Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

Author(s):  
Parith Wongkittichote ◽  
Daniel J. Wegner ◽  
Marwan S. Shinawi
2020 ◽  
Vol 25 (2) ◽  
pp. 121-126
Author(s):  
V. G. Galonsky ◽  
N. V. Tarasova ◽  
V. V. Aliamovskii ◽  
I. S. Leonovich

Relevance. Separate issues in anthropomorphic sizes of relative norm of the ideal smile, its qualitative and qualitative parameters have not been addressed to sufficiently and are not properly reflected in scientific literature.Purpose. To determine distinguishing features in average smile parameters of the smile in male and female patients with orthognathic occlusion.Materials and methods. A clinical and anthropometric evaluation of parameters in main smile types was carried out for 150 young males and 150 young females aged 19-24 who had identical physiological development parameters.Results. It has been revealed that occurrence frequency of main smile types in patients with orthognathic occlusion has pronounced signs of sexual dimorphism which in over one half of the cases lies in predominance of the incisal smile type in males (52.7%) and the fascial type in females (55.3%). Occurence frequency of the cervical smile type totaled 25% among the studied patients of both genders. Average vertical size parameters in the incisal smile lies within the diapason of 3.91-4.91mm with surpassing by 1mm in males. Analogical data for the fascial smile type form the diapason of 6.21-6.73mm with surpassing by 0.52mm in females. The cervical smile type is characterised by larger vertical size forming the diapason of 7.94-8.91mm with surpassing by 0.97mm in males.Conclusion. The results of the study have shown that the “beautiful and ideal smile” is a relative concept having varied anthropometric characteristics and pronounced signs of sexual dimorphism lying in a broad spectrum of the dentofacial system norm notion with specific vectors for individual morphological deviations.


1997 ◽  
Vol 8 (12) ◽  
pp. 792-795 ◽  
Author(s):  
Eric F Monteiro ◽  
Janet Harris ◽  
Paul Gilliatt

Summary: Nine genitourinary clinics (one teaching hospital and 8 district general hospitals) within the Yorkshire Deanery audited the management of uncomplicated genital chlamydial infections in male and female patients attending between January and December 1995. Standards set included: 100% of chlamydia-positive patients to be treated within 2 weeks of diagnosis; 100% of patients to return for test of cure within one month of treatment; 100% of patients to be referred for contact tracing. Four hundred and thirty-six of a total 1356 cases were audited. Eighty-nine per cent received treatment within 2 weeks; 64% returned for a test of cure within one month; 93% were referred for contact tracing. Changes in practice and a regionwide multidisciplinary audit initiative resulted from the study.


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