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Biomedical subjects

C De Felice

Publications and source records attributed to C De Felice.

At least 19 recordsLinked to original sources
PubMed2006

Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer.

BACKGROUND: A familial predisposition to colorectal cancer (CRC) has been clearly established, consisting of familial clustering in 15-20% and clear hereditary aetiology in 5-10% of overall CRC cases. Early identification of families and individuals at high risk is essential as intensive surveillance has been demonstrated to reduce cancer incidence and overall mortality. In the present study, the value of oral mucosal light reflectance in identifying hereditary non-polyposis colorectal cancer (HNPCC) carriers was investigated. METHODS: Twenty members of six different genetically unrelated HNPCC kindred and 30 genetically unrelated age and sex matched healthy controls were examined. Lower gingival and vestibular oral mucosal reflectance was measured using an imaging spectrophotometer. RESULTS: HNPCC carriers showed significantly lower values in the 590-700 nm wavelength range (p<or=0.0004). A reflectance cut off value <or=47.9% at the 700 nm wavelength discriminated between HNPCC carriers and controls, with 100% sensitivity and 100% specificity. CONCLUSIONS: These findings may provide an additional phenotypic sign in HNPCC carriers, which could be used in first level CRC population screening programmes.

Adaptor Proteins, Signal Transducing↗
PubMed2005

Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.

BACKGROUND: Germline mutations in mismatch repair (MMR) genes are found in only about half of clinically diagnosed families with hereditary non-polyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality. AIMS: Recent evidence indicates an increase in size and number of sebaceous glands following activation of the hedgehog pathway, a crucial signalling pathway for animal development that is aberrantly activated in several types of cancer. Here we sought to assess a possible association between Fordyce granules (FGs-that is, ectopic sebaceous glands on the oral mucosa) and HNPCC. METHODS: A total of 15 members of five different genetically unrelated HNPCC kindreds (MLH1 gene mutation n = 8; undetectable MLH1 protein at immunochemistry n = 4; clinical diagnosis n = 3) and 630 genetically unrelated age and sex matched healthy controls were examined. Following examination of the oral mucosa surface, subjects were categorised as either FGs positive or FGs negative. RESULTS: Evidence of FGs was significantly associated with HNPCC (13/15 (86.7%) affected patients v 6/630 (0.95%) controls; p<0.0001), with a relative risk of 91.0 (95% confidence interval 40.05-206.76). The observed difference remained significant when carriers of germline mutations in MMR genes were considered (8/15 v 6/630; p<0.0001). The most common site for the FGs in HNPCC patients was the lower gingival and vestibular oral mucosa. CONCLUSIONS: Our findings suggest that a previously unrecognised activation of the sebaceous glands system occurs in HNPCC. The observation could be of value for attending physicians in identifying affected families and/or increase the accuracy of the currently available molecular genetics screenings.

Adaptor Proteins, Signal Transducing↗
PubMed2005

Early postnatal changes in the perfusion index in term newborns with subclinical chorioamnionitis.

BACKGROUND: Chorioamnionitis (HCA) in term newborns is often subclinical and associated with neonatal morbidity and mortality. OBJECTIVE: To assess the value of the pulse oximetry perfusion index (PI) in the early prediction of subclinical HCA in term newborns. METHODS: PI cut-off values were first identified in 51 term newborns with HCA and 115 matched controls, retrospectively categorised on the basis of placental histology (study phase 1). The PI thresholds obtained were subsequently tested on an unselected case series of 329 prospectively recruited, term newborns (study phase 2). PI was evaluated during the first five minutes after delivery. Initial illness severity and short term clinical outcomes were determined. RESULTS: In study phase 1, newborns with HCA had lower PI one and five minutes (p<0.0001) after delivery, lower one minute Apgar score (p = 0.017), lower cord blood base excess (p = 0.0001), together with higher rates of admission to neonatal intensive care unit (p = 0.0001) and endotracheal intubation (p = 0.017), and higher SNAP-PE (p<0.0001) and NTISS (p<0.0001) scores than those without HCA. In the prospective validation phase of the study, the PI cut-off values generated (one minute < or =1.74, five minutes < or =2.18) showed 100% sensitivity, 99.4% specificity, 93.7% positive predictive value, and 100% negative predictive value in identifying subclinical HCA. Early identification of HCA was associated with a decreased rate of admission to intensive care (p = 0.012), as well as lower initial illness severity (p< or =0.0001) and therapeutic intensity (p = 0.0006) than the newborns with HCA in phase 1. CONCLUSION: These findings suggest that early PI monitoring is helpful in identifying HCA in term newborns.

