Research

Survey of early complications of primary skin graft and secondary skin graft (delayed) surgery after resection of burnwaste in hospitalized burn patients.

Glob J Health Sci. 2014;6(7 Spec No):38456

Authors: Enshaei A, Masoudi N

Abstract
INTRODUCTION: Burning is the second most common cause of home injuries in Iran that is often the cause of conflicts between children and young adults. Burning can lead to early and late complications that scar and contracture are the most common. Burn waste treatment is done by two methods: excision and then skin graft after the formation of granulation tissue; and excision and graft simultaneously that in this study, these two methods are compared.
METHODS: This was performed as a quasi-experimental analysis and retrospective study on all patients who were hospitalized for burn scar. All patients who have associated with weak eningimmune diseases such as diabetes, acquired immunodeficiency or congenital, taking steroids and patients undergoing chemotherapy etc. are excluded. The method of grafting in patients is primary graft procedure that was compared with patients who are treated using secondary graft. Data collected through review of patients’ hospital and clinic chart.
RESULTS: The mean burn percentage in the primary repair group was 14.4% and in the delayed repair group was 16.6%, respectively. The incidence of hematoma in both groups was zero. Skin necrosis and graft rejection and infection in the primary repair group was in 3.7% of patients and in the delayed repair group was in 1.2% of cases (P=0.5) CONCLUSION: Based on the findings of this study, no difference was observed between the two methods of excision and primary graft with delayed graft in the incidence of graft rejection. Due to the shorter treatment of primary graft and patient satisfaction and also according to the findings of this study excision and primary graft method seems appropriate method for treating old waste burning. 

PMID: 25363185 [PubMed – in process]

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Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

Pediatrics. 2014 Nov;134 Suppl 3:S180-1

Authors: Fleisher TA

PMID: 25363989 [PubMed – in process]

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Hyper-IgE syndromes: reviewing PGM3 deficiency.

Curr Opin Pediatr. 2014 Dec;26(6):697-703

Authors: Yang L, Fliegauf M, Grimbacher B

Abstract
PURPOSE OF REVIEW: The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema, recurrent skin and lung infections, and elevated serum IgE. Recently, mutations in phosphoglucomutase 3 (encoding PGM3, which is involved in the protein glycosylation pathway) have been identified in autosomal recessive forms of hyper-IgE syndromes.
RECENT FINDINGS: Autosomal recessive, hypomorphic PGM3 mutations cause a multisystem disorder, characterized by both a congenital glycosylation disease and a hyper-IgE syndrome. The reported mutations in PGM3 led to an impaired biosynthesis of UDP-GlcNAc and impaired tri-antennary and tetra-antennary N-glycan structures. Laboratory results in patients showed eosinophilia, a T-cell proliferation defect, and a reversed CD4/CD8 ratio. The impaired glycosylation in PGM3-mutant patients will not only affect proteins involved in the immune system, and thus causes a multisystem phenotype.
SUMMARY: The identification of hyper-IgE syndromes-associated mutations in PGM3 provides the basis for future studies on the pathophysiology and the molecular mechanisms of eczema, IgE dysregulation, and increased susceptibility to infections.

PMID: 25365149 [PubMed – in process]

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Integration Site and Clonal Expansion in Human Chronic Retroviral Infection and Gene Therapy.

Viruses. 2014;6(11):4140-4164

Authors: Niederer HA, Bangham CR

Abstract
Retroviral vectors have been successfully used therapeutically to restore expression of genes in a range of single-gene diseases, including several primary immunodeficiency disorders. Although clinical trials have shown remarkable results, there have also been a number of severe adverse events involving malignant outgrowth of a transformed clonal population. This clonal expansion is influenced by the integration site profile of the viral integrase, the transgene expressed, and the effect of the viral promoters on the neighbouring host genome. Infection with the pathogenic human retrovirus HTLV-1 also causes clonal expansion of cells containing an integrated HTLV-1 provirus. Although the majority of HTLV-1-infected people remain asymptomatic, up to 5% develop an aggressive T cell malignancy. In this review we discuss recent findings on the role of the genomic integration site in determining the clonality and the potential for malignant transformation of cells carrying integrated HTLV-1 or gene therapy vectors, and how these results have contributed to the understanding of HTLV-1 pathogenesis and to improvements in gene therapy vector safety.

PMID: 25365582 [PubMed – as supplied by publisher]

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Dramatic Improvement in the Multifocal Positron Emission Tomography Findings of a Young Adult with Chronic Granulomatous Disease Following Allogeneic Hematopoietic Stem Cell Transplantation.

J Clin Immunol. 2014 Nov 4;

Authors: Shigemura T, Nakazawa Y, Hirabayashi K, Kobayashi N, Sakashita K, Agematsu K, Koike K

Abstract
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects of nicotinamide adenine dinucleotide phosphate oxidase. Catalase-positive bacteria and fungi are phagocytosed, but persist within phagocytes, resulting in granulomatous inflammation. Although allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for CGD, HSCT sometimes leads to fatal outcomes related to the exacerbation of persistent infectious or post-infectious inflammatory diseases, particularly in adolescent and young adult patients with a history of recurrent infections and/or multiple granulomas in organs. Here, we present the case of a young adult with X-linked CGD in whom multiple lesions were found in lungs and lymph nodes on both computed tomography and positron emission tomography (PET) scans before allogeneic HSCT, but all the lesions disappeared only on PET scan 5 months after HSCT. Monitoring the activity of multiple pre-existing lesions with PET scan may be beneficial to adolescent and young adult CGD-patients undergoing allogeneic HSCT.

PMID: 25367170 [PubMed – as supplied by publisher]

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Do Immunocompromised Children Benefit from Having Surgical Lung Biopsy Performed?

