Congenital agenesis of pubis and bilateral cryptorchidism: A case report

AbstractINTRODUCTIONAgenesis of the pubic bone, as evidenced in the world literature, is a very rare clinical and congenital abnormality. Several disorders may occur with hypoplasia of the pubis.PRESENTATION OF CASEHere, we report a rare longer follow-up case of the congenital unilateral agenesis of the superior ramus of pubic bone with bilateral undescended testes, osteoporosis, cranial malformations, acetabular dysplasia, unilateral shortening of the lower extremity and an abnormal gait pattern.DISCUSSIONSomatic mutations may responsible for developmental abnormalities of the mesoderm from which the pubic bones and urogenital structures develop.CONCLUSIONAn isolated x-ray finding of ramus pubis agenesis may associate with cryptorchidism or several other urogenital malformations

Cerebral Venous Sinus Thrombosis as a Rare Complication of Systemic Lupus Erythematosus: Subgroup Analysis of the VENOST Study

Kozak, Hasan Huseyin/0000-0001-6904-8545; Sahin, Sevki/0000-0003-2016-9965; Batur Caglayan, Hale/0000-0002-3279-1842; GUNES, TASKIN/0000-0002-9343-0573; Afsar, Nazire/0000-0001-8123-8560; Uzuner, Nevzat/0000-0002-4961-4332WOS: 000498868800011PubMed: 31562041Aim: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics. Material and Method: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded. Results: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 +/- 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up. Conclusions: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings

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

Cerebral Venous Sinus Thrombosis as a Rare Complication of Systemic Lupus Erythematosus: Subgroup Analysis of the VENOST Study

Aim: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics. Material and Method: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded. Results: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 +/- 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up. Conclusions: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings

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)

Epileptic seizures in cerebral venous sinus thrombosis: Subgroup analysis of VENOST study

Purpose: The aim of this study is to evaluate the presence and prognostic impact of early seizures in cerebral venous sinus thrombosis patients (CVST)