Apgar Score↗
PubMed2004

Fetal short femur length in the second trimester and the outcome of pregnancy.

We reviewed 86 consecutive cases with fetal femur length (FL) below the 10th centile of our reference ranges at midtrimester ultrasonography. Three groups were identified based on perinatal outcome: normal infants (n= 28), newborns with structural and/or chromosomal anomalies (n= 40), small-for-gestational age (SGA) newborns (n= 18). Fetuses with skeletal dysplasias (n= 13) had significantly shorter FL. Aneuploidies were only found in fetuses with malformations other than skeletal dysplasias. The diagnosis of SGA, based on ultrasound abdominal circumference measurement <10th centile, was made 9 weeks (range 5-14) after the finding of a short FL. Half of these cases also developed pre-eclampsia.

Abortion, Induced↗
PubMed2004

Foetal growth of kidneys, liver and spleen in intrauterine growth restriction: "programming" causing "metabolic syndrome" in adult age.

BACKGROUND/AIMS: Epidemiological studies in humans link adult disease to abnormal growth in utero. In addition to general malnutrition of the foetus, preferential blood flow to the brain and heart may furthermore deprive organs such as the liver, spleen and kidneys of oxygen and macro- and micronutrients. As a consequence, these organs may not develop normally, which predisposes the individual to the so-called metabolic syndrome (syndrome X) in later life. The effects of foetal undernutrition on the growth of some abdominal organs were investigated by comparing the volume of the kidneys, spleen and liver in small-for-gestational-age (SGA) newborn infants with that in appropriate-for-gestational-age (AGA) newborn infants. METHODS: In 25 randomly selected AGA infants and 25 SGA infants, who were subdivided into three gestational age groups (<30, 30-36 and 37-40 wk) the volumes of the liver, kidneys and spleen were determined by ultrasonography. Organ volumes were estimated using the standard ellipsoid formula (longitudinal x anteroposterior x transverse diameter x pi/6). Liver/kidney, liver/spleen and kidney/spleen volume ratios were also determined. RESULTS: The volumes of the kidneys and liver differed significantly between AGA and SGA infants in all three gestational age groups (p < 0.0018 and p < 0.029, respectively). The fact that the spleen volume differed only in the 37-40 wk group (p = 0.0002) may indicate that there is a graded relationship across the whole range of normal birthweight. The correlation between the liver volume and birthweight differed significantly between SGA and AGA infants (r = 0.56 vs 0.84, p = 0.04). On the other hand, the volume ratios between the three organs were the same in all groups (p > 0.15). CONCLUSION: In intrauterine growth retarded infants, foetal growth of the liver and kidneys is more impaired than the body as a whole. Retarded foetal development of these organs may cause metabolic dysfunction, which predisposes to the group of diseases included in the so-called metabolic syndrome or syndrome X.

Autopsy↗
PubMed2004

Fumaric acid esters in the treatment of psoriasis: an Italian experience.

BACKGROUND: Psoriasis is a common, chronic, cell-mediated, inflammatory skin disease. Treatment limitations and a developing understanding of its pathogenesis on a molecular level have encouraged much interest in the field of immunomodulatory therapy. OBJECTIVE: To evaluate the efficacy and safety of fumaric acid esters, in particular dimethylfumarate (DMF), in the treatment of moderate to severe plaque psoriasis intolerant and/or resistant to other conventional systemic therapies. METHODS: A total of 40 patients were enrolled in this study. DMF was orally administered at the daily dose of 30 mg up to 360 mg for a minimum of 6 months treatment. Patients were followed-up with psoriasis area and severity index (PASI) score assessment, and clinical and photographic documentation. RESULTS: A total of 33 (82.5%) patients achieved complete clinical remission with DMF treatment: eight after 3 months and 25 after 6 months. Adverse events, such as intolerable abdominal cramps and incoercible diarrhoea, occurred in four patients who, for this reason, interrupted therapy. CONCLUSION: The findings suggest that DMF is a safe, effective and well-tolerated long-term oral treatment worthy of consideration for selective patients.

