are no longer made in the ovaries after menopause, peripheral tissues produce sufficient concentrations to stimulate tumor growth. Because aromatase catalyzes the rate-limiting step in the biosynthesis of estrogen, inhibitors of this enzyme have been developed in the last few years as a logical treatment strategy. Two classes of aromatase inhibitors, steroidal and nonsteroidal compounds, are now in use. Among the steroid substrate analogs, formestane and examestane have been shown to be effective in breast cancer patients with advanced disease. Highly potent and selective nonsteroidal inhibitors have recently been found to suppress plasma and urinary estrogens by more than 95% in breast cancer patients. Two of these compounds recently were approved in the United States and have been shown to be more effective than other second-line agents in terms of overall response rates and treatment failure, as well as better tolerated. Although studies of the efficacy of these agents in earlier stage disease are awaited, it is evident that aromatase inhibitors can extend the duration of treatment in breast cancer patients.     

Expanding the armamentarium for the spondyloarthropathies

Ankylosing spondylitis (AS) is a member of the family of spondyloarthropathies, which are inflammatory arthritides largely involving the axial skeleton and commonly accompanied by peripheral arthritis. Genetic factors, particularly the presence of HLA-B27, are major contributors to the susceptibility for AS. Despite some therapeutic advances, the treatment options for patients with AS and related disorders have been limited. Several lines of evidence have led to the hypothesis that patients with AS might benefit from treatment with tumor necrosis factor (TNF). Specifically, TNF concentrations are known to be significantly elevated in the synovium of patients with rheumatoid arthritis (RA), in the inflamed gut of patients with inflammatory bowel disease, and in the inflamed sacroiliac joints of patients with AS. The anti-TNF agents have been shown to be of benefit in, and currently have indications for, RA (etanercept, infliximab, adalimumab), Crohn's disease (infliximab), and psoriatic arthritis (etanercept). Because the spondyloarthropathies share pathogenetic mechanisms with the above-specified disease states, studies have been conducted to evaluate the effectiveness of anti-TNF agents in several disorders, including AS. Data from clinical trials so far with infliximab and etanercept show that patients with AS and related disorders achieve significant improvement in clinical signs and symptoms based on validated outcomes measures. Computed tomography and magnetic resonance imaging (MRI) can facilitate the early diagnosis of AS. Studies with infliximab using MRI together with updated scoring methods demonstrated significant decreases in associated spinal inflammation. TNF antagonist therapy is well tolerated in patients with AS, with a side effect profile consistent with the prior experience of patients with RA.     

Possible Mechanisms of Neurodegeneration in Schizophrenia

Brain morphological alterations in schizophrenic patients have led to the neurodevelopmental hypothesis of schizophrenia. On the other hand, a progressive neurodegenerative process has also been suggested and some follow-up studies have shown progressive morphological changes in schizophrenic patients. Several neurotransmitter systems have been suggested to be involved in this disorder and some of them could lead to neuronal death under certain conditions. This review discusses some of the biochemical pathways that could lead to neurodegeneration in schizophrenia showing that neuronal death may have a role in the etiology or natural course of this disorder.     

Exercise testing and training in patients with peripheral vascular disease and lower extremity amputation.

Patients with peripheral vascular disease have a high risk of coronary artery disease. The risk is even greater when the peripheral vascular disease leads to lower extremity amputation. Exercise testing using lower extremity exercise has been the "gold standard" for screening for coronary artery disease, but many patients with peripheral vascular disease and those with amputations have difficulty doing this type of exercise. Arm exercise ergometry has been shown to be a safe and effective alternative for the detection of coronary artery disease in patients who cannot do leg exercise. This test has also been used to determine safe exercise levels and may be able to predict the ultimate level of prosthetic use in amputees. Exercise training with arm ergometry also improves cardiovascular efficiency and upper body strength in poorly conditioned patients. Studies are needed to appreciate fully the role of exercise testing and training in the recovery of these patients after amputation.     

Potential markers of oxidative stress in stroke

Free radical production is increased in ischemic and hemorrhagic stroke, leading to oxidative stress that contributes to brain damage. The measurement of oxidative stress in stroke would be extremely important for a better understanding of its pathophysiology and for identifying subgroups of patients that might receive targeted therapeutic intervention. Since direct measurement of free radicals and oxidized molecules in the brain is difficult in humans, several biological substances have been investigated as potential peripheral markers. Among lipid peroxidation products, malondialdehyde, despite its relevant methodological limitations, is correlated with the size of ischemic stroke and clinical outcome, while F2-isoprostanes appear to be promising, but they have not been adequately evaluated. 8-Hydroxy-2-deoxyguanosine has been extensively investigated as markers of oxidative DNA damage but no study has been done in stroke patients. Also enzymatic and nonenzymatic antioxidants have been proposed as indirect markers. Among them ascorbic acid, alpha-tocopherol, uric acid, and superoxide dismutase are related to brain damage and clinical outcome. After a critical evaluation of the literature, we conclude that, while an ideal biomarker is not yet available, the balance between antioxidants and by-products of oxidative stress in the organism might be the best approach for the evaluation of oxidative stress in stroke patients.     

