The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome

In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from >2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.     

Fibromyalgia: its prevalence in haemodialysis patients and its relationships with clinical and laboratory parameters.

OBJECTIVE: Our aim was to determine the prevalence of fibromyalgia syndrome (FS) in chronic haemodialysis (HD) patients and to identify possible links between FS and various clinical and laboratory parameters. METHODS: We studied 122 chronic HD patients and 89 healthy age- and sex-matched controls, classified according to the American College of Rheumatology (ACR) classification criteria for FS. Age, sex, causes of renal failure, length of time on dialysis and marital status were recorded, and questions were asked about symptoms related to FS. All subjects completed the Fibromyalgia Impact Questionnaire (FIQ). Laboratory data obtained in the preceding 6 months were re-evaluated. RESULTS: Nine (7.4%) of the 122 HD patients and four of the 89 control subjects (4.5%) fulfilled the ACR criteria for definite FS (P = 0.56). The mean ages of the subjects who had definite FS and those who did not were similar. Most of the subjects diagnosed with definite FS were female (11 out of 13). The HD patients had higher FIQ scores than the controls, regardless of FS diagnosis. Among the HD patients, those with definite FS had a significantly higher mean FIQ score than all the other HD patients combined. In the all HD patients group, fatigue, irritable bowel syndrome and personal histories of depression were correlated with FS, whereas duration of HD, aetiology of renal failure, laboratory parameters and hepatitis B or C virus infection were not. CONCLUSION: The prevalence of FS appeared to be similar in chronic HD patients and the general population; also, FS-related symptoms appear to be similar in HD patients and the general population who have FS. No laboratory parameter was correlated with frequency of FS.     

Deficient expression of leukocyte adhesion proteins. A new Tunisian case

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins. A family history of a boy who died from omphalitis and sepsis was reported. Our patient had the severe form, she had delayed umbilical cord separation and suffered recurrent infections. She had a deletion of the G at position 1497. The patient received bone marrow transplantation from her HLA-identical mother at age of 14 months. She is now 9 years old and in good health.     

Neurosyphilis: a rare cause of dementia

INTRODUCTION: Neurosyphilis had to be evoked in the face of an atypical dementia. CASE RECORD: We describe the case of a 65-year-old man who presented with neurosyphilis suspected to precede behavioral and cognitive problems in the context of risky sexual behavior and was confirmed by serologic tests in the cerebrospinal fluid. DISCUSSION: This case proves the necessity to investigate the possibility of neurosyphilis in subjects with dementia syndrome which does not correspond to classic etiologies.     

Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry

PROBLEM: Primary Immunodeficiency Disorders (PiD) are a heterogeneous group of genetic disorders, with different modes of inheritance. This study was accomplished in order to determine the frequency of consanguineous marriages in the families of patients with PiD. METHOD: In this study, the records 515 Iranian PiD patients were reviewed during a 25-year period. RESULTS: The mean proportion of consanguineous marriages was 65.6% among PiD patients, while the overall rate was 38.6% in the country. The rate of consanguinity was 77.8% in cellular immunodeficiencies, 75.8% in combined immunodeficiencies, 72.5% in defects of phagocytic function, 58.6% in other immunodefiiencies, 54.1% in predominantly antibody deficiencies, and 50% in complement deficiencies. Moreover all patients with immunodeficiency associated with other diseases had consanguineous parents. Such marriages were most common in the parents of patients with Chediak-Higashi syndrome, severe combined immunodeficiencies, primary CD4 deficiency, ataxia-telangiectasia, selective IgG class deficiencies, chronic granulomatous disease, and Schwachman syndrome. CONCLUSIONS: It is important to inform the general population about the dangers of consanguinity, which is very common in some areas such as Iran. Premarital examination to avoid genetic diseases could be suggested, especially in a community where the rate of consanguineous marriage is high.     

DNA damage and repair in atherosclerosis

There is increasing evidence that human atherosclerosis is associated with damage to the DNA of both circulating cells, and cells of the vessel wall. Reactive oxygen species are the most likely agents inducing DNA damage in atherosclerosis. DNA damage produces a variety of responses, including cell senescence, apoptosis and DNA repair. This review summarises the evidence for DNA damage in atherosclerosis, the cellular responses to damage and the mechanisms of signalling DNA damage.