Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide‐selective sequencing
This study represents the first clinical study with OS‐Seq technology on patients suffering from a rare genetic disorder. We analyzed DNA samples from 21 Finnish PAH patients, whose BMPR2 and ACVRL1 mutation status had been previously studied using Sanger sequencing. Our sequencing panel covered 100% of the targeted base pairs with>15× sequencing depth. Pathogenic base substitutions were identified in the BMPR2 gene in 29% of the Finnish PAH cases. Two of the pathogenic variant‐positive patients had been previously tested negative using Sanger sequencing. No clinically significant variants were identified in the six other PAH genes. Our study validates the use of targeted OS‐Seq for genetic diagnostics of PAH and revealed pathogenic variants that had been previously missed using Sanger sequencing. The genetic bases of pulmonary arterial hypertension (PAH) are poorly understood among Finnish patients. Utilizing a novel‐targeted next‐generation sequencing approach called Oligonucleotide‐Selective Sequencing (OS‐Seq) we analyzed 21 Finnish patients diagnosed with PAH to detect pathogenic base substitutions, insertions, and deletions in seven genes associated with the disease. Our study presents the first clinical study of Finnish PAH patients using OS‐Seq and validates its use for genetic diagnostics for PAH.
Little information is available about the risk of end-stage renal disease (ESRD) after preeclampsia. The review of Covella et al. demonstrated that former preeclamptic women have a significant risk of ESRD in the medium term. However, it is still unknown which preeclamptic woman are at higher risk for progressive kidney disease. After delivery, women who had preeclampsia, particularly those with persistent hypertension, symptomatic proteinuria, or microalbuminuria, should receive a regular checkup for kidney disease.
An 82-year-old male, with a history of bowel cancer with partial colectomy, gastroesophageal reflux disease, remote partial gastrectomy for peptic ulcer disease, and no documented prior kidney disease, presents with several months of fatigue and subacute decline in kidney function. He had no history of diabetes, hypertension, kidney stones, or prior urinary tract infections. He denied use of nonsteroidal anti-inflammatory agents, herbal medications, and recent antibiotics. There was no family history of renal disease.
Median arcuate ligament syndrome is the result of celiac axis compression by the diaphragmatic crura. Although the celiac artery is the most common vessel to have compression, the renal arteries also may rarely be compressed by the crural fibers of the diaphragm and may cause secondary hypertension.
This study was undertaken to define the character of these renal artery stenoses. A better understanding of this disease is particularly germane, given its unknown etiology and the limited success of certain treatment options.
Publication date: Available online 20 August 2019Source: The Lancet NeurologyAuthor(s): Christopher A Lane, Josephine Barnes, Jennifer M Nicholas, Carole H Sudre, David M Cash, Thomas D Parker, Ian B Malone, Kirsty Lu, Sarah-Naomi James, Ashvini Keshavan, Heidi Murray-Smith, Andrew Wong, Sarah M Buchanan, Sarah E Keuss, Elizabeth Gordon, William Coath, Anna Barnes, John Dickson, Marc Modat, David ThomasSummaryBackgroundMidlife hypertension confers increased risk for cognitive impairment in late life. The sensitive period for risk exposure and extent that risk is mediated through amyloid or vascular-related mechanisms are p...
Background: Hidradenitis suppurativa (HS) is a debilitating and distressing chronic inflammatory skin disease. Other chronic inflammatory diseases have been linked with metabolic syndrome. However, it is unclear whether this association is independent or driven by underlying risk factors and comorbidities in common, such as obesity, dyslipidemia, hyperglycemia and hypertension.
Paraneoplastic icthyosis (PI) is an acquired icthyosis presenting as cutaneous xerosis and scaling of different severities associated with an underlying systemic disease that may be neoplastic or nonneoplastic in origin. A 59-year-old female with a history of diabetes and hypertension, presented to our dermatology department with a 1-month history of disseminated scaling, accompanied by pruritus, xerosis, asthenia, and nonintentional weight-loss of approximately 5 kg. Further physical examination revealed erythematous plaques in the sub-mammarian, axillary and inguinal folds consistent with intertrigo.
Staphylococcal scalded skin syndrome (SSSS) is an exfoliative skin syndrome that occurs as a reaction to an exotoxin released by Staphylococcus aureus, and most commonly occurs in children and adults with renal failure or immunocompromised. Patients can have variation of severity, from localized blisters to generalized skin exfoliation involving all body surfaces. SSSS can be life-threating and should be diagnosed and treated promptly. This is a case of 51 y/o woman with hypertension, type 2 diabetes mellitus, cardiomyopathy, and renal failure for which has been receiving hemodialysis (HD) for the past 4 years that present...
Background: Cyclosporine (CsA) is a potent immunosuppressant that has been used in the management of atopic dermatitis (AD). Its use is limited due to its potential for side effects including nephrotoxicity and hypertension.
Conditions: Cardiovascular Diseases; Cardiovascular Risk Factor; High Blood Pressure; Hypertension; Hyperlipidemias; Hyperglycemia Interventions: Other: the healthy Cantonese diet; Other: the typical Cantonese diet Sponsor: Sun Yat-sen University Not yet recruiting