Radiation Enteropathy of the Small Bowel

The features of radiation injury of the small bowel are reviewed to focus attention on this uncommon but persistent problem which usually arises in women undergoing treatment for gynecological malignancy and which may be confused with recurrence of the malignant growth. Intestinal perforation, bleeding, obstruction and fistulas have all been observed in patients with radiation enteropathy. Three cases in which these complications occurred are reported. Early excisional surgery is considered to be the preferred treatment, although conservative surgical procedures have been used for patients who are very ill or for those with diffuse bowel changes. Medical measures alone have not been successful but have been utilized in preoperative preparation.     

Chronic viral hepatitis C: management update

The management of chronic viral hepatitis C is evolving rapidly. Monotherapy with interferon, the accepted standard of treatment until recently, achieves only a modest sustained virological response rate of 15%. Combination treatment with alpha-2b interferon and ribavirin has been shown to increase sustained response rates to 40% in patients who have never been treated with interferon and to 50% in those who have relapsed following monotherapy with interferon. However, side effects, which have led to the discontinuation of combination treatment in a significant proportion of patients, must be carefully monitored. Treatment with interferon alpha-2b and ribavirin has now been approved in Canada, but the selection and monitoring of patients suitable for combination treatment requires special expertise. Although improvements in current therapeutic options may be possible with more frequent, higher doses or long-acting forms of interferon together with ribavirin, low sustained response rates (i.e., below 30%) for patients with hepatitis C virus genotype 1 emphasize the need for novel antiviral medications that will target the functional sites of the HCV genome.     

The possible impact of socioeconomic,income, and educational status on adverse effects of drug and their therapeutic episodes in patients targeted with a combination of tuberculosis interventions

First-line antituberculosis (anti-TB) compounds have been considered as proven components of the Directly Observed Treatment-Short course (DOTS). Drug therapy against tuberculosis has been categorized as I, II, or III following the Revised National Tuberculosis Control Program guidelines. Anti-TB are drugs are quite common and show limited adverse effects. However, first-line anti-TB compounds mediated DOTS therapy and were found with several complications. Thus, those drugs have been discontinued. Therefore, the present study was designed to find out the possible impact of socioeconomic, income, and educational status on the adverse effects of drugs and their therapeutic episodes in patients targeted with a combination of tuberculosis intervention. This study found that an increased incidence of tuberculosis was found in patients who have finished high school, contributing to a high percentage of adverse effects. Notably, adverse events were shown maximally in poor patients compared with rich- or high-income patients. On the contrary, a high prevalence of adverse events was shown to be increased in partially skilled workers compared with full-skilled workers. Consequently, adversely considerable events were implicated to be raised in patients associated with minimal socioeconomic class. Such interesting factors would help in monitoring such events in experimental patients.     

Long-term results after microlymphaticovenous anastomoses for the treatment of obstructive lymphedema

Over the last 14 years, 134 patients with obstructive lymphedema have been treated with microlymphaticovenous anastomoses. Ninety patients were available for long-term follow-up study. Of these, 52 patients were treated by microlymphatic surgery only and 38 of them also had segmental or radical reduction surgery, either at the same time or secondarily. Objective assessment was undertaken by volume and circumferential measurements. Initially, lymphangiography was used, but a study demonstrated increased edema immediately following the investigation in one-third of the patients and it was abandoned, both preoperatively and postoperatively. In the microlymphaticovenous anastomoses only group (N = 52), subjective improvement occurred in 38 patients (73 percent). Objectively, volume changes showed a significant improvement in 22 patients (42 percent), with an average reduction of 44 percent of the excess volume. In the microlymphaticovenous anastomoses and reduction surgery, usually segmental, group (N = 38), subjective improvement occurred in 30 patients (78 percent) and objective improvement occurred in 23 patients (60 percent), with an average reduction of 44 percent of the excess volume. Of those followed up, 67 patients (74 percent) have been able to discontinue the use of conservative measures, with an average follow-up of 4.0 years and average reduction in excess volume of 26 percent. There was a 58 percent reduction in the incidence of cellulitis following surgery. In those patients who were improved, drainage resulted in increased softness of the limbs. Edema of the hand diminished considerably in most patients, although this was difficult to measure. These long-term results indicate that microlymphaticovenous anastomoses have a valuable place in the treatment of obstructive lymphedema and should be the treatment of choice in these patients. Reduction surgery can be used as an adjunct in some of these patients, especially in the posteromedial aspect of the upper arm. Liposuction has been used in failed cases or in patients in whom no lymphatics could be found. Improved results can be expected with earlier operations because patients referred earlier usually have less lymphatic disruption.     

Leptotrichia species in human infections

Leptotrichia species typically colonize the oral cavity and genitourinary tract. These anaerobic bacteria belong to the normal flora of humans and are seldom found in clinically significant specimens. However, on rare occasions, Leptotrichia has been isolated from blood cultures of patients with lesions in the oral mucosa, in particular from patients with neutropenia. These organisms should be considered potential pathogens in neutropenic patients, especially when breaks in the mucosal barriers are present through which they frequently spread to the bloodstream. Leptotrichia has also been recovered from immunocompetent persons, e.g. patients with endocarditis. Although their role in infections remains elusive and not much is known, they have been suggested as emerging pathogens. The present review deals with taxonomy, diagnosis, clinical importance, pathogenesis, host defence, infection control, and spectrum of Leptotrichia infections, and ends with a few typical case reports. Currently, six species have been validly published, but a number of yet uncultivable species exist. Molecular methods recovering uncultivable species should be used to get a real idea of their role as pathogens.