Association of Gln27Glu polymorphism of the β-2- adrenergic receptor with preeclampsia

The aim of the study was to assess the role of the β-2-adrenoceptor (ADRB2) polymorphisms occurring at amino acid positions 16 (arginin to glycine) and 27 (glutamine to glutamic acid) in preeclampsia. A group of 66 patients with preeclampsia and 72 control subjects were analyzed for the Arg16Gly and Gln27Glu polymorphisms of the ADRB2 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Comparisons of the ADRB2 genotypes or alleles between different groups were performed using chi-square test. We found a significant association (P = 0.01) between the Gln27Glu substitution and preeclampsia. The Glu27 allele and Glu/Glu and Gln/Glu genotypes were significantly more common in preeclampsia group when compared with control subjects (25 versus 39%, P = 0.02 and 14 versus 5%, 50 versus 39%, P = 0.01, respectively). Our results imply that the existence of Glu27 allele may confer susceptibility to preeclampsia in Turkish population.Key words: β-2-Adrenoceptor, preeclampsia, polymorphism

Unertan syndrome" in two Turkish families in relation to devolution and emergence of homo erectus: Neurological examination, MRI, and PET scans

PubMedID: 18300005"Unertan syndrome" consists of two main symptoms: quadrupedal gait and primitive cognitive abilities including language and conscious experience. To assess the central mechanisms involved in this syndrome, the authors performed MRI and PET scans on affected and unaffected individuals from both families. All affected individuals were also subjected to neurological examination. To assess the integrity of the peripheral and central vestibular system, Barany's caloric test was applied to the affected individuals. Brain MRI and PET scans were performed on normal subjects (n = 7) and patients (n = 7). Right- and left-cerebral and cerebellar areas, including the vermial and callosal areas, were measured on the MRI scans using a computer cursor. Quadrupedal gait, mental retardation, dysartric speech, nystagmus, severe truncal ataxia, hyperreflexia, astasia, and abasia were observed in the affected individuals from both families. Cerebellum and vermis were atrophic in the MRI and PET scans of the first family. In contrast, the brain MRI seemed to be normal in the MRI and PET scans of affected individuals from the second family. The caloric test revealed central vestibular damage in patients from the first family and peripheral vestibular damage in patients from the second family. The results suggest that "Unertan syndrome," discovered in two unrelated families, may be caused by peripheral or central vestibular damage resulting from different genetic defects. Cerebellar hypoplasia may not be a prerequisite for the emergence of this syndrome. Primitive mental abilities may be explained by damage within the vestibulo-cerebellar system, whereas the quadrupedal gait may be due to a genetic defect within the higher brain centers that suppress the atavistic brain networks controlling quadrupedal gait and helped in the emergence of the habitual bipedal gait during human evolution. This retarded development of human locomotion - devolution - may illuminate the brain mechanisms responsible for the transition from quadrupedality to bipedality in human evolution. Copyright © 2008 Informa Healthcare USA, Inc.This study is partly supported by the Turkish Academy of Sciences, Ankara, Turkey. The authors thank the president of the GaziAntep University, Prof. Dr. Erhan Ekinci, for his support in preparation and completing of the research project written by SP and UT

Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma

Objective: It has been shown that arginine to glycine (Arg16Gly), glutamine to glutamic acid (Gln27Glu) and threonine to isoleucine (Thr164Ile) exchanges in codons 16, 27 and 164, respectively, of the beta 2-adrenergic receptor (B2AR) gene significantly alter receptor function. As B2ARs are located on the afferent blood vessels supplying the ciliary body and trabecular meshwork cells, which control aqueous humour dynamics, polymorphisms of B2AR may be involved in the pathophysiology of certain eye diseases, such as glaucoma. Therefore, the aim of the present study was to investigate the distribution of B2AR polymorphisms in patients with primary congenital and primary open angle glaucoma. Methods: A group of 30 patients with primary congenital glaucoma, 105 with primary open angle glaucoma and 92 control patients were analysed for the Arg16Gly, Gln27Glu, and Thr164IIe polymorphisms of the B2AR by polymerase chain reaction-restriction fragment length polymorphism. Results: The allelic frequencies of Gly16, Glu27 and IIe164 variant alleles were 66.7, 38.3 and 3.3% in patients with congenital glaucoma, 59.5, 31.0 and 1.0% with glaucoma, and 54.9, 26.6 and 0.5% in controls, respectively. Although statistically non-significant, the frequencies of variant alleles were slightly higher in both groups of the glaucoma patients. Conclusions: These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma. However, further studies are needed to understand the role of B2AR polymorphisms in patients with eye disease

