A multi-centered study of Pneumocystis jirovecii colonization in patients with respiratory disorders: Is there a colonization trend in the elderly?

BACKGROUND AND PURPOSE: Pneumocystis jirovecii colonization plays a key role in the progression of pulmonary infection. However, there are limited data regarding the colonization of these fungi in the patients residing in different regions of Iran. Regarding this, the present study was conducted to evaluate the prevalence of P. jirovecii colonization in non-HIV-infected patients with respiratory failure introduced by physicians using nested polymerase chain reaction (PCR). MATERIALS AND METHODS: This study was conducted on 136 samples obtained from 136 patients with respiratory disorders referring to different hospitals in the capital and north of Iran during 2013-2015. The samples were collected using bronchoalveolar lavage (BAL; n=121) and sputum induction (n=15). Nested PCR method targeting mtLSU rRNA gene was used for the detection of P. jirovecii DNA in the specimens. RESULTS: The nested PCR analysis resulted in the detection of P. jirovecii DNA in 32 (23.5%) patients. The mean age of the participants was 49.04±11.94 years (age range: 14-90 years). The results revealed no correlation between Pneumocystis colonization and gender. The studied patients were divided into two groups of immunocompromised and immunocompetent patients. In the regard, 25.4% of the patients with detectable P. jirovecii DNA were immunocompromised and had cancer, organ transplantation, asthma, sarcoidosis, dermatomyositis, chronic obstructive pulmonary disease, bronchiectasis, and pulmonary vasculitis. On the other hand, Pneumocystis DNA was detected in 21.8% of the immunocompetent patients. Frequencies of P. jirovecii DNA detection in the patients with tuberculosis, hydatid cyst, and unknown underlying diseases were obtained as 20.8%, 25%, and 22%, respectively. The prevalence of Pneumocystis colonization varied based on age. In this regard, P. jirovecii colonization was more prevalent in patients aged above 70 years. CONCLUSION: As the findings indicated, non-HIV-infected patients, especially the elderly, had a high prevalence of P. jirovecii colonization. Therefore, these patients are probably a potential source of infection for others. Regarding this, it is of paramount importance to adopt monitoring and prophylactic measures to reduce this infection.

Chaos to randomness: distinguishing between healthy and non-healthy lung sound behaviour.

Lung abnormalities and respiratory diseases increase as side effects of urban life and development. Therefore, understanding lung dynamics and its changes during the presence of abnormalities are critical in order to design more reliable tools for the early diagnosis and screening of lung pathology. The goal of this paper is to indicate the chaotic nature of normal lung sound and its transition to randomness in the presence of lung disease. The latter characteristic could serve as an indicator for evaluating the recovery process for patients suffering from lung disease. To verify this idea, we compared group of healthy and non-healthy subjects and also group of non-healthy subjects before and after treatments. Chaotic and randomness indices applied to lung sound signals which captured by multichannel data acquisition system. Results show that the normal lung displays chaotic dynamics. However, with the increase in lung abnormality, moves toward more random behaviour and away from its original chaotic state. Also, chaotic and randomness indices indicate their abilities to classify healthy and non-healthy lung sounds.

A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.

Progressive familial intrahepatic cholestasis is an autosomal recessive liver disorder caused by (biallelic) mutations in the ATP8B1 of ABCB11 gene. A nine-year-old girl with cholestasis was referred for genetic counseling. She had a family history of cholestasis in two previous expired siblings. Genetic analysis of the ABCB11 gene led to the identification of a novel homozygous mutation in exon 25. The mutation 3593- A > G lead to a missense mutation at the amino acid level (His1198Arg). This mutation caused PFIC2 due to abnormal function in the bile salt export pump protein (BSEP).

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.

BACKGROUND: Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessive, syndromic disorders also involve PKD but have a range of pleiotropic phenotypes beyond the kidney, and are enriched in consanguineous families. CASE PRESENTATION: We describe here a consanguineous Iranian pedigree in which PKD was diagnosed in four generations, but also included cases with additional abnormalities, including mental retardation. We employed molecular screening to reveal the etiology of the PKD. Since the PKD seemed to be dominantly inherited, molecular diagnostics was performed by direct sequencing of the ADPKD genes, PKD1 and PKD2. Clinical and imaging data was collected on family members. The sequence analysis revealed a PKD2 single base-pair deletion, c.1142delG, and segregation was demonstrated in 16 PKD patients from different branches of the family. In keeping with other reports, the PKD2 phenotype in this family was overall mild, and characterized by conserved kidney function, although 12 cases had some evidence of renal insufficiency. Several younger mutation carriers had borderline or no clinical characteristics of ADPKD, while a patient that required a renal transplant at 14 y did not have the PKD2 mutation. CONCLUSIONS: The molecular analysis of an Iranian family showed that the PKD was due to a PKD2 mutation. The identification of the causative mutation allowed an accurate diagnosis in a number of individuals with equivocal imaging data. Consequently, these patients could be followed appropriately as at-risk individuals. In addition, the PKD2 diagnosis ruled out a syndromic form of PKD as the cause of the additional phenotypes in the family.

Assessment of clinical impact in the application of Chang attenuation correction to lung ventilation/perfusion SPECT.

UNLABELLED: The presence of a highly nonuniform distribution of attenuating tissues in the thorax may lead to attenuation artifacts and inaccuracies in reconstructed lung ventilation/perfusion SPECT images. The Chang algorithm is an easily applicable and accessible method of attenuation correction. The advantages inherent in the technique prompted us to evaluate the effect of using Chang attenuation correction on the quality of lung SPECT images and the clinical impact on interpretation. METHODS: Lung scintigraphy started with planar and SPECT ventilation scans using (81m)Kr. A few minutes after the ventilation scintigraphy, planar and SPECT perfusion studies using (99m)Tc-macroaggregated albumin were performed. The Chang algorithm was applied for attenuation correction. Afterward, standard SPECT processing was performed on the images, leading to images in the horizontal, coronal, and sagittal planes. The same studies were also processed to the same planes without application of attenuation correction. Finally, all scintigraphic images were reviewed by 2 nuclear medicine academic clinicians, and a final diagnosis was reached by consensus, categorizing the studies into 3 groups-normal, low/intermediate, and high probability-for pulmonary embolism. RESULTS: The study included 45 patients (16 men and 29 women) with a mean age of 50.0 y. Between the 2 noncorrected and attenuation-corrected readings, 16 diagnoses remained the same. However, after attenuation correction, 13 patients were moved to lower categories (i.e., from high probability to normal or low/intermediate probability or from low/intermediate probability to normal) and 16 patients were moved to higher categories (i.e., from low/intermediate probability to high probability or from normal to low/intermediate or high probability). The difference between noncorrected and attenuation-corrected readings was statistically significant (P < 0.01). CONCLUSION: After attenuation correction, subjective image quality and sharpness improved, leading in some cases to increased confidence on the part of the readers. The Chang attenuation correction method may have the potential to be considered as an alternative approach toward attenuation correction in those situations in which the additional radiation burden of CT is not acceptable.

A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study.

The authors describe a large Iranian family with autosomal dominant cerebellar ataxia, which included 14 patients in four generations. We examined seven patients who had expanded CAG repeats in the CACNA1A gene with repeat instability (24 and 25 repeats). Although all patients showed cerebellar ataxia, each patient exhibited peripheral neuropathy or spasticity indicating intrafamilial phenotypic variability.