A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

ConclusionThe obtained results confirm genotype ‒phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

Authors: Sugimoto K, Yoshihisa A, Nakazato K, Yokokawa T, Misaka T, Oikawa M, Kobayashi A, Yamaki T, Kunii H, Ishida T, Takeishi Y Abstract Pulmonary hypertension (PH) caused by left-sided heart disease (LHD-PH) is classified into 2 types: isolated post-capillary PH (Ipc-PH) and combined pre- and post-capillary PH (Cpc-PH). However, the impact of pulmonary vascular resistance (PVR) or diastolic pressure gradient (DPG) on the prognosis of LHD-PH has varied among previous studies. Thus, we verified the significance of PVR or DPG on the prognosis of LHD-PH in our series.We analyzed 243 consecutive LHD-PH patients. The...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Condition:   Pulmonary Hypertension Intervention:   Radiation: Thoracic computed tomography Sponsors:   Medical University of Graz;   Ludwig Boltzmann Institute Lung Vascular Research Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Pulmonary endarterectomy (PEA) is a curative surgical option for patients with chronic thromboembolic pulmonary hypertension (CTEPH), a disease resulting from chronic pulmonary thromboembolism. The role of sarcopenia (i.e. low skeletal muscle mass) has been shown to be associated with adverse outcomes in surgical populations, but its significance with PEA remains unknown. We sought to evaluate the association of sarcopenia with measures of CTEPH severity and post-operative hospital outcomes.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (57) Source Type: research
Pulmonary endarterectomy (PEA) is curative for suitable chronic thromboembolic pulmonary hypertension (CTEPH) patients. Careful anticoagulation prevents postoperative bleeding and thromboembolic recurrence. Heparinization is often guided by aPTT but it can be influenced by Factor VIII - a coagulation factor elevated in CTEPH. Anti-Xa-guided anticoagulation is less affected by other factors. We investigated the correlation between aPTT and Anti-Xa after PEA and the impact of coagulation factors.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (56) Source Type: research
Pulmonary artery sarcoma (PAS) is an exceedingly rare disease with historically poor survival. PAS is often mistaken for chronic thromboembolic pulmonary hypertension (CTEPH) owing to similarities in clinical presentation. Controversy exists regarding need to definitively differentiate PAS from CTEPH prior to surgical therapy. Furthermore lung resection would seem inferior palliation to tumor endarterectomy in a predominantly bilateral disease dominated by hemodynamic compromise.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (55) Source Type: research
The REVEAL risk score (RRS) predicts 1-year survival in patients with pulmonary arterial hypertension; it also improved with riociguat in patients with inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) in the Phase III CHEST-1 study, and predicted survival and clinical worsening-free survival (CWFS) in the long-term extension CHEST-2. RRS 2.0, an updated RRS, was developed based on modified point values, cut-offs, and variables. This post hoc analysis aimed to validate RRS 2.0 in the CHEST database (a population not derived from REVEAL), as done previously, and assess if the tool disc...
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (54) Source Type: research
Chronic thromboembolic pulmonary hypertension (CTEPH), is a progressive condition characterized by persistent elevation in pulmonary artery pressure due to thromboembolic occlusion of the pulmonary arteries. Little is known about the cells that make up the cast of pulmonary endarterectomy (PEA) and its immune microenvironment. Here we report a map of the cellular landscape of the human PEA specimen using single-cell RNA sequencing.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (53) Source Type: research
Pulmonary endarterectomy (PEA) is established as the recommended treatment for chronic thromboembolic pulmonary hypertension (CTEPH). The aim of this work was to review outcomes by era at a high-volume national PEA centre.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (52) Source Type: research
Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by organized thrombi in the pulmonary arteries leading to right heart failure and death. Impaired angiogenesis and systemic inflammation could be involved in the pathophysiology of this disease. The aim of this study was to determine the angiogenic expression profile in patients with CTEPH.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (51) Source Type: research
We present a case of severe pulmonary hypertension in the setting of perimembranous VSD and severe AS.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (24) Source Type: research
More News: Genetics | Hypertension | Israel Health | Perinatology & Neonatology | Pulmonary Hypertension | Study