Clinical and demographic features of hidradenitis suppurativa: a multicentre study of 1221 patients with an analysis of risk factors associated with disease severity.

Background Hidradenitis suppurativa (HS) is a chronic, relapsing and debilitating inflammatory disease associated with profound morbidity

LID - 10.1111/ced.14478 [doi]

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, relapsing and debilitating inflammatory disease associated with profound morbidity. AIM: In this multicentre study, we investigated the demographic and clinical features of HS, and determined risk factors of disease severity. METHODS: In total, 1221 patients diagnosed with HS from 29 centres were enrolled, and the medical records of each patient were reviewed. RESULTS: The mean age of disease onset was 26.2 ± 10.4 years, and almost 70% (n = 849) of patients were current or former smokers. Mean disease duration was 8.9 ± 8.4 years with a delay in diagnosis of 5.8 ± 3.91 years. Just over a fifth (21%; n = 256) of patients had a family history of HS. The axillary, genital and neck regions were more frequently affected in men than in women, and the inframammary region was more frequently affected in women than in men (P < 0.05 for all). Acne (40.8%), pilonidal sinus (23.6%) and diabetes mellitus (12.6%) were the most prevalent associated diseases. Of the various therapies used, antibiotics (76.4%) were most common followed by retinoids (41.7%), surgical interventions (32.0%) and biologic agents (15.4%). Logistic regression analysis revealed that the most important determinants of disease severity were male sex (OR = 2.21) and involvement of the genitals (OR = 3.39) and inguinal region (OR = 2.25). More severe disease was associated with comorbidity, longer disease duration, longer diagnosis delay and a higher number of smoking pack-years. CONCLUSIONS: Our nationwide cohort study found demographic and clinical variation in HS, which may help broaden the understanding of HS and factors associated with disease severity

Clinical and demographic features of hidradenitis suppurativa: a multicentre study of 1221 patients with an analysis of risk factors associated with disease severity

Background: Hidradenitis suppurativa (HS) is a chronic, relapsing and debilitating inflammatory disease associated with profound morbidity. Aim: In this multicentre study, we investigated the demographic and clinical features of HS, and determined risk factors of disease severity. Methods: In total, 1221 patients diagnosed with HS from 29 centres were enrolled, and the medical records of each patient were reviewed. Results: The mean age of disease onset was 26.2 ± 10.4 years, and almost 70% (n = 849) of patients were current or former smokers. Mean disease duration was 8.9 ± 8.4 years with a delay in diagnosis of 5.8 ± 3.91 years. Just over a fifth (21%; n = 256) of patients had a family history of HS. The axillary, genital and neck regions were more frequently affected in men than in women, and the inframammary region was more frequently affected in women than in men (P < 0.05 for all). Acne (40.8%), pilonidal sinus (23.6%) and diabetes mellitus (12.6%) were the most prevalent associated diseases. Of the various therapies used, antibiotics (76.4%) were most common followed by retinoids (41.7%), surgical interventions (32.0%) and biologic agents (15.4%). Logistic regression analysis revealed that the most important determinants of disease severity were male sex (OR = 2.21) and involvement of the genitals (OR = 3.39) and inguinal region (OR = 2.25). More severe disease was associated with comorbidity, longer disease duration, longer diagnosis delay and a higher number of smoking pack-years. Conclusions: Our nationwide cohort study found demographic and clinical variation in HS, which may help broaden the understanding of HS and factors associated with disease severity. © 2020 British Association of Dermatologist