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An abstract of the article "Lung Transplantation Triggered "Jackhammer Esophagus": A Case Report" by M.Q. Khan and others is presented.

Background: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles., Objective: Determine the pattern of CFTR variants in the CF population of Saudi Arabia., Design: A retrospective, descriptive., Setting: Tertiary care center., Patients and Methods: We examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017., Main Outcome Measures: Zygosity, morbidity and mortality patterns of different types of CFTR variants., Sample Size: 312 families that included 396 patients., Results: Of 48 variants identified, 6 were novel, having not been described in the medical literature. A homozygous state was found in 283 families (90.7%) and compound heterozygosity in 23 (7.4%). Six families were heterozygous (1.9%). Median age (interquartile range) was 10.2 months (4.4 months to 5.7 years) at diagnosis and 9.7 (5.4-16.5) years at follow up. Of 396 patients, 378 patients (95.5%) survived and 18 (4.5%) died. The ten most common variants identified in descending frequency were: p.Gly473GlufsX54 in 98 alleles (16%), p.Ile1234Val in 66 alleles (11%), F508del in 64 alleles (11%), 711+1G>T in 62 alleles (10%), 3120+1G>A in 62 alleles (11%), p.His139Leuin 38 alleles (6.4%), p.Gln637Hisfs in 30 alleles (5.2%), p.Ser549Arg in 27 alleles (4.5%), p.Asn1303Lys in 14 alleles (2.3%), delExon19-21in 10 alleles (1.6%). This analysis identified 79.2% of our CFTR variants., Conclusion: CFTR mutational patterns in our CF population are characterized by a high allelic heterogeneity. The high prevalence of homozygous variants reflects the high level of consanguinity between parents., Limitations: Our CFTR screening reflected only about 80% of CF patients in Saudi Arabia., Conflict of Interest: None.

Background: Lung transplantation has become a standard of care for a select group of patients with advanced lung diseases. Lung transplantation has undergone rapid growth in the last few years in Saudi Arabia., Objective: Describe five years of experience with lung transplantation., Design: Retrospective, descriptive., Settings: Major tertiary care hospital., Patients: All patients who underwent lung transplant surgery between 2010 to 2015., Main Outcome Measures: Indications for lung transplant demographics, body mass index, blood group, type of transplant surgery, morbidity rate using the Clavien-Dindo classification, rate of early- and late-onset bronchiolitis obliterans syndrome (BOS), bronchiolitis obliterans-free survival, 30- and 90-day mortality rate, and survival (30 days, 90 days, 1-year, 3-years and 5-years) for lung transplant recipients. The duration of mechanical ventilation, colonization by bacteria and need for lung volume reduction surgery for lung donors., Sample Size: 80, 45% women and 55% men., Results: The most common indication for lung transplant in Saudi Arabia is pulmonary fibrosis (45%), followed by non-cystic fibrosis bronchiectasis (25%) and cystic fibrosis-related bronchiectasis (20%). Only 45% of our lung transplant recipients had a normal BMI (18-28 kg/m 2 ). The most frequent blood group was A (40%), followed by blood group O (32.5%). Most (85%) lung transplants were bilateral while 15% were single lung transplants. Postoperative complications developed in 64 patients, 34 (42.5%) had minor grade 1 complications, while 13 (16.5%) had severe complications leading to death (grade V). Early onset BOS developed in 6 (7.5%) patients while 16 (20%) had late onset BOS. The BOS-free survival rate was 72.5%. The mean duration of mechanical ventilation in lung donors was 9 days and most were infected by bacteria. The majority of recipients required lung volume reduction. The 30-day mortality rate was 12.5% and the 90-day mortality rate was 17.5%. Survival rates at our center were 87.5% at 30 days, 82.5% at 90 days, 81.2% at 1 year, 67.9% at 2 years and 62.1% at 5 years., Conclusions: Lung transplantation has become an invaluable approach for the treatment of end-stage respiratory disease. Our 5-year experience has shown exciting promises for lung transplantation in Saudi Arabia., Limitations: Retrospective design, single center experience., Conflict of Interest: None.

Solid organ transplantation (SOT) following haematopoietic cell transplantation (HCT) is a rare event. Uncertainty exists whether such recipients are at higher risk of relapse of underlying haematological disease or at increased risk of developing infectious or immunological complications and malignancies following SOT. The experience at our referral organ transplantation center and the present literature of SOT (n = 198) in recipients following previous HCT was systematically reviewed. Outcome analysis of 206 SOT recipients following HCT challenges the validity of the frequently stated comparable outcome with recipients without prior HCT. SOT recipients after HCT are younger and have a higher mortality and morbidity in comparison with "standard" recipients. Rejection rates for SOT recipients following HCT appear to be lower for all organs, except for liver transplantation. In the setting of liver transplantation following HCT, mortality for recipients of deceased donor grafts appears to be exceptionally high, although experience with grafts of living donors are favourable. Morbidity was mostly associated with infectious and malignant complications. Of note some SOT recipients who received solid organ donation from the same HCT donor were able to achieve successful withdrawal of immune suppression. Despite limited follow-up, recipients with prior HCT show a different course after SOT, necessitating attention and closer follow-up.

Simultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality. Therefore, rapid detection of biomarkers specific for these three disorders in newborns offers new opportunities for early diagnosis, delaying symptoms and effective treatment. Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins. The CNF-modified array electrodes were first functionalized by electroreduction of carboxyphenyl diazonium salt. Then, the immunosensor was fabricated by the covalent immobilization of the three antibodies on the working electrodes of the array sensor via carbodiimide (EDC/NHS) chemistry. Simultaneous detection of CFTR, DMD and SMN1 was achieved with high sensitivity and detection limits of 0.9 pg/ml, 0.7 pg/ml and 0.74 pg/ml, respectively. The multiplexed immunosensor has also shown strong selectivity against non-specific proteins. Moreover, high recovery percentage was obtained when the immunosensor was applied in spiked whole blood samples. This voltammetric immunosensor offers cost effective, easy to use, rapid and high throughput potential screening method for these three hereditary disorders using only few drops of blood., (Copyright © 2018 Elsevier B.V. All rights reserved.)

In the present report, we describe a case wherein a Mycobacterium tuberculosis infection developed in the recipient after successful bilateral lung transplantation because of a solitary pulmonary nodule in the donor., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

A 19-years-old girl was referred for lung transplant due to end stage lung disease secondary to idiopathic bilateral bronchiectasis. Her routine pre lung transplant evaluation showed normal esophageal high-resolution manometry (HRM) and 24-hours impedance pH monitoring. Four weeks after the bilateral sequential lung transplantation (LTx), she developed dysphagia, chest pain and regurgitation, complicated by aspiration pneumonia. Repeated HRM showed Jackhammer esophagus, delayed gastric emptying and abnormal 24-hour pH impedance monitoring consistent with the diagnosis of gastroesophageal reflux disease. Twelve weeks after LTx, she was symptom free, HRM and 24-hour impedance pH monitoring returned to normal. To the best of our knowledge, this rare transient esophageal hypercontractility episode occurred after LTx and recovered without any specific treatment was never reported in literature. The etiopathogenesis of Jackhammer esophagus in general and LTx induced dysmotility in particular is discussed and reviewed.

Objective: To study the risk factors for bacteremia caused by Escherichia coli (E. coli) or Klebsiella pneumoniae (K. pneumoniae) producing extended-spectrum beta-lactamase (ESBL) and their outcome., Methods: A case-control study was conducted in King Abdul-Aziz National Guard Hospital, Al-Ahsa, Kingdom of Saudi Arabia from January 2006 through December 2007. All adult patients for whom culture results were positive for E. coli or K. pneumoniae were eligible. Twenty-nine patients with ESBL producing bacteremia (cases) were compared with 80 patients with non-ESBL producing bacteremia controls. Hospital mortality was the primary end point. Univariable and multivariable logistic regression were performed to analyze risk factors for ESBL bacteremia and its 30-day mortality., Results: A total of 109 patients with bacteremia were enrolled that included 29 cases and 80 controls. Forty-nine percent of the patients were male. The mean age was 60.2+/-21.1 years. Nosocomial infection was the only independent risk factor for bacteremia due to ESBL-producing pathogens (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.14-8.44, p=0.02). Overall 30-day mortality was 22%, and was similar in both groups. The nosocomial infection (OR 3.20, 95% CI 1.48-6.94, p=0.01), presentation with septic shock (OR 48.88, 95% CI 6.01-397.32, p=0.004), and intensive care unit care (OR 7.40, 95% CI 1.94 -28.34, p=0.001) were the independent risk factors for 30-day mortality., Conclusion: The ESBL rate is high in our study among the bacteremic patients. Nosocomial infection is identified both as a risk factor for ESBL bacteremia and mortality.

Idiopathic bronchiolitis obliterans with organizing pneumonia (BOOP) is a clinicopathologic syndrome characterized by an indolent course and favorable prognosis. This report describes five patients with a fulminating and life-threatening variant of this syndrome. Four patients presented with respiratory failure requiring respiratory assistance and positive pressure ventilation. Early recognition of the entity and prompt initiation of corticosteroid therapy in three patients was instrumental in preventing mortality. Our findings suggest that idiopathic BOOP may be the underlying pathology in a number of patients presenting with ARDS. Since corticosteroid therapy may improve survival in these patients, clinicians should heighten their index of suspicion for this entity. Early histologic diagnosis and initiation of corticosteroid therapy should be considered in patients with unexplained ARDS.