Clinical and molecular characterization of an 18 ‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

ConclusionOur findings expand both the knowledge of the clinical phenotype and the allelic repertoire of ARCL1C. The comparison of the patient's features with those of the other patients reported up to now offers future perspectives for clinical research in this field.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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We report successful anaesthetic management of an accidental traumatic rupture of the left main bronchus during surgical dissection in an elderly lady of Carcinoma Oesophagus who underwent a Video Assisted Thoracoscopic surgery (VATS), and was managed by one lung ventilation of the contralateral (right) side manipulating the same DLT and lung protective ventilation.
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
ConclusionThis video shows how deep urinary endometriosis can be performed laparoscopically. Mastering suturing is essential to avoid complications.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Barotrauma-associated perforation of the colon is not common and usually occurs due to the passage of compressed air through the anus. Most of the cases are accidental and done for fun often at the victim's workplace. Therefore, it is necessary that the workers should be made aware of the dangers of the equipment they regularly use at their workplace. Here, we describe one such case where a rice mill worker died when compressed air through an air pump pipe entered his rectum. His chief complaint was abdominal pain and breathing difficulty. Computed tomography scan of the abdomen and thorax showed pneumoperitoneum, pneumome...
Source: The American Journal of Forensic Medicine and Pathology - Category: Forensic Medicine Tags: Original Articles Source Type: research
UCLA Health has launched a $20 million fundraising initiative to create a new center for advanced lung disease at theDavid Geffen School of Medicine at UCLA. To date, the initiative has secured $4.37 million for the Lung Health Research Accelerator Fund, including three gifts of $1 million each from Michael and Linda Keston, William Pierpoint, and Jeffrey and Robin Raich, and a total of $1.37 million from nine other donors.The fund will support the work of Dr. John Belperio and Dr. Joseph Lynch III in the medical school ’s division of pulmonary and critical care medicine. Belperio’s research is focused on ident...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
Abstract Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by cigarette smoking, genetic factors are also important determinants of COPD. In addition to Mendelian syndromes such as alpha-1 antitrypsin deficiency, many genomic regions that influence COPD susceptibility have been identified in genome-wide association studies. Similarly, multiple genomic regions associated with COPD-related phenotypes, such as quantitative emphysema measures, have been found. Identifying the functional variants and key genes within these association regions remains a major challenge. However, newly ide...
Source: Annual Review of Physiology - Category: Physiology Authors: Tags: Annu Rev Physiol Source Type: research
Pregnancy is associated with reactivation and transmission of latent polyomavirus to fetus. Polyomavirus is also known to cause ureteral stenosis and hydronephrosis.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
Abstract Smoking is a major risk factor for chronic obstructive pulmonary disease (COPD). Smoking susceptibility is important for the onset and development of COPD. We previously reported an association between serum iron levels and pulmonary function in male smokers. However, the mechanism governing smoking susceptibility in relation to iron deficiency is unclear; this study aimed to elucidate this mechanism. C57BL/6 male mice were fed an iron-deficient or normal diet, and then exposed to cigarette smoke. Bronchoalveolar lavage (BAL), histological analysis, and pulmonary function tests were performed after cigare...
Source: Am J Respir Cell Mol... - Category: Respiratory Medicine Authors: Tags: Am J Respir Cell Mol Biol Source Type: research
Metastasis of prostate cancer (PCa) to renal pelvis is extremely rare. A 64-year-old man was hospitalized for increased prostate specific antigen (PSA) after radical prostatectomy. 68Ga-PSMA-11 PET/CT showed hydronephrosis caused by a mass in the left renal pelvis without significant uptake of PSMA tracer. The histopathology indicated metastatic PCa with a Gleason score of 5+5 but negative for prostate specific membrane antigen (PSMA) following nephroureterectomy. Although metastasis to renal pelvis is rare, the occurrence possibility could not be ignored when with hydronephrosis is found in prostate cancer patients.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
CONCLUSIONS: CT density histogram overlap can quantify the degree of discernibility of emphysema and healthy lung tissue. Noise suppression software, IR, and soft reconstruction kernels substantially decrease the dose required for acceptable image quality. ADVANCES IN KNOWLEDGE: Noise suppression software, IR, and soft reconstruction kernels allow radiation dose reduction by 85% while still allowing differentiation between emphysema and normal lung tissue. PMID: 31724436 [PubMed - as supplied by publisher]
Source: The British Journal of Radiology - Category: Radiology Authors: Tags: Br J Radiol Source Type: research
Condition:   Pulmonary Emphysema Intervention:   Device: The Pulmonx Zephyr Endobronchial Valve (EBV) 5.5- LP Sponsor:   Pulmonx Corporation Enrolling by invitation
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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