Adolescent↗
PubMed2004

[Effects of hormonal replacement therapy on breast density in postmenopausal women].

AIM: Recent studies have indicated that conventional hormonal replacement therapy (HRT) is associated with an increase in breast density. The aim of this non randomised prospective study was to evaluate the effects of HRT and Tibolone on breast density in postmenopausal women. METHODS: The study population included 41 healthy women, who were on different HRT regimens and completed their 5-year mammographic follow-up. Before starting HRT, a baseline mammography was performed and repeated at 12-month interval during the follow-up. The patients, 41 healthy postmenopausal women, received 2 different treatments: continuous transdermal estrogen 50 microg/day plus sequential MPA 10 mg/day for 12 days at cycle (21 patients), Tibolone 2.5 mg/day (20 patients). RESULTS: An increase in breast density was present in 25% of women receiving estrogen plus MPA. There was no mammographic breast density increase in Tibolone group; 9.5% of women receiving Tibolone showed reduced breast density. The modifications of breast density were reported during the 1st year of therapy. CONCLUSION: These findings show that different HRT regimens have different effects on breast density. Tibolone does not significantly affect breast density, so it may be a preferable therapy for a larger group of postmenopausal women, including those with a familiar history of breast cancer and those with breast density.

Breast↗
PubMed2003

Status epilepticus and neurodevelopmental outcome at 2 years of age in an extremely low birth weight infant.

Neonatal status epilepticus (SE) is very rare and, to date, very little information exists on SE in preterm infants. Here, we report recurrent SE as a result of hypoxic-ischemic encephalopathy in an extremely low birth weight (ELBW) infant, who had favorable neurodevelopment at a corrected age of 2 years. This clinical observation seems to indicate that recurrent SE does not exclude normal long-term neurodevelopment, even in ELBW infants.

Birth Weight↗
PubMed2003

Minimal handling and bronchopulmonary dysplasia in extremely low-birth-weight infants.

UNLABELLED: Over the last 16 years a minitouch regime, i.e., nasal continuous positive airway pressure (n-CPAP) and/or nasal intermittent positive pressure ventilation (n-IPPV), together with a minimal intubation policy has been routinely used for the treatment of respiratory distress syndrome (RDS) in preterm infants. Only 1.39 (1 out of 72) of the extremely low-birth-weight babies admitted to our Neonatal Intensive Care Unit (NICU) and surviving for at least 36 weeks' postconceptional age developed bronchopulmonary dysplasia at 36 weeks (BPD 36-wk). The BPD-36 wk incidence observed in our population is significantly lower than expected (30%) from the literature (p=0.000002). CONCLUSION: Our experience supports the effectiveness of the minitouch regime as a way to ventilate premature babies, reducing BPD risk.

Birth Weight↗
PubMed2003

Different effects of interferon-alpha on melanoma cell lines: a study on telomerase reverse transcriptase, telomerase activity and apoptosis.

BACKGROUND: Although the antiproliferative and proapoptotic effects of interferon (IFN)-alpha are widely recognized, its antitumour mechanisms are not completely known. Recent studies indicate that the derepressed expression of the catalytic subunit of telomerase, human telomerase reverse transcriptase (hTERT), and telomerase activity (TA) are involved in the process of human carcinogenesis. Only a few studies have investigated the effects of IFN-alpha on hTERT and TA, with controversial results. Objectives To study the hTERT mRNA expression, TA and apoptosis in human melanoma cells treated with IFN-alpha. METHODS: Five human melanoma cell lines (Me665/2/21, Me665/2/60, HT-144, SK-Mel-28 and SK-Mel-5) were cultured in standard conditions and treated with 20000 IU mL-1 of human recombinant IFN-alpha-2b. Apoptosis was evaluated as hypodiploid DNA content determined by flow cytometry, caspase-3/7 activity by enzymatic assay, and poly(adenosine diphosphate-ribose) polymerase cleavage by Western blot analysis. IFN-alpha receptor (IFNA-R) and hTERT mRNA expression levels were evaluated by semiquantitative reverse transcription-polymerase chain reaction. TA was evaluated by a polymerase chain reaction-based telomerase repeat amplification protocol assay. RESULTS: Besides a variable degree of cell proliferation inhibition in all cell lines tested, we found different responses, ranging from no significant effects in SK-Mel-28 cells, to a high degree of apoptosis with no hTERT mRNA expression and TA modification in HT-144 cells, and induction of apoptosis, along with decrease in hTERT mRNA expression and TA in Me665/2/21 cells. No induction of apoptosis was observed in SK-Mel-5 and Me665/2/60 cells, although an early decrease in hTERT mRNA expression, and a minor increase of both hTERT mRNA expression and TA were found, respectively. CONCLUSIONS: Our results suggest that the effects of IFN-alpha on hTERT and TA can result from the induction of apoptosis, but they can also occur through a direct modulation of hTERT. We hypothesize that, depending on the cellular context rather than the IFNA-R status of the targeted cells, IFN-alpha can elicit an apoptotic cell death; furthermore, different pathways of apoptosis, not necessarily involving telomerase, can be put into motion.

