Pulmonary manifestations of chronic granulomatous disease.

Chronic granulomatous disease (CGD) is an inherited disorder, characterized by defects in superoxide-generating NADPH oxidase of phagocytes. The genetic defects in CGD induce failure to activate the respiratory burst in the phagocytes, leading to severe recurrent infections and unexplained prolonged inflammatory reactions that may produce granulomatous lesions. A noble advance in curative therapy for CGD is hematopoietic stem cell transplantation. Since the most common site of involvement in CGD is the lung, the pulmonologists (pediatrics or adult) may be among the first to recognize the pattern of infection, inflammation and granuloma formation, leading to diagnosis of CGD. Pulmonologists need to be aware of different lung manifestations of CGD.

Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease.

BACKGROUND: Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran. METHODS: Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families. RESULTS: Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p = 0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p < 0.0001 for both). Among AR-CGD patients, p47phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations. CONCLUSIONS: Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.

Clinical and Demographic Characteristics of Confirmed Cases in H1N1 (2009) Influenza.

BACKGROUND: Presentation of pandemic H1N1 influenza (H1N1) is widely evolving as it continues to involve different geographic locations and populations. This study was conducted to improve the precision of clinical diagnosis of H1N1 (2009) influenza infection in an outpatient setting. MATERIALS AND METHODS: A prospective cross-sectional study was conducted among adult patients (age >15 years) with influenza-like illnesses (ILI) from November 2009 to February 2010. Clinical, laboratory and epidemiological findings in the first week of illness were collected using a standardized datasheet. Influenza testing was performed by real-time reverse-transcriptase polymerase chain reaction (rRT-PCR). RESULTS: Thirty nine (24%) patients were positive for H1N1 and 123 (76%) were negative for any subtype of influenza A virus. Whilst otalgia (14% vs. 0 p= 0.01) was more prevalent in non-influenza A cases, cough (90% vs. 72% p = 0.03) and shortness of breath (67% vs. 47% p = 0.02) were more often associated with H1N1-infection. Comparative analysis of co-existing conditions and demographic factors of patients revealed no other significant differences between the two groups. CONCLUSION: The clinical presentation of H1N1 (2009) infection is largely indistinguishable from other acute respiratory diseases. Although previous studies suggested significant differences in demographic and co-existing conditions of H1N1 infected patients, our study shows that as the pandemic spreads worldwide and affects the majority of the population, H1N1 diagnosis based on clinical presentation and demographic characteristics has become less practical and much more difficult in tertiary care centers.

Melioidosis: It is not Far from here.

In the modern world, with developed traveling facilities, tourism is an important factor in emerging new infectious diseases in non-endemic areas. Therefore, the epidemiology of infections is a considerable issue for physicians and should be taken into account. We report a case of melioidosis in a 69-year-old Iranian man during his trip to Southeast Asia. On admission, he was febrile with tachycardia and tachypnea and had diabetes mellitus and hypertension since eleven years ago. Bronchoscopy and bronchoalveolar lavage (BAL) were performed. Blood and BAL cultures revealed heavy growth of Burkholderia pseudomallei. According to the aforementioned culture results, the patient was treated with meropenem and TMP-SMX, while other antibiotics were discontinued. After 3 weeks, the patient was discharged with stable status and normal pulmonary function; and eradication therapy with TMP-SMX continued for about 3 months. The control lung CT scan after one month demonstrated significant improvement.

A long delay from the first symptom to definite diagnosis of pulmonary tuberculosis.

BACKGROUND: Despite the recent advances in medicine, still many people suffer from long-standing tuberculosis. Delay in the diagnosis may result in further mortality and morbidity. Because of the importance of delay in the diagnosis, we decided to study and evaluate the patient delay and physician delay. METHODS: A descriptive analytical study was done on 97 patients referred to the National Research Institute of Tuberculosis and Lung Disease in Tehran from September 2002 through March 2003. Those individuals who fulfilled the inclusion criteria underwent a face to face interview. The questionnaires were filled out. The interval between the first appearance of the clinical manifestation and the first visit to the physician was calculated (patient delay). Also, the period between the patient's first visit to the physician and the final diagnosis was worked out. RESULTS: The mean patient delay time was 15 +/- 13 days with a median of 13 days. The mean physician delay time was 93 +/- 72 days with a median of 75 days. The mean total delay time was 108 +/- 71 days with a median of 96 days. CONCLUSION: The patient delay in our country is at an acceptable level compared with other countries, but our physician delay time has not been shortened during the last eight years. Improving and upgrading the mycobacteriological courses for general physicians and specialists during their academic years should be accompanied by short-term teaching courses after the graduation.

Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.

The South eastern region of Iran is an endemic area for salmonellosis. Sometimes bacteremia due to nontyphoidal salmonella occurs but certain patients are at increased risk for recurrent bacteremia. The risk of invasive salmonellosis and recurrent bacteremia is increased in the patients with immunosuppression, especially impaired cell-mediated immunity, lymphoproliferative diseases and in patients with IL-12 deficiency. In recent years, a series of inherited disorders of IL-12-IFN-gamma axis have been described that predispose affected individuals to disseminated disease caused by environmental mycobacteria and non-typhoidal salmonella. We report here the first such patient originating from and living in Iran. The patient was a 26-year-old man, suffering from IL-12p40 deficiency and presented with recurrent episodes of systemic salmonellosis. This report indicates that there are patients with inherited defects of the IL-12-IFN-gamma circuit in Iran. We recommended to consider this group of disorders in all patients with recurrent non-typhoidal salmonella bacteremia, wherever they are found.