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1.
Reumatismo ; 76(1)2024 Mar 22.
Article in English | MEDLINE | ID: mdl-38523583

ABSTRACT

OBJECTIVE: Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case. METHODS: We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals. RESULTS: The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain. CONCLUSIONS: Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.


Subject(s)
Melorheostosis , Adolescent , Humans , Melorheostosis/complications , Melorheostosis/surgery , Melorheostosis/diagnosis , Pain , Pain Management , Treatment Outcome , Rare Diseases
2.
J Endocrinol Invest ; 43(3): 399, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31559585

ABSTRACT

Unfortunately, the 13th author name has been published incorrectly in the original publication.

3.
J Endocrinol Invest ; 43(2): 231-245, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31486992

ABSTRACT

PURPOSE: Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is genetically heterogeneous being associated with mutations in different genes, including MEN1, CDC73, CASR, and recently GCM2. The aim of the study was to further investigate the molecular pathogenesis in Italian FIHP kindreds. METHODS: We used whole exome sequencing (WES) in the probands of seven unrelated FIHP kindreds. We carried out a separate family-based exome analysis in a large family characterized by the co-occurrence of PHPT with multiple tumors apparently unrelated to the disease. Selected variants were also screened in 18 additional FIHP kindreds. The clinical, biochemical, and pathological characteristics of the families were also investigated. RESULTS: Three different variants in GCM2 gene were found in two families, but only one (p.Tyr394Ser), already been shown to be pathogenic in vitro, segregated with the disease. Six probands carried seven heterozygous missense mutations segregating with the disease in the FAT3, PARK2, HDAC4, ITPR2 and TBCE genes. A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis. CONCLUSION: We confirm the role of GCM2 germline mutations in the pathogenesis of FIHP, although at a lower rate than in the previous WES study. Further studies are needed to establish the prevalence and the role in the predisposition to FIHP of the novel variants in additional genes.


Subject(s)
Exome Sequencing/methods , Genetic Variation/genetics , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/genetics , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Pedigree , Young Adult
4.
J Transl Med ; 17(1): 187, 2019 06 03.
Article in English | MEDLINE | ID: mdl-31159827

ABSTRACT

BACKGROUND: Tumors develop by progression through a series of stages. Every cell of the tumor microenvironment is constantly changing in the flow of the cancer progression. It has become clear in recent years that stroma is essential for tumor maintenance and growth. Here, we aimed to give a chronological order of gene expression changes given in the dynamical framework of microinvasive breast cancer microenvironment. METHODS: RNA-seq was performed on seven microinvasive breast cancers. For each of them we microdissected seven different portions of the tumor, four related to the breast epithelium and three to the stroma. Breast epithelium was chronologically subdivided in normal breast epithelium (NBE), carcinoma in situ (CIS), emerging invasive fingers (EIF) and invasive breast cancer (IBC). For each of the breast epithelium subdivisions we collected the adjacent stroma (S): S-NBE, S-EIF and S-IBC. RESULTS: The overall differentially expressed genes (DEGs) in all the compartments were analysed and evaluated to understand the pathways involved in tumor progression. Then we analysed the DEGs of the epithelial and stromal portions in comparison with the normal portions. We observed that the stromal cells are necessary for the development and the maintenance of the tumor, especially in tumor progression. Moreover the most important genes involved in the main metabolic pathways were analysed and the communications within the different cell compartments were highlighted. CONCLUSIONS: As a future perspective, a deeply study of the identified key genes, particularly in the stromal cells, will be crucial to develop an anticancer therapy that is undergoing a conversion from a cancer cell-centric strategy to a stroma-centric strategy, more genomically stable.