Apoptosis↗
PubMed2003

High plasma concentrations of di-(2-ethylhexyl)-phthalate in women with endometriosis.

BACKGROUND: Emerging evidence suggests a potential role for ubiquitous environmental contaminants in the physiopathology of endometriosis. Di-(2-ethylhexyl)-phthalate (DEHP), the most commonly used plasticizer in flexible polyvinylchloride (PVC) formulations, is a widespread environmental contaminant with potentially adverse effects on fertility in animal models. In the present study, we tested the hypothesis that DEHP and/or and its main metabolite, mono-ethylhexyl phthalate (MEHP), play a role in the pathogenesis of endometriosis. METHODS: Specimens of blood and peritoneal fluid were collected in a group of women with endometriosis (n = 55), and in age-matched control women (n = 24). Concentrations of DEHP and MEHP were measured in plasma and peritoneal fluid by using high performance liquid chromatography (HPLC). Differences between groups were tested using the Fisher's exact test, Wilcoxon-test, and Kruskal-Wallis analysis of variance. RESULTS: Endometriotic women showed significantly higher plasma DEHP concentrations than controls (median 0.57 micro g/ml, interquartile range: 0.06-1.23; values range: 0-3.24 versus median 0.18 micro g/ml, interquartile range: 0-0.44; values range: 0-1.03; P = 0.0047) and 92.6% of them had detectable DEHP and /or MEHP in the peritoneal fluid. No significant differences in either the DEHP/MEHP plasma concentrations (P >/= 0.31) or DEHP/MEHP peritoneal fluid concentrations (P >/= 0.66) were observed in the endometriotic patients as a function of the disease stage at the time of diagnosis. CONCLUSIONS: The present findings showed for the first time an association between DEHP plasma concentrations and endometriosis, suggesting a possible role for phthalate esters in the pathogenesis.

Adult↗
PubMed2003

Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome.

BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) (Lynch cancer family syndrome I (LCFS1) and II (LCFS2)) is one of the most common hereditary cancer disorders. HNPCC results from dominantly inherited germline mutations in mismatch repair (MMR) genes, leading to genomic instability and cancer. No predictive physical signs of HNPCC are available to date. AIMS: Increased complexity in tumour associated vascular growth has been reported. Here, we tested the hypothesis that an increased vascular network complexity is a phenotypic marker for LCFS2. METHODS: Fourteen subjects from an LCFS2 kindred (gene carriers, n=5; non-carriers, n=9) and 30 controls were examined. Fractal dimension (D) at two scales (D (1-46), and D (1-15), tortuosity (minimum path dimension, Dmin), and relative Lempel-Ziev complexity (L-Z) of the vascular networks from the lower gingival and vestibular oral mucosa were measured. RESULTS: LCFS2 networks exhibited a significantly increased overall complexity at both larger (D (1-46): 1.82 (0.04) v 1.68 (0.08); p<0.0001) and smaller (D (1-15): 1.51 (0.11) v 1.20 (0.09); p<0.0001) scales, increased destructured randomness (L-Z: 0.77 (0.09) v 0.56 (0.03); p<0.0001), and decreased vessel tortuosity (DMIN: 1.02 (0.03) v 1.07 (0.04); p=0.0005) compared with control patterns. The vascular networks of LCFS2 gene carriers showed higher complexity at the smaller scale (D (1-15): 1.59 (0.12) v 1.47 (0.07); p=0.034), and higher destructured randomness (L-Z: 0.85 (0.11) v 0.73 (0.05); p=0.013) than those of non-carriers. CONCLUSIONS: Increased oral vascular network complexity is a previously unrecognised phenotypic marker for LCFS2, and is related to gene mutation carrier status.