Acta Haematol. 2014 Oct 29;133(2):205-209

Authors: Goldstein G, Keller N, Bilik R, Bielorai B, Toren A

Abstract
Background: Surgical lung biopsy is considered a gold standard for the evaluation of pulmonary disease in immunocompromised children. However, in the literature, its accuracy and the rate of complications vary. Objective: We aimed to evaluate the yield of surgical lung biopsies in the management of persistent pulmonary findings in immunocompromised children. Methods: We performed a retrospective review of clinical records of immunocompromised children who underwent surgical lung biopsies, and evaluated the impact that preoperative factors had on outcomes. Results: Twenty-five patients underwent 27 surgical lung biopsies. The underlying immunodeficiency included allogeneic stem cell transplantation (n = 12), chemotherapy for solid tumors (n = 6), hematologic malignancy (n = 4), primary immunodeficiency (n = 4) and chronic steroid use (n = 1). Biopsies provided a specific histopathologic or microbiologic diagnosis in 10 cases (37%). No preoperative factor predicted a diagnostic biopsy. Five of the 27 biopsies were beneficial for the patients (18%). A major complication related to the procedure was reported for 1 biopsy (4%). Conclusions: We conclude that surgical lung biopsy in pediatric immunocompromised patients appears to be safe, but has a relatively low diagnostic yield and an even lower yield with regards to the benefit it provides. © 2014 S. Karger AG, Basel.

PMID: 25358357 [PubMed – as supplied by publisher]

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Related Articles

Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report.

Ital J Pediatr. 2014;40:2

Authors: Kepenekli E, Soysal A, Kuzdan C, Ermerak NO, Yüksel M, Bakır M

Abstract
Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an echinocandin, combination therapy, or further use of azoles. Posaconazole is a triazole derivative which is effective in Aspergillosis prophylaxis and treatment. Rarely, surgical therapy may be needed in some patients. Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.Chronic granulomatous disease (CGD) is an inherited immundeficiency caused by defects in the phagocyte nicotinamide adenine dinucleotidephosphate (NADPH) oxidase complex which is mainstay of killing microorganisms. CGD is characterized by recurrent life-threatening bacterial and fungal infections and by abnormally exuberant inflammatory responses leading to granuloma formation, such as granulomatous enteritis, genitourinary obstruction, and wound dehiscence. The diagnosis is made by neutrophil function testing and the genotyping.Herein, we present a case with CGD who had invasive pulmonary aspergillosis refractory to voriconazole and liposomal amphotericine B combination therapy that was controlled with posaconazole treatment and pulmonary surgery.

PMID: 24401677 [PubMed – indexed for MEDLINE]

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Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

J Clin Immunol. 2014 Oct 29;

Authors: Hartman HN, Niemela J, Hintermeyer MK, Garofalo M, Stoddard J, Verbsky JW, Rosenzweig SD, Routes JM

Abstract
Gain of function (GOF) mutation in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) is the cause of a primary immunodeficiency (PID) characterized by recurrent sinopulmonary infections and lymphoproliferation. We describe a family of two adults and three children with GOF mutation in PIK3CD, all with recurrent sinopulmonary infections and varied infectious and non-infectious complications. The two adults have Primary Sclerosing Cholangitis (PSC) without evidence of Cryptosporidium parvum infection and have required liver transplantation. PSC is a novel phenotype of GOF mutation in PIK3CD.

PMID: 25352054 [PubMed – as supplied by publisher]

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Hypogammaglobulinemia-associated gastrointestinal disease-A case series.

Indian J Gastroenterol. 2014 Oct 30;

Authors: Desai L, Kurien RT, Simon EG, Dutta AK, Joseph AJ, Chowdhury SD

Abstract
Hypogammaglobulinemia, a form of primary immunodeficiency, is an uncommon condition. Gastrointestinal (GI) symptoms may be the only presentation. A series of 22 patients who presented with GI symptoms and were diagnosed with hypogammaglobulinemia is presented. Chronic diarrhea was the presentation in majority (90.9 %) of patients. Malabsorption was identified in 87.5 % of patients followed by weight loss (59.0 %), abdominal pain (27.2 %), and oral ulcers (4.5 %). The median duration of symptoms prior to diagnosis was 4 years, range being 6 months to 23 years. Evaluation revealed opportunistic infections including Giardia lamblia in 31.8 % and Cryptosporidium parvum, Isospora belli, Cytomegalovirus and Aeromonas in 4.5 % each. Serum globulins were low in all patients. Duodenal biopsy showed paucity of plasma cells in 45 %, villous atrophy in 35 % and nodular lymphoid hyperplasia in 30 % patients. Though uncommon, hypogammaglobulinemia is associated with GI disease. The possibility of a primary immunodeficiency should be considered in patients presenting with GI symptoms and low serum globulin.

PMID: 25352181 [PubMed – as supplied by publisher]

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Laboratory clues to immunodeficiency; missed chances for early diagnosis?

J Clin Pathol. 2014 Oct 28;

Authors: Bright PD, Rooney N, Virgo PF, Lock RJ, Johnston SL, Unsworth DJ

Abstract
Primary immunodeficiency is seen in an estimated one in 1200 people, and secondary immunodeficiency is increasingly common, particularly with the use of immunosuppresion, cancer therapies and the newer biological therapies such as rituximab. Delays in the diagnosis of immunodeficiency predictably lead to preventable organ damage. Examples of abnormal pathology tests that suggest immunodeficiency from all laboratory specialities are given, where vigilant interpretation of abnormal results may prompt earlier diagnosis. If immunodeficiency is suspected, suggested directed testing could include measuring immunoglobulins, a lymphocyte count and T-cell and B-cell subsets.

PMID: 25352642 [PubMed – as supplied by publisher]

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