Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI & #42;M S-Napoli
We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum alpha-1-antitrypsin (AAT) level, in the absence of the most common defective alleles associated with AAT deficiency (PI*S and PI*Z) but with a new mutation in heterozygosis. This mutation is characterized by the substitution in the coding region of exon 3, of a guanine (G) for a thymine (T), generating the replacement of a glutamine (Gln) by a histidine (His) in codon 212 (cod 212 GlnCAG > HisCAT), corresponds to a new S allelic variant. This mutation, never identified befor...
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Marco Mosella Mariasofia Accardo Antonio Molino Mauro Maniscalco Alessandro Sanduzzi Zamparelli Source Type: research
Deciphering a case of pulmonary hypertension in a young female: Partial anomalous pulmonary venous drainage the culprit
Hiten R Patel, Suchit Bhutani, Fayez Shamoon, Hartaj VirkAnnals of Thoracic Medicine 2018 13(1):55-58Partial anomalous pulmonary venous drainage (PAPVD) is a rare congenital cardiac defect and is associated with sinus venosus atrial septal defect. While most cases are asymptomatic, a patient can present with pulmonary hypertension (PHTN) and it can be difficult to diagnose. Here, we discuss the case of a young female with PHTN who was found to have two right-sided PAPVD. Through this case, authors try to emphasize the importance of meticulous and thorough investigation when evaluating PHTN, which allows for correct diagnos...
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Hiten R Patel Suchit Bhutani Fayez Shamoon Hartaj Virk Source Type: research
The effects of diurnal intermittent fasting on the wake-promoting neurotransmitter orexin-A
CONCLUSIONS: DIF increases orexin-A levels in the plasma during fasting hours. This finding supports findings from animal studies showing that fasting increases alertness. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Aljohara S Almeneessier Mohammed Alzoghaibi Abdulrahman A BaHammam Mahmoud G Ibrahim Awad H Olaish Samar Z Nashwan Ahmed S BaHammam Source Type: research
Comparison of positional and rapid eye movement-dependent sleep apnea syndromes
CONCLUSION: Positional OSAS is a clinical entity that is more common than REM-dependent OSAS. OSAS severity is higher in positional OSAS than REM-dependent OSAS. REM-dependent OSAS is observed more commonly in women. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Fatih Uzer Asli Bostanci Toptas Ummuhan Okur Selen Bozkurt Ebru Dogrul Murat Turhan Aykut Cilli Source Type: research
Admission predictability of children with acute asthma
CONCLUSIONS: Decision of admission could be made to many children with moderate-to-severe acute asthma at the 2nd h of ED stay based on their total PAS. OS and RR should be part of any scoring system to evaluate acute asthma in children. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Maan Alherbish Khalid F Mobaireek Abdullah A Alangari Source Type: research
Primary pulmonary lymphoepithelioma-like carcinoma in Singapore
CONCLUSION: The majority (46.4%) of patients presented with metastatic disease. For those with Stage I-III disease, 5-year survival for PPLELC was better than other NSCLC subtypes. Multimodality treatment including surgery could be considered in locally advanced disease. In Stage IV disease, it tended to approximate that of NSCLC. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Chee Kiang Tay Yang Chong Chua Angela Takano Madeline Yen Min Chee Wan-Teck Lim Cindy Lim Mariko Siyue Koh Source Type: research
Graphic warnings and text warning labels on cigarette packages in Riyadh Kingdom of Saudi Arabia: Awareness and perceptions
CONCLUSIONS: The study suggests that while graphic warning labels are perceived as necessary on cigarette packages the currently used messages are not clear and therefore do not serve their intended purposes. Measures should be undertaken to ensure that pictorial cigarette labels used in Saudi Arabia are culturally and ethnically appropriate and are rotated on a regular basis to ensure salience among smokers and nonsmokers alike. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Hoda Jradi Basema Saddik Source Type: research
Cardio-autonomic functions and sleep indices before and after coronary artery bypass surgery
CONCLUSION: Our study revealed that recovery of autonomic functions following CABG occurs as early as 30 days of postsurgery. CABG does not seem to have short-term effects on sleep study indices. However, long-term effects need further evaluation. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Khamis Mohammed Al-Hashmi Mohammed A Al-Abri Deepali S Jaju Mirdavron Mukaddirov Abdulnasir Hossen Mohammed O Hassan Mostafa Mesbah Hilal Ali Al-Sabti Source Type: research
An underestimated cause of chronic cough: The protracted bacterial bronchitis
Paola Di Filippo, Alessandra Scaparrotta, Marianna Immacolata Petrosino, Marina Attanasi, Sabrina Di Pillo, Francesco Chiarelli, Angelika MohnAnnals of Thoracic Medicine 2018 13(1):7-13Chronic cough in childhood is associated with a high morbidity and decreased quality of life. Protracted bacterial bronchitis (PBB) seems to be the second most common cause of chronic cough in children under 6 years of age. Its main clinical feature is represented by wet cough that worsens when changing posture and improves after the introduction of antibiotics. Currently, the mainstay of PBB treatment is a 2-week therapy with a high dose of...
