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1.
Folia Morphol (Warsz) ; 81(1): 190-195, 2022.
Article in English | MEDLINE | ID: mdl-33438187

ABSTRACT

BACKGROUND: The purpose of this study was to examine the existence of correlation between the morphometric parameters of the intercondylar notch of the femur and the occurrence of meniscofemoral ligaments (MFLs) and if there is any relationship in the running angle (RA) value between narrowed and normal sized intercondylar notch. MATERIALS AND METHODS: Coronal, sagittal and horizontal magnetic resonance (MR) images of 90 patients with specified exclusion criteria were included in this study. The c2 test was used for statistical analysis. In our research either one or both MFLs were identified in 70 (77.8%) of the 90 coronal MR images. In normal sized intercondylar notch, MFLs was seen in 39 (43.3%) cases and on 31 (34.4%) MR images with narrowed intercondylar notch. RESULTS: A significant correlation was established between the occurrence of the MFL and morphometric parameters of the intercondylar notch (p < 0.05). In normal sized intercondylar notch, 12 posterior meniscofemoral ligaments (pMFLs) of type I were detected (RA value 42°), 8 of type II (RA value 33°), 5 of type III (RA value 23°) and two were of indeterminate type, whilst 10 anterior meniscofemoral ligaments (aMFLs) were of type I (RA value 39°), 7 of type II (RA value 31°), 2 of type III (RA value 25°) and the remaining 6 were indeterminate. In narrowed intercondylar notch, 10 ligaments of pMFLs were of type I (RA value 30°), 8 of type II (RA value 25°), 5 of type III (RA value 20°), 10 ligaments of aMFLs were of type I (RA value 35°) and 9 were indeterminate. Statistically significant differences in the value of the running angle of pMFL type I and of type II were evaluated between two groups with different shaped intercondylar notch (p < 0.05). CONCLUSIONS: The results shown in our study may be useful in medical clinical practice, reconstructive surgery, interpretation of knee MR images as well as genetic research.


Subject(s)
Knee Joint , Ligaments, Articular , Femur/diagnostic imaging , Humans , Lower Extremity , Magnetic Resonance Imaging/methods
2.
Clin Genet ; 85(6): 536-42, 2014 Jun.
Article in English | MEDLINE | ID: mdl-23802866

ABSTRACT

In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.


Subject(s)
I-kappa B Kinase/genetics , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/genetics , Mutation , Chromosomes, Human, X , Female , Genetic Loci , Humans , Incontinentia Pigmenti/pathology , Male , Sex Factors
3.
J Clin Pathol ; 63(7): 657-9, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20591917

ABSTRACT

Incontinentia pigmenti (IP) is a rare X-linked genodermatosis in which skin changes are combined with anomalies of other tissues, mainly of ectodermal origin. Mutations of the IKBKG gene are responsible for IP. Haematological disorders among IP patients are rare. Four female patients from a single family, with typical clinical characteristics of IP, are reported. In addition, all affected family members show a distinct haematological phenotype: hypogranular granulocytes, leucocytes with pseudoplatelets, and different anomalies of nuclei. Pseudoplatelets are a typical finding in patients with leukaemia. As there is dysfunction of the IKBKG gene in leukaemia, it is hypothesised that mis-regulation of the NEMO pathway may cause the appearance of pseudoplatelets in acute leukaemias as well as in IP. These observations suggest that IP may not be only linked to skin and organs of the ectodermal origin.


Subject(s)
Incontinentia Pigmenti/blood , Leukocytes/ultrastructure , Adult , Female , Humans , I-kappa B Kinase/genetics , Incontinentia Pigmenti/genetics , Male , Microscopy, Electron , Middle Aged , Pedigree
4.
Endocrinol Exp ; 24(1-2): 187-93, 1990 Mar.
Article in English | MEDLINE | ID: mdl-2113856

ABSTRACT

The response of TSH, PRL, LH and FSH to combined test with LHRH (Relefact LH-RH, HOECHST; 0.1 mg) and TRH (Relefact TRH, HOECHST; 0.2 mg) was examined before (day I) and after naloxone (Narcanti, DUPONT) bolus of 0.8 mg (day III) in 8 patients with polycystic ovary syndrome (POC) diagnosed by established criteria (hirsutism, oligoamenorrhoea, ultrasound appearance of polycystic ovary and serum LH/FSH greater than 2.0). TSH (RIA-INEP), PRL (MAIA-SERONO), LH (MAIA-SERONO) and FSH (MAIA-SERONO) were determined at -15, 0, 10, 20, 30, 45, 60, 90 and 120 min. The hormone responses were calculated as the areas under hormone curves and tested with Wilcoxon sum rank test. No significant difference was found in the hormone responses before and after naloxone injection. In terms of absolute values lower TSH level was found at 30 min after naloxone administration (14.7 +/- 12.0 vs. 9.73 +/- 7.61; P less than 0.05). In conclusion, our data based on short term naloxone application argue against the significant alteration of the opioid activity in patients with POC.


Subject(s)
Gonadotropin-Releasing Hormone , Naloxone/pharmacology , Pituitary Gland/metabolism , Polycystic Ovary Syndrome/metabolism , Thyrotropin-Releasing Hormone , Adult , Female , Follicle Stimulating Hormone/metabolism , Humans , Luteinizing Hormone/metabolism , Pituitary Gland/drug effects , Prolactin/metabolism , Thyrotropin/metabolism
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