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1.
Klin Onkol ; 35(4): 271-275, 2022.
Article in English | MEDLINE | ID: mdl-35989083

ABSTRACT

INTRODUCTION: Neuregulin 1 (NRG1) gene fusion was detected in a wide range of carcinomas. It is most frequently present in lung adenocarcinomas, especially in KRAS and BRAF wild-type cases. PURPOSE: We present a newly described diverse group of NRG1 rearranged carcinomas. The paper explains basic molecular principles associated with this oncogenic driver. It consists of ERBB3 (HER3) and ERBB2 (HER2) receptor activation with downstream activation of PIK and MAPK canonical pathways. The experience with new therapeutic modalities is summarized. CONCLUSIONS: So far, the global results of cytotoxic, immune and targeted therapies were dis-appointing. Further research (including two studies in Europe) is underway, developing new therapeutic strategies and examining this cancer bio-logy. In the meantime, it is possible to dia-gnose NRG1 rearranged carcinomas in the Czech Republic since mRNA next generation sequencing (NGS) analysis is readily available.


Subject(s)
Neoplasms , Neuregulin-1 , Adenocarcinoma of Lung/drug therapy , Adenocarcinoma of Lung/genetics , Adenocarcinoma of Lung/metabolism , Antineoplastic Agents/therapeutic use , Humans , Lung Neoplasms/drug therapy , Lung Neoplasms/genetics , Lung Neoplasms/metabolism , Neoplasms/genetics , Neoplasms/metabolism , Neuregulin-1/genetics , Neuregulin-1/metabolism , Precision Medicine , Receptor, ErbB-2/genetics , Receptor, ErbB-2/metabolism
2.
Cesk Slov Oftalmol ; 57(2): 92-8, 2001 Mar.
Article in Czech | MEDLINE | ID: mdl-11338273

ABSTRACT

PURPOSE: To evaluate quality of binocular vision in dependence on type of cataract, time of surgery and type of aphakic correction with minimal 5 years follow up. METHODS: 127 children divided into 3 groups: Group A--24 children with monolateral congenital cataract, Group B--56 children with bilateral congenital cataract, Group C--47 children with traumatic cataract. Binocular vision results were evaluated 5-10 years after cataract surgery subordinated on the type of aphakic correction-PC IOL, contact lenses, spectacles, type of cataract (congenital mono or bilateral, traumatic) and time of cataract surgery. RESULTS: Group A: Binocular vision in 56% children with cataract surgery in the first 3 months of age and only 20% of binocular vision in children operated later. Binocular vision results in dependence on aphakic correction (46% in contact lens subgroup, 44% in PCIOL subgroup without statistically significant differences. Group B: Binocular vision in 76% of children operated in the first 3 months of age, and 79% of children operated later. Binocular vision in 68% of children in spectacle aphakic correction subgroup, 67% of children in contact lenses subgroup, and 75% of children in primary or secondary implanted PC IOL subgroup. Group C: Binocular vision in 80% of children with contact lenses subgroup, and in 84% of children with implantation PC IOL. CONCLUSION: Better results of binocular vision quality have children with cataract extraction in the first three months of age then children operated later in group with monolateral congenital cataract. Primary or secondary implantation of PC IOL was find to the better aphakic correction for the binocular visual results in the groups with bilateral congenital cataract and traumatic cataract than other types of aphakic correction. Amblyopia is a major determinate of visual outcome in childhood cataract. The timing of surgery--the early cataract removal will continue to be more important than the method of aphakic optical correction, especially in the case of monolateral congenital cataract.


Subject(s)
Cataract Extraction , Vision, Binocular , Cataract/congenital , Cataract/etiology , Cataract/physiopathology , Child , Child, Preschool , Eye Injuries/complications , Follow-Up Studies , Humans , Infant , Retrospective Studies
3.
Cesk Slov Oftalmol ; 56(6): 361-5, 2000 Oct.
Article in Czech | MEDLINE | ID: mdl-11225267

ABSTRACT

To assess normal intraocular pressure values of the child population the authors examined a group of 215 children aged 4 to 15 years with a normal ophthalmological finding, a total of 406 eyes. All tonometric examinations were made without general anaesthesia or other pharmacological measures influencing the air-puff contact-free tonometer NT 1100 NIDEK, always the mean of three reliable results. Although there were certain variations of the intraocular pressure, they were not correlated to the child's age after the age of 4 years. The mean intraocular pressure in the whole group of 406 eyes was 16.08 +/- 3.08 mm Hg. Knowledge of normal values of the IOP in children is important for diagnosis as well as for monitoring of already verified glaucoma.


Subject(s)
Intraocular Pressure , Adolescent , Child , Child, Preschool , Humans , Reference Values
4.
Cesk Slov Oftalmol ; 56(6): 366-9, 2000 Oct.
Article in Czech | MEDLINE | ID: mdl-11225268

ABSTRACT

The authors investigated a group of 406 healthy eyes of children aged 4 to 15 years to test the effect of the local carboanhydrase inhibitor TRUSOPT on natural previously assessed intraocular pressure. The measurements made by means of an air-puff contact-free tonometer NT 1100 NIDEK revealed a highly significant decline of intraocular pressure--from 16.08 mm Hg to 14.07 mm Hg on average in the whole group. The tolerance of the drug after a single administration caused no problems, no undesirable effect was recorded. This is the first and only report on the effect of TRUSOPT on normal intraocular pressure of the child eye reported in the literature in a statistically significant group. The authors are surprised by the fact that the possibility of favourable pharmacological treatment of child glaucoma with clinically widely used Trusopt is not used so far.


Subject(s)
Carbonic Anhydrase Inhibitors/pharmacology , Intraocular Pressure/drug effects , Sulfonamides/pharmacology , Thiophenes/pharmacology , Adolescent , Child , Child, Preschool , Humans
5.
Cesk Slov Oftalmol ; 54(2): 82-5, 1998 Apr.
Article in Czech | MEDLINE | ID: mdl-9622945

ABSTRACT

The authors investigated in a group of six children with glaucoma persisting for a long time the possibility to use locally applied carbonic anhydrase inhibitor, 2% dorsolamide hydrochloride in the form of eye drops (TRUSOPT, Merck Co.). In the submitted preliminary study they evaluate the effectiveness of the drug in glaucoma in children very favourably, previous essential treatment with oral acetazolamide could be discontinued in all patients without a deleterious effect. The authors did not encounter any undesirable effects of the drug nor manifestations of intolerance calling for discontinuation of TRUSOPT treatment. This is so far the first communication on TRUSOPT treatment of child glaucoma in the available literature.


Subject(s)
Carbonic Anhydrase Inhibitors/administration & dosage , Glaucoma/drug therapy , Sulfonamides/administration & dosage , Thiophenes/administration & dosage , Adolescent , Child , Child, Preschool , Female , Humans , Male , Ophthalmic Solutions
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