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Paola Di Filippo Alessandra Scaparrotta Marianna Immacolata Petrosino Marina Attanasi Sabrina Di Pillo Francesco Chiarelli Angelika Mohn Source Type: research
Chronic obstructive pulmonary disease: More than meets the eye
Umur HatipogluAnnals of Thoracic Medicine 2018 13(1):1-6Chronic obstructive pulmonary disease (COPD) is a major health problem which had not received the attention commensurate with the magnitude of its global burden. This is finally changing with the help of a vibrant community of health-care professionals, public officials, and academic researchers. Advances in characterization of the disease, treatment options, imaging modalities, and better understanding of the comorbidities promise to revolutionize how the disease is managed. COPD should no longer augur despair among physicians and patients. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - January 4, 2018 Category: Respiratory Medicine Authors: Umur Hatipoglu Source Type: research
Rituximab treatment in patients with systemic sclerosis and interstitial lung disease
Abdel Gaffar A Mohammed, Ammar Alshihre, Ibrahim Abdulrazag Al-HomoodAnnals of Thoracic Medicine 2017 12(4):294-297There is increasing interest in rituximab (RTX) as an alternative to cyclophosphamide for the treatment of interstitial lung diseases (ILDs) associated with systemic sclerosis (SSc). However, no report has addressed its efficacy in Saudi patients with SSc-ILD. To assess the efficacy of RTX treatment in Saudi patients with SSc-ILD, hospital records were reviewed between 2013 and 2016. Four female patients received at least 4 cycles of RTX (I cycle, consisting of two infusions of 1000 mg 2 weeks apart). Pulmonar...
Source: Annals of Thoracic Medicine - October 10, 2017 Category: Respiratory Medicine Authors: Abdel Gaffar A Mohammed Ammar Alshihre Ibrahim Abdulrazag Al-Homood Source Type: research
A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
We report the case of a 19-year-old male patient of Palestinian descent, who presented with a 1-year history of recurrent Pseudomonas aeruginosa respiratory infections, weight loss, chronic diarrhea, and a normal chloride sweat test. A panel for common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations test was also negative. Cystic fibrosis (CF) was still clinically suspected thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported mutation c.2490insT (GenBank accession number: BankIt2019289 seq1 MF167456). Both parents were also found to be heterozygous for this mutatio...
Source: Annals of Thoracic Medicine - October 10, 2017 Category: Respiratory Medicine Authors: Hassan Chami Samer Abou Arbid Rebecca Badra Chantal Farra Source Type: research
Thromboprophylaxis and mortality among patients who developed venous thromboembolism in seven major hospitals in Saudi Arabia
Conclusion: Thromboprophylaxis was underutilized in major Saudi hospitals denoting a gap between guideline and practice. This gap was more marked in medical than surgical patients. Hospital-acquired VTE was associated with significant mortality. Efforts to improve thromboprophylaxis utilization are warranted. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - October 10, 2017 Category: Respiratory Medicine Authors: Fahad M Al-Hameed Hasan M Al-Dorzi Abdulelah I Qadhi Amira Shaker Farjah H Al-Gahtani Fawzi F Al-Jassir Galila F Zahir Tarig S Al-Khuwaitir Mohammed H Addar Mohamed S Al-Hajjaj Mohamed A Abdelaal Essam Y Aboelnazar Source Type: research
Lung granuloma: A clinicopathologic study of 158 cases
Conclusions: Mycobacterial TB and sarcoidosis are the most common causes of lung granulomas in our region. In a substantial proportion of cases, the cause may not be identified despite an extensive workup. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - October 10, 2017 Category: Respiratory Medicine Authors: Abdullah Al-Harbi Salman Al-Otaibi Abdelmonim Abdulrahman Fares Al-Jahdali Fahad Al-Harbi Hana Bamefleh Majed Gamdi Hamdan Al-Jahdali Source Type: research
Coronary flow reserve is impaired in patients with obstructive sleep apnea
Conclusions: The findings of this study indicate that CFR, an indicator of coronary microvascular function, is significantly impaired in patients with OSA. Coronary microvascular function, an early sign of atherosclerosis, can be evaluated noninvasively in these patients might be used as a predictor of cardiovascular risk. (Source: Annals of Thoracic Medicine)
Source: Annals of Thoracic Medicine - October 10, 2017 Category: Respiratory Medicine Authors: Serife Savas Bozbas Serpil Eroglu Berna Akinci Ozyurek Fusun Oner Eyuboglu Source Type: research
