131 research outputs found
Fetal short femur length as a minor marker for fetal aneuploidies, skeletal dysplasia and intrauterine growth restriction: risk stratification for isolated and not isolated finding in different gestational age
No full textIntroduction. Fetal short femur is defined by a femur length below the 5th percentile or -2 DS for the gestational age. The finding of a short femur represents a diagnostic dilemma for the various differential diagnosis. It may be associated with skeletal dysplasia, aneuploidies or genetic syndromes. In the isolated form, it may be an early sign of placental insufficiency and growth delay, or a normal variant in constitutionally small fetuses.
Aims of the study: The aim of this study was: to examine postnatal outcome of pregnancies complicated by a short femur length; to compare outcomes in pregnancies with an early diagnosis of short FL ( 25 weeks of gestation); to analyse outcome differences in isolated and non-isolated form. A secondary aim of our research was a proposal of a diagnostic algorithm as a tool to guide clinicians in the management and counselling of pregnancy with isolated and not isolated short femur length. For this purpose, a revision of current literature data on the argument was carried out.
Materials and Methods: A longitudinal prospective cohort study was conducted. All singleton pregnancies with a diagnosis of fetal femur < 5 centile were enrolled in the study. Patients were divided into two groups: patients with diagnosis of FL < 5th percentile at 14-24 weeks (group A) and at 25-40 weeks (group B). The differences in pregnancy complications and outcomes between the two groups were analysed. A comparison of the results of isolated and non-isolated forms was also carried out. For the secondary aim of our study we reviewed the literature and used meta-analytic technique to estimate accuracy of this marker in the prediction of Down Syndrome, IUGR and skeletal dysplasia. Correlation with poor perinatal outcome was also evaluated.
Results: We enrolled 147 cases of short femur length in singleton pregnancies. In 61 (41,49%) cases short femur was associated to other fetal anomalies, in 86/147 fetuses (58,5%) was classified as isolated. Abnormal fetal karyotype (27,3% vs 3.7% p: 0.02) and skeletal dysplasia (19,7% vs 3.7% p: 0.002) were more frequent in group A. Cases of multiple abnormalities was diagnosed in 9 cases in group A and in 6 cases in group B with a difference not statistically significant (13.6% vs 7.4% p < 0.193). Diagnosis of isolated short femur was more common in group B (79% vs 33,4%, p: 0.000). In group B diagnosis of IUGR was made in 44.4% vs 19.7% of group A (p:0.002). The SGA prevalence had a difference statistically significant between the two groups (7.6% vs 24.7% p:0.007). The percentage of live birth was significant lower than group B (34.8% vs 97,6%). A comparison based on presence of an isolated short femur and not isolate finding (Group 1: Isolated - Group 2 not isolated) was also carried out. Abnormal fetal karyotype and (24,6% vs 7,0% p: 0.004), skeletal dysplasia (24,6% vs 1.2% p: 0.004) were more frequent in non-isolated group. Diagnosis of IUGR and SGA was more common in isolated group (47,7% vs 13,1%, p: 0.000, 25,6% vs 4,9% p 0.001) (table 4). The percentage of live birth was significant lower in not isolated group (45.9% vs 86% p 0.00). A higher incidence of neonatal complication, postnatal surgery and neonatal death were notice in not isolated group compared to isolated (57,69% vs17.45% p 0.019; 27,92% vs 4,2% p:0.003).
Meta-analysis showed a higher incidence of short femur length in Down Syndrome fetuses (375/1326 28,2%) compared with euploid group (5809/188935, 3.07%) with an OR 5.12 (95% CI, 4.47-5.87). A higher incidence of IUGR/SGA was found in isolated short femur (455/3108, 14,6%) compared with the control group (11634/222362, 5.23%) with an OR of 4.12 (CI 95% 3.70-4.58).
Conclusions. The diagnosis of short FL is often a challenge in obstetrics. The results of our study could help clinicians in counseling these patients in presence of this ultrasound findings. The diagnosis of a non-isolated short femur length before 24 weeks of gestation is associated to poor pregnancy outcome. When a short femur arises late in gestation and in isolated form, pregnancy outcome is better in term of chromosomal abnormalities but high rate of IUGR, SGA and neonatal complication is possible
Use of next generation sequencing for isolated and syndromic Anophthalmia, Microphthalmia and Coloboma (MAC): a new approach to molecular genetic diagnosis
No full textABSTRACT: Use of Next Generation Sequencing for isolated and syndromic Anophthalmia, Microphthalmia and Coloboma (MAC): a new approach to molecular genetic diagnosis
Department in Cellular Biotechnologies and Hematology
PhD in Human Biology and Medical Genetics
Supervisor: Prof. Pizzuti Antonio
Correlator: Prof. Novelli Antonio
Phd student: Dott. Iapichino Giuseppe
In these last few years, both mendelian and complex diseases have reached a higher level of accuracy in the analytical process, with a more efficient diagnostic definition and also a more detailed genotype-phenotype correlation. Complex syndromic pathologies, such as microphthalmia and anophthalmia, often accompanied by complex clinical pictures, and characterized by a high level of genetic and phenotypic heterogeneity, can now be handled in a faster and thorough manner. Currently, national or international shared guidelines have yet to be defined and a phenotypic or genetic classification of these diseases is still missing. Similarly to what happens for most rare diseases, the diagnostic and care management of children with ocular syndromes suffers heavily from the absence of strong scientific knowledge that would help in the development of shared guidelines, mainly because the phenotypic heterogeneity of these diseases is massive. The aim of this project was to carefully investigate the genes involved in microphthalmia, anophthalmia, coloboma and related syndromic diseases using Next Generation Sequencing. This new molecular approach allows to make a massive sequencing of different genomic regions. The possibility to analyze millions of sequencing reactions in parallel at very reduced costs, with shorter processing times and very little amounts of initial DNA, has provided a formidable boost for the study of rare diseases. In the present study, a panel of different genes involved in the ocular development has been designed to simultaneously and rapidly analyze multiple ocular genes of a patient by using the Illumina-Nextseq 500 platform. NGS allowed us to analyze several genes for a given patient and to identify variants both in genes directly involved in the pathogenesis of anophthalmia, microphthalmia and coloboma, both in genes not directly implicated in syndromic or isolated MACs. This allowed us to understand at a molecular level many of those phenotypes described as shaded, atypical or not perfectly defined in a specific syndrome. In this regard, the continuous interaction with the referring physicians has been fundamental in our study, highlighting the importance of the collaboration between the lab scientist and the clinical geneticist that will eventually help to find a link between the phenotypes described and the many variants still to be identified
Carbamazepine-induced eruption histologically mimicking mycosis fungoides
No full textCarbamazepine is an important drug used in the management of seizures, trigeminal neuralgia, and chronic pain syndromes. It has been associated with a variety of adverse skin reactions including urticaria, lichenoid eruptions, erythroderma, erythema multiforme, Stevens-Johnson syndrome, and toxic epidermal necrolysis. A 39-year-old white male had been started on carbamazepine for intractable pain which resulted from a right foot crush injury. Approximately 3 months after the start of therapy, the patient had developed a generalized skin eruption following an entire day of sun exposure. Skin biopsies revealed an atypical lymphoid infiltrate in the dermis with collections of the atypical lymphocytes within spongiotic vesicles in the epidermis, suggestive of mycosis fungoides. The patient was treated with systemic prednisone. Subsequent biopsies failed to reveal atypical lymphocytes. Previous reports have described spongiotic eruptions with foci of atypical lymphocytes in contact dermatitis and in patients treated with phenytoin. To the best of our knowledge, this is the first reported case of a carbamazepine-induced eruption simulating mycosis fungoides histologically
LICHENOID DRUG ERUPTION SECONDARY TO PROPRANOLOL
No full textPropranolol, a widely prescribed beta-adrenergic receptor blocker, has occasionally been associated with adverse cutaneous reactions. We present a case of ulcerative lichenoid drug eruption of the penis secondary to propranolol therapy. This unusual clinical presentation has not been described previously in the literature
Unusual presentation of cutaneous metastatic malignant melanoma
No full textThis report describes an unusual presentation of cutaneous metastases suspected to have occurred through lymphatic spread in a patient with malignant melanoma. Punctate papular skin lesions correlated histologically with small tumor foci in the papillary dermis
Superficial granulomatous pyoderma
No full textSuperficial granulomatous pyoderma, recently described as a variant of pyoderma gangrenosum, would be better termed pathergic granulomatous cutaneous ulceration as the seven previously described cases, as well as our own two cases, have significant dermal involvement histologically and heal with scarring. In contrast to pyoderma gangrenosum, lesions of superficial granulomatous pyoderma respond to less toxic anti-inflammatory agents
Asymptomatic esophageal squamous cell carcinoma masquerading as a rare primary pancreatic carcinoma. Diagnosis by percutaneous fine needle aspiration
No full textAn unusual case of asymptomatic squamous cell carcinoma of the esophagus metastatic to the pancreas, mimicking a rare primary pancreatic neoplasm, is reported. Percutaneous fine needle aspiration (FNA) biopsy of a pancreatic lesion showed squamous cell carcinoma, which in the pancreas is virtually always metastatic in origin. This prompted a search for an occult primary elsewhere, resulting in the discovery of an esophageal neoplasm, which in itself is one of the least likely sources of pancreatic metastases. FNA biopsy was thus a useful and accurate diagnostic tool in establishing the true nature of the pancreatic neoplasm, sparing the patient unnecessary pancreatic surgery, with its attendant morbidity and hospital costs
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