Adult↗
PubMed2003

Exposure to Di(2-ethylhexyl)phthalate in humans during pregnancy. A preliminary report.

BACKGROUND: Di(2-ethylhexyl)phthalate (DEHP), the most commonly used plasticizer, is a widespread ubiquitous environmental contaminant. The potential health hazards from exposure to DEHP and its main metabolite, mono(2-ethylhexyl)phthalate (MEHP), have been well documented. Exposure to DEHP and MEHP in humans at risk, such as pregnant women and human fetuses, has not been tested. METHODS: Plasma DEHP and MEHP concentrations were measured in a total of 24 consecutive mother-infant pairs by high performance liquid chromatography. Associations between DEHP/MEHP and infant characteristics were tested using Fisher's exact test, unpaired t tests and univariate linear regression analysis. RESULTS: Measurable DEHP and MEHP concentrations were found in 17/24 (70.8%) and 18/24 (75%) maternal plasmas, respectively, and in 11/25 (44%) and 18/25 (72.0%) cord samples, respectively. Either DEHP or MEHP were detectable in 21/24 (87.5%) maternal plasmas and 19/25 (76%) cord samples. The mean DEHP concentrations in maternal and cord plasmas were 1.15 +/- 0.81 and 2.05 +/- 1.47 microg/ml, respectively. The mean MEHP concentrations were 0.68 +/- 0.85 and 0.68 +/- 1.03 microg/ml, respectively. No significant correlations were found between maternal and cord blood DEHP, maternal and cord blood MEHP, maternal DEHP and cord blood MEHP, or maternal MEHP and cord blood DEHP plasma concentrations. CONCLUSION: Although the effects of perinatal exposure to phthalates need further research, our findings: (i) confirm the high frequency of DEHP and/or MEHP exposure in human pregnancies; (ii) indicate that the exposure to these environmental contaminants begins during intrauterine life, and (iii) suggest that fetal exposure is closely related to the maternal exposure.

Adult↗
PubMed2003

Newborn hearing screening by transient evoked otoacoustic emissions: analysis of response as a function of risk factors.

Hearing loss can be considered as the most common birth defect. Early detection of hearing loss by screening at, or shortly after, birth and appropriate intervention are critical to speech, language and cognitive development. In the present study, the characteristics of Transient Evoked Otoacoustic Emissions have been evaluated as a function of known pre- and perinatal risk factors for hearing loss. All newborns were screened for hearing loss using a physiologic test of hearing function, the Transient Evoked Otoacoustic Emissions. A total of 532 consecutive newborn infants received binaural Transient Evoked Otoacoustic Emission testing (262 males, 270 females; mean gestational age 39.2 +/- 2.1 weeks, range 26-43; birth weight: 3,240 +/- 550 g, range 910-4,780). The population examined comprised 448 control infants and 84 high-risk for hearing loss infants (Joint Committee on Infant Hearing 1994 criteria). All Transient Evoked Otoacoustic Emission recordings were performed at comparable postconceptional ages. Audiological screening by Transient Evoked Otoacoustic Emission recording showed an overall 100% sensitivity, 99.02% specificity, with negative and positive predictive values of 100% and 62.5%, respectively. As compared to controls, high-risk infants showed: 1. increased rates of Fail-1 (Transient Evoked Otoacoustic Emissions absent at first examination, 21.4% vs 9.8%, p = 0.004), Fail-2 (Transient Evoked Otoacoustic Emissions absent on retesting: 8.64% vs 1.37%, p = 0.0014), false positives (Transient Evoked Otoacoustic Emissions absent/V wave present: 3.7% vs 0.46%, p = 0.029) and true positives (Transient Evoked Otoacoustic Emissions absent, V wave absent: 2.47% or 24.5 per 1,000 live births vs 0.22% or 2.2 per 1,000 live births, p = 0.013); 2. significantly reduced Transient Evoked Otoacoustic Emission intensity in the 0.7-1 kHz (right side) and 1-2 kHz (left side) frequency ranges. Multivariate logistic regression analysis showed a significant positive correlation between congenital hearing loss and the following risk factors: assisted ventilation lasting > 10 days (Odds ratio 14.8; 95% confidence interval, 4.5-48.8, p < 0.000001), severe birth asphyxia (Odds ratio 5.8; 95% confidence interval; 2.1-16.1; p = 0.0006) and administration of ototoxic drugs (Odds ratio 4.5; 95% confidence interval; 1.4-13.9; p = 0.009). Results of this study confirm the feasibility and accuracy of universal neonatal hearing screening based on recording Transient Evoked Otoacoustic Emissions. These data stress the importance of the risk factors for hearing loss, including prolonged assisted ventilation, ototoxic drugs, and severe birth asphyxia.

