A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax

Abstract Background Primary spontaneous pneumothorax (PSP) is a disease characterized by the accumulation of air in the pleural space between the lung and thoracic wall. It is more common in young, tall, thin, and asthenic men. A family history was reported for approximately 11.5% of individuals admitted with PSP. The literature has reported cases diagnosed with familial PSP, who have no manifestations of Birt–Hogg–Dubé (BHD) syndrome but mutations in different exons of the Folliculin (FLCN) gene. The aim of this study is to present a Turkish family in which 13 members from three generations of the same family developed recurrent isolated spontaneous pneumothorax with a novel mutation in the FLCN. Methods A male proband was diagnosed with spontaneous pneumothorax in the emergency department of the University of Health Sciences Haydarpasa Numune Training and Research Center, Istanbul, Turkey. His 12 relatives from three generations diagnosed with PSP, as revealed by his family history, were invited to the hospital to give blood samples for mutation analysis. The Sanger sequence data of FLCN were analyzed on the ENSEMBL website using SeqScape 3 and Codon Aligner software. Results A novel heterozygous mutation c. 1273C>T (p.Gln425Ter) was detected in exon 11 of the FLCN, which caused PSP in the proband and his 12 relatives tested using Sanger sequencing. Conclusion We found that a heterozygous mutation in exon 11 of FLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time in our study, might cause isolated familial spontaneous pneumothorax

A Multicenter Study of 1144 Patients with Cerebral Venous Thrombosis: the VENOST Study

Senol, M. Guney/0000-0001-6397-9293; Genc, Hamit/0000-0002-6198-2883; UZUNER, NEVZAT/0000-0002-4961-4332; Yesilot, Nilufer/0000-0002-9655-9487; Kozak, Hasan Huseyin/0000-0001-6904-8545; Afsar, Nazire/0000-0001-8123-8560; Uzuner, Nevzat/0000-0002-4961-4332; karahan, ali yavuz/0000-0001-8142-913X; Kusbeci, Ozge Yilmaz/0000-0002-4048-210X; Batur Caglayan, Hale/0000-0002-3279-1842; Tascilar, Nida/0000-0003-0780-0783; Zeydan, Burcu/0000-0002-2270-9868; Nazliel, Bijen/0000-0002-6148-3814; Ekmekci, Hakan/0000-0002-5605-2980WOS: 000407019200036PubMed: 28583818Background: Based on a number of small observational studies, cerebral venous sinus thrombosis has diverse clinical and imaging features, risk factors, and variable outcome. in a large, multicenter cerebral venous thrombosis (VENOST) study, we sought to more precisely characterize the clinical characteristics of Caucasian patients. Methods: All data for the VENOST study were collected between the years 2000 and 2015 from the clinical follow-up files. Clinical and radiological characteristics, risk factors, and outcomes were compared in terms of age and sex distribution. Results: Among 1144 patients 68% were women, and in older age group (>50 years) male patients were more prevalent (16.6% versus 27.8%). the most frequent symptoms were headache (89.4%) and visual field defects (28.9%) in men, and headache (86.1%) and epileptic seizures (26.8%) in women. Gynecological factors comprised the largest group in women, in particular puerperium (18.3%). Prothrombotic conditions (26.4%), mainly methylenetetrahydrofolate reductase mutation (6.3%) and Factor V Leiden mutation (5.1%), were the most common etiologies in both genders. 8.1% of patients had infection-associated and 5.2% had malignancy-related etiology that was significantly higher in men and older age group. Parenchymal involvement constitutively hemorrhagic infarcts, malignancy, and older age was associated with higher Rankin score. Epileptic seizures had no effect on prognosis. Conclusions: Clinical and radiological findings were consistent with previous larger studies but predisposing factors were different with a higher incidence of puerperium. Oral contraceptive use was not a prevalent risk factor in our cohort. Malignancy, older age, and hemorrhagic infarcts had worse outcome. (c) 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved

Behcet's disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study

Objective This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behcet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST)

Behcet's disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study

karahan, ali yavuz/0000-0001-8142-913X; Kozak, Hasan Huseyin/0000-0001-6904-8545; Uzuner, Nevzat/0000-0002-4961-4332; Tascilar, Nida/0000-0003-0780-0783; Afsar, Nazire/0000-0001-8123-8560; Zeydan, Burcu/0000-0002-2270-9868; Batur Caglayan, Hale/0000-0002-3279-1842WOS: 000465130500010PubMed: 29992235Objective This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behcet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST). Methods VENOST was a retrospective and prospective national multicentre observational study that included 1144 patients with CVST. The patients were classified according to aetiologic factors, time of CVST symptom onset, sinus involvement, treatment approach and prognosis. Results BD was shown to be a causative factor of CVST in 108 (9.4%) of 1144 patients. The mean age of patients in the BD group was 35.27 years and 68.5% were men, whereas in the non-BD CVST group, the mean age was 40.57 years and 28.3% were men (P < 0.001). Among the aetiologic factors for patients aged 18-36 years, BD was predominant for men, and puerperium was predominant for women. The onset of symptoms in the BD group was consistent with the subacute form. The transverse sinuses were the most common sites of thrombosis, followed by the superior sagittal sinuses. The most common symptom was headache (96.2%), followed by visual field defects (38%). Conclusions BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score 2)

Cerebral Venous Sinus Thrombosis in Women: Subgroup Analysis of the VENOST Study

Background. Early diagnosis of cerebral venous sinus thrombosis (CVST) associated with reproductive health-related risk factors (RHRF) including pregnancy, puerperium, and oral contraceptive (OC) use can prevent severe neurological sequelae; thus, the symptoms must be documented in detail for each group. Methods. Out of 1144 patients with CVST, a total of 777 women were enrolled from a multicenter for the study of cerebral venous sinus thrombosis (VENOST). Demographic, biochemical, clinical, and radiological aspects were compared for 324 cases with RHRF and 453 cases without RHRF. Results. The mean age of the RHRF (-) group (43.2 ± 13 years) was significantly higher than of the RHRF (+) group (34±9 years). A previous history of deep venous thrombosis (3%), isolated cavernous sinus involvement (1%), cranial neuropathy (13%), comorbid malignancy (7%), and its disability scores after 12 months (9%) were significantly higher in the RHRF (-) group. The RHRF (+) group consisted of 44% cases of puerperium, 33% cases of OC users and 23% of pregnant women. The mean age was found to be higher in OC users (38±9 years). A previous history of deep venous thrombosis was slightly higher in the pregnancy subgroup (4%). Epileptic seizures were more common in the puerperium group (44%). Conclusion. The results of our study indicate that the risk of CSVT increases parallel to age, OC use, and puerperium period. In addition, when considering the frequency of findings and symptoms, epileptic seizures in the puerperium subgroup of the RHRF (+) group and malignancies in the RHRF (-) group may accompany the CSVT. In daily practice, predicting these risks for the CSVT and early recognition of the symptoms will provide significant benefits to patients