36 research outputs found
DENTEX: An Abnormal Tooth Detection with Dental Enumeration and Diagnosis Benchmark for Panoramic X-rays
Panoramic X-rays are frequently used in dentistry for treatment planning, but
their interpretation can be both time-consuming and prone to error. Artificial
intelligence (AI) has the potential to aid in the analysis of these X-rays,
thereby improving the accuracy of dental diagnoses and treatment plans.
Nevertheless, designing automated algorithms for this purpose poses significant
challenges, mainly due to the scarcity of annotated data and variations in
anatomical structure. To address these issues, the Dental Enumeration and
Diagnosis on Panoramic X-rays Challenge (DENTEX) has been organized in
association with the International Conference on Medical Image Computing and
Computer-Assisted Intervention (MICCAI) in 2023. This challenge aims to promote
the development of algorithms for multi-label detection of abnormal teeth,
using three types of hierarchically annotated data: partially annotated
quadrant data, partially annotated quadrant-enumeration data, and fully
annotated quadrant-enumeration-diagnosis data, inclusive of four different
diagnoses. In this paper, we present the results of evaluating participant
algorithms on the fully annotated data, additionally investigating performance
variation for quadrant, enumeration, and diagnosis labels in the detection of
abnormal teeth. The provision of this annotated dataset, alongside the results
of this challenge, may lay the groundwork for the creation of AI-powered tools
that can offer more precise and efficient diagnosis and treatment planning in
the field of dentistry. The evaluation code and datasets can be accessed at
https://github.com/ibrahimethemhamamci/DENTEXComment: MICCAI 2023 Challeng
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins,
which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin
and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding
the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin
B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However,
human kisspeptin loss-of-function mutations have not been described, and contradictory
findings have been reported in Kiss1-knockout mice. We describe an inactivating
mutation in KISS1 in a large consanguineous family that results in failure of
pubertal progression, indicating that functional kisspeptin is important for puberty
and reproduction in humans. (Funded by the Scientific and Technological Research
Council of Turkey [TÜBİTAK] and others.)http://www.nejm.org/nf201
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in POU6F2 in 15 patients. POU6F2 encodes two distinct isoforms. In the adult mouse, expression of both isoform1 and isoform2 was detected in the brain, pituitary, and gonads. However, only isoform1 was detected in mouse primary GnRH cells and three immortalized GnRH cell lines, two mouse and one human. To date, the function of isoform2 has been verified as a transcription factor, while the function of isoform1 has been unknown. In the present report, bioinformatics and cell assays on a human-derived GnRH cell line reveal a novel function for isoform1, demonstrating it can act as a transcriptional regulator, decreasing GNRH1 expression. In addition, the impact of the two most prevalent POU6F2 variants, identified in five IHH patients, that were located at/or close to the DNA-binding domain was examined. Notably, one of these mutations prevented the repression of GnRH transcripts by isoform1. Normally, GnRH transcription increases as GnRH cells mature as they near migrate into the brain. Augmentation earlier during development can disrupt normal GnRH cell migration, consistent with some POU6F2 variants contributing to the IHH pathogenesis
Volume CXIV, Number 4, November 7, 1996
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa
AN INFANTILE HYPOPHOSPHATASIA CASE DUE TO A NOVEL MUTATION IN TNSALP GENE
WOS: 000412595401174
A NOVEL FRAMESHIFT MUTATION IN ESCO2 GENE CAUSE ROBERTS SYNDROME: CASE PRESENTATION
WOS: 000412595404145
A CASE OF SEX DEVELOPMENT DISORDER DUE TO A NOVEL MUTATION IN 5 ALFA REDUCTASE (SRD5A2) GENE
WOS: 000412595404122
COMBINATION OF HIRSCHSPRUNG DISEASE AND A NOVEL DEFINED MUTATION RELATED CONGENITAL ADRENAL HYPERPLASIA IN CYP21A2 GENE: CASE PRESENTATION
WOS: 000412595405015