Acoustic Stimulation↗
PubMed2003

Three-dimensional sonography and hysterosalpingosonography in the diagnosis of uterine anomalies.

Uterine anomalies implicated in female subfertility, implantation failure and miscarriages can often be detected often by two-dimensional transvaginal (2D TV) ultrasound scanning. When used as a screening test TV ultrasound has provided sensitivity rates of up to 100% about uterine anomalies. Improved depiction has been achieved with the development of hysterosalpingosonography (HSSG). The anechoic interface provided by the saline solution allows the examiner to determine whether an abnormality is intracavitary, endometrial, or submucosal. The aim of this study was to evaluate the role of 2D TV contrast sonography and 3D TV ultrasound in the diagnosis of congenital uterine anomalies in comparison with their appearance of hysterosalpingosonography findings.

Adolescent↗
PubMed2002

Quantitative in situ evaluation of telomeres in fluorescence in situ hybridization-processed sections of cutaneous melanocytic lesions and correlation with telomerase activity.

BACKGROUND: Telomere length is correlated with cellular ageing and immortalization processes. In some human cancers telomere length measurement has proved to be of diagnostic and prognostic value. Results comparable with the traditional terminal restriction fragment length determination by Southern blotting have been obtained in metaphase and interphase cells in some studies by fluorescence in situ hybridization (FISH) analysis; FISH additionally allows for the quantification of telomeres at the cellular level. OBJECTIVES: In this study, 32 melanocytic lesions were analysed by FISH, aiming at investigating possible telomere differences among various benign and malignant lesions and correlation with telomerase activity (TA) level. METHODS: FISH was performed on paraffin sections from six common naevi, eight Spitz naevi, 12 melanomas, six melanoma metastases and nine control samples of normal skin. Telomere mean maximum diameter (Feret max), area and number per nuclear area were calculated by image analysis on fluorescent images elaborated through KS400 and in situ imaging system (ISIS) for FISH analysis programs. Mean TA level was also calculated in all lesions and correlated with telomere parameters. RESULTS: Telomere number per nuclear area was significantly lower in melanomas and metastases than in benign common and Spitz naevi and in control skin (7 small middle dot24 +/- 3.3; 6.11 +/- 3 vs. 14.46 +/- 5.6; 16.92 +/- 7.8; and 12.59 +/- 3.4, respectively; P < 0 .001). No significant differences were found for the other telomere parameters. In common and Spitz naevi, telomere number was positively correlated with Feret max (P = 0.046 and P < 0.0001, respectively). TA was significantly higher in melanomas and metastases than in the other groups (70.18 +/- 25.2; 105.07 +/- 30 vs. 2.16 +/- 2.4; 2 .99 +/- 2.1; 2 +/- 1.2, respectively; P< or = 0. 001) and it was inversely correlated with telomere number per nuclear area in melanomas (P = 0.0041). No other significant correlations were found. CONCLUSIONS: Encouraging results have been obtained from quantitative telomere evaluation in the diagnosis of melanocytic lesions, although an analysis of a larger number of cases would be necessary to provide more reliable data. An extreme shortening of some telomeres probably results in the decrease of telomeric signals and the lower mean number of detectable telomeres in melanomas and metastases. In melanomas, telomere number per nuclear area is also inversely correlated with TA levels. Quantitative FISH of melanocytic lesions could give more specific information at the cellular level in telomere and telomerase fields of investigation.

Case-Control Studies↗
PubMed2001

Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.

The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.

Adolescent↗