Subject(s)
Breast Neoplasms/genetics , Breast Neoplasms/pathology , Carcinoma, Intraductal, Noninfiltrating/genetics , Carcinoma, Intraductal, Noninfiltrating/pathology , Tumor Microenvironment/genetics , Breast/metabolism , Breast/pathology , Disease Progression , Female , Gene Expression Profiling , Gene Expression Regulation, Neoplastic , High-Throughput Nucleotide Sequencing , Humans , Metabolic Networks and Pathways/genetics , Neoplasm Invasiveness , Neoplasm Staging , Sequence Analysis, RNA , Stromal Cells/pathology
5.
J Neurooncol ; 126(2): 265-70, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26511493

ABSTRACT

Glioblastoma is the most common and aggressive malignant primary brain tumor. Despite decades of research and the advent of new therapies, patients with glioblastoma continue to have a very poor prognosis. Radiation therapy has a major role as adjuvant treatment for glioblastoma following surgical resection. Many studies have shown that polymorphisms of genes involved in pathways of DNA repair may affect the sensitivity of the cells to treatment. Although the role of these polymorphisms has been investigated in relation to response to radiotherapy, their role as predisposing factors to glioblastoma has not been clarified yet. In the present study, we evaluated the association between polymorphisms in DNA repair genes, namely: XRCC1 rs25487, XRCC3 rs861539 and RAD51 rs1801320, with the susceptibility to develop glioblastoma. Eighty-five glioblastoma patients and 70 matched controls were recruited for this study. Data from the 1000 Genomes Project (98 Tuscans) were also downloaded and used for the association analysis. Subjects carrying RAD51 rs1801320 GC genotype showed an increased risk of glioblastoma (GC vs GG, χ(2) = 10.75; OR 3.0087; p = 0.0010). The C allele was also significantly associated to glioblastoma (χ(2) = 8.66; OR 2.5674; p = 0.0032). Moreover, RAD51 rs1801320 C allele increased the risk to develop glioblastoma also when combined to XRCC1 rs25487 G allele and XRCC3 rs861539 C allele (χ(2) = 6.558; p = 0.0053).


Subject(s)
Brain Neoplasms/genetics , DNA Repair , Glioblastoma/genetics , Polymorphism, Single Nucleotide , Rad51 Recombinase/genetics , Aged , DNA-Binding Proteins/genetics , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Risk Factors , X-ray Repair Cross Complementing Protein 1
12.
J Bodyw Mov Ther ; 26: 481-491, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33992285

ABSTRACT

BACKGROUND: Literature concerning the effect of diaphragm treatment to reduce neck pain symptoms is scarce. Aim of this trial was to investigate the effects of diaphragm manual therapy associated with standard physiotherapy treatment on pain in patients with Chronic Neck Pain (CNP). METHODS: In a private practice clinic, subjects with CNP were randomly assigned to receive three 30-min treatment sessions of standard cervical physiotherapy and Diaphragm Manual Therapy (DMT) or Sham Diaphragm Technique (SDT). Participants and assessors were blinded to the assignment. Primary outcome was pain, secondary outcomes were cervical active range of motion, pain pressure threshold, disability and quality of life measured at baseline, before and after each session, at 3 and 6-months. Adverse events were monitored. A non-parametric multivariate approach (combined permutation test) was applied to assess the effect of the treatment on all the outcomes. An intention to treat analysis was performed. RESULTS: Forty patients were randomly allocated to DMT and SDT groups. Combined permutation test showed a significant higher improvement in DMT group compared to SDT group (p-value = 0.0002). The between-group comparisons on single outcomes showed a statistically significant improvement only for pain pressure threshold on upper trapezius (adjusted p-value = 0.029). No adverse events related to the intervention were registered. CONCLUSIONS: In patients with CNP, addition of diaphragm manual techniques to standard cervical treatment seems to give a better global outcome, but this improvement is of unclear clinical relevance; the primary outcome seems not to have a role. Further studies are needed to confirm and clarify these results. TRIAL REGISTRATION: Release Date: July 18, 2017 Registered in ClinicalTrial.gov database ID: NCT03223285A.


Subject(s)
Chronic Pain , Musculoskeletal Manipulations , Chronic Pain/therapy , Diaphragm , Humans , Neck Pain/therapy , Physical Therapy Modalities , Quality of Life , Treatment Outcome
13.
Inhal Toxicol ; 21(11): 906-12, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19459774

ABSTRACT

Cigