Primary ciliary dyskinesia in the genomics age

Publication date: Available online 14 October 2019Source: The Lancet Respiratory MedicineAuthor(s): Jane S Lucas, Stephanie D Davis, Heymut Omran, Amelia ShoemarkSummaryPrimary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired function of motile cilia causes failure of mucociliary clearance. Patients typically present with neonatal respiratory distress of unknown cause and then continue to have a daily wet cough, recurrent chest infections, perennial rhinosinusitis, otitis media with effusion, and bronchiectasis. Approximately 50% of patients have situs inversus, and infertility is common. While understanding of the underlying genetics and disease mechanisms have substantially advanced in recent years, there remains a paucity of evidence for treatment. Next-generation sequencing has increased gene discovery, and mutations in more than 40 genes have been reported to cause primary ciliary dyskinesia, with many other genes likely to be discovered. Increased knowledge of cilia genes is challenging perceptions of the clinical phenotype, as some genes reported in the last 5 years are associated with mild respiratory disease. Developments in genomics and molecular medicine are rapidly improving diagnosis, and a genetic cause can be identified in approximately 70% of patients known to have primary ciliary dyskinesia. Groups are now investigating novel and personalised treatments, although gene therapies are unlikely to be available in the near future...
Source: The Lancet Respiratory Medicine - Category: Respiratory Medicine Source Type: research

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Publication date: Available online 16 November 2019Source: Reproductive BioMedicine OnlineAuthor(s): Shuang Yuan, Yichao Qiu, Yuanyuan Xu, Hongjing WangAbstractIncreasing evidence shows that HPV infection affects reproductive health and fertility, although its impact on female fertility has not been thoroughly studied. We conducted a meta-analysis of 12 studies including 15450 female subjects that compared HPV prevalence between the infertile and general population, and evaluated the association between HPV positivity and female infertility. Seven case-controlled studies on 3581 participants reported indiscriminate genotyp...
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
ConclusionOur study indicates RA-ILD among Blacks is predominantly a disease of elderly females with higher rates of GERD and CVD risk factors. Further studies are needed to identify the pathogenetic differences accounting for the gender distribution of RA-ILD among Black and White populations.Key Points•First study to assess ILD among predominantly Black RA patients.•The prevalence of RA-associated ILD was 6.36%, affecting mostly women in their sixth decade with seropositive disease.•COPD was the most common airway disease among non-RA-ILD Black population.•GERD was found in approximately one-third of ...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
We present a 48 year-old active duty physician who initially presented in 2007 with dyspnea and cough. Despite the absence of variable obstruction on spirometry, a clinical diagnosis of asthma was made. The patient's symptoms were temporized with inhaled corticosteroids and bronchodilators, titrated to his symptoms, until eventual therapeutic failure resulted in re-referral to pulmonary. Chest computed tomography (CT) showed ground-glass nodules and patchy airspace opacities with evidence of thoracic lymphadenopathy. A positron emission tomography CT (PET CT) showed diffuse adenopathy throughout his thorax and abdomen with...
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Tags: Amenorrhea and Infertility Source Type: blogs
This article provides an evidence-based personal perspective on the future of cell and gene therapy for degenerative diseases of the intervertebral disc. This paper focuses on how mammalian protein production platforms and transfected and irradiated protein packaging cell lines may be used as “cellular factories” for overproduction of therapeutic proteins and proanabolic growth factors, particularly in the context of regenerative therapies. This paper also speculates on future opportunities and challenges in this area of research and how new innovations in biotechnology affect cell a nd gene therapy for degenerative diseases.
Source: Neurosurgery Clinics of North America - Category: Neurosurgery Authors: Source Type: research
We report a case of a 36-year-old woman with type 2 diabetes mellitus and a one-year of primary infertility. Following oral ovulation induction cycles and IUI, diagnosis of heterotopic cervical pregnancy was made by ultrasonography at 7.4 weeks of gestation. Laser ablation of the cervical pregnancy was performed achieving adequate homeostasis at the implantation site and preserving the intrauterine pregnancy. A healthy infant was delivered at 36 0/7 wks by cesarean-section.Laser ablation is a minimally invasive procedure that appears to lead to successful outcomes in treatment of heterotopic cervical pregnancy.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
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