A Rare Case of Pulmonary Hypertension, Misdiagnosed as Interstitial Lung Disease: Pulmonary Capillary Hemangiomatosis.

Pulmonary capillary hemangiomatosis (PCH) is a rare cause of pulmonary hypertension. We reported a histologically confirmed PCH in a 42-yr-old lady. She presented a progressive dyspnea and cough after an upper respiratory tract infection.

Prevalence of Obstructive Sleep Apnea in a High-Risk Population Using the Stop-Bang Questionnaire in Tehran, Iran.

Background: Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder. Despite its significant morbidities and mortality, the majority of patients with OSA remain undiagnosed. The epidemiology of OSA is well studied in Western countries, while there is scarce information on its epidemiology in other countries.

Eighty Kilograms Weight Reduction in a Case of Obstructive Sleep Apnea with Several Comorbidities: Did the Conditions Improve?

Obstructive sleep apnea (OSA) together with metabolic disorders is common in severely obese patients. Weight reduction is considered as a treatment modality in these cases while few of them can succeed in considerable weight loss. Here, we present a severely obese man with body mass index of 54 suffered from OSA, type 2 diabetes, hypothyroidism, and hypertension.

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection.

Sleep-disordered breathing as presenting manifestation of Chiari type I malformation: a case report.

Chiari Type I malformation (CM-I) is a rare disorder with displaced cerebellar tonsils through foramen magnum. Here we present a 30-year-old man with severe central and obstructive sleep apneas as presenting manifestations of CM-I. The patient underwent neurosurgery and the follow-up polysomnography revealed the resolution of central apnea while obstructive apnea remained unchanged.

Evaluation of bronchoscopy complications in a tertiary health care center.

Background: Bronchoscopy is a technique of visualizing the inside of the airways for diagnostic and therapeutic purposes. This study was performed to determine the complications of bronchoscopy in a tertiary health-care center.

Materials And Methods: This study had as descriptive cross sectional design.

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation.

Evaluation of maximum O2 consumption: using ergo-spirometry in severe heart failure.

Although sport-physiologists have repeatedly analyzed respiratory gases through exercise, it is relatively new in the cardiovascular field and is obviously more acceptable than standard exercise test, which gives only information about the existence or absence of cardiovascular diseases (CVDs). Through the new method of exercise test, parameters including aerobic and anaerobic are checked and monitored. 22 severe cases of heart failure, who were candidates of heart transplantation, referring to Massih Daneshvari Hospital in Tehran from Nov.

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.

ISG15 is an interferon (IFN)-α/β-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with inherited ISG15 deficiency and mycobacterial, but not viral, diseases.

Disseminated Mycobacterium kansasii in an HIV-negative patient.

Disseminated Mycobacterium kansasii infection is a rare infection in non-HIV patients. This research has uncovered a very rare manifestation of disseminated M. kansasii infection in a non-HIV patient with lung and pericardial involvement.

Predicted values of cardiopulmonary exercise testing in healthy individuals (a pilot study).

Background: Cardiopulmonary exercise testing evaluates the ability of one's cardiovascular and respiratory system in maximal exercise. This was a descriptive cross-sectional pilot study conducted at Masih Daneshvari Hospital in order to determine predicted values of cardiopulmonary exercise testing in individuals with normal physical activity patterns.

Materials And Methods: Thirty four individuals (14 women, 20 men) between 18-57 years of age were chosen using simple sampling method and evaluated with an incremental progressive cycle-ergometer test to a symptom-limited maximal tolerable work load.

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.

A 33-year-old man was admitted in hospital due to fever, generalized lymphadenopathy, and hepatosplenomegaly. He had a history of anti-tuberculosis treatment in the previous 3 years. Despite normal chest radiograph, a sputum sample was smear-positive for acid-fast bacilli, and polymerase chain reaction was positive for Mycobacterium tuberculosis complex.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.

Primary immune deficiencies presenting in adults: seven years of experience from Iran.

Primary immunodeficiencies (PIDs) are not solely diseases of childhood. We describe the clinical presentation and outcome for 55 adult patients with previously unrecognized PIDs. This series provides unique data regarding PIDs presenting in adulthood, and serves as a timely reminder that physicians must consider the diagnosis of PIDs in their adult patients.

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

Disseminated BCG infection is a rare complication of vaccination that occurs in patients with impaired immunity. In recent years, a series of inherited disorders of the IL-12-IFN-gamma axis have been described that predispose affected individuals to disseminated disease caused by BCG, environmental Mycobacteria, and non-typhoidal Salmonella. The routine immunological work-up of these patients is normal and the diagnosis requires specific investigation of the IL-12-IFN-gamma circuit.

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNgammaR2 chain. The resulting additional carbohydrate moiety was both necessary and sufficient to abolish the cellular response to IFNgamma.