DiGeorge Syndrome

DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings

Oxidant and Antioxidant Balance in Patients with Childhood Non-Cystic Fibrosis-Related Bronchiectasis

Objective: To evaluate the role of the oxidant and antioxidant balance in the pathogenesis and prognosis of non-cystic fibrosis bronchiectasis (non-CF BE) in children. Materials and Methods: Twenty-nine children with non-CF BE were enrolled between June 2009 and October 2010. Thirty healthy children were enrolled as controls. Paraoxonase 1 (PON1), total oxidant status (TOS), and total antioxidant status (TAS) serum levels were measured in controls and in patients when stable and at acute exacerbation. Results: PON1 and TAS levels were lower in patients at acute exacerbation than in controls (P=0.05 and P=0.01, respectively). TOS levels indicative of oxidative stress were higher, and TAS/TOS levels were lower, in immune-deficient patients than control group (P=0.008 and P=0.01, respectively). TAS levels and PON1/TOS ratio were significantly lower in patients with moderate-severe bronchiectasis than in patients with mild bronchiectasis (P=0.043 and P=0.03, respectively). Conclusion: Oxidative stress was increased and antioxidant capacity decreased in patients with non-CF BE during the exacerbation period. Antioxidant treatment in patients with non-CF BE, especially in patients with immunodeficiency and/or with moderate-severe bronchiectasis, could be helpful to reduce the frequency and severity of the attacks by reducing oxidative stress-induced damage, ultimately contributing to a better prognosis

Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome

The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant predisposition to lymphoid malignancy. The gene mutated in NBS, NBS1, has been mapped to the 8q21 chromosome. The product of this gene is a protein with a molecular weight of 95 kDa named nibrin. One of the common features of NBS is dysregulation of both cellular and humoral arms of the immune system, resulting in recurrent bacterial and viral infections, mainly of the respiratory tract. NBS is a rare syndrome. It should be considered that NBS may be associated with immunodeficienc

Diffuse Large B cell Lymphoma with Primary Spleen Involvement: Report of Three Cases

The spleen is the primary organ of lymphoma in only 12 % of all lymphoma patients. We presented three cases of primary splenic involvement of lymphoma that were treated. Presentation of cases: In the first case, four solid lesions were detected, and in the second case, a hypodense lesion of 3 cm was detected in the spleen. Two cases underwent splenectomy. No complication and recurrence were observed during 22 - 21 months follow-up, respectively. In the third case, a splenic mass invading pancreas was detected. Splenectomy and distal pancreatectomy were performed. No recurrence was observed during 8-year follow-up. In postoperative period, all cases were treated with cyclophosphamide, vincristine, doxorubicin, prednisone plus rituximab for 6 cycles. Primary splenic lymphoma refers to the involvement of the spleen only or with splenic hilar lymph node or local invasion without liver involvement. The pathologic diagnosis was diffuse large B-cell non-Hodgkins lymphoma in the all cases. Splenic mass biopsy has some complication risks. Aspiration biopsy of splenic mass was performed in one of the three cases. Invasions should be evaluated in terms of malignity during splenectomy, and liver biopsy and biopsies of lymph nodes can be performed in case of lymphoma. Additionally diagnosis should be confirmed via post-operative bone marrow biopsy and positron emission tomography screening. Primary splenic involved lymphoma must be kept in mind for differential diagnosis in cases with splenic mass. Splenectomy is one of the most common modality for primary splenic lymphomas in terms of both diagnostic and curative treatment. [Med-Science 2014; 3(4.000): 1675-84

Misdiagnosis of Asthma May Delay the Post Infectious Bronchiolitis Obliterans Diagnosis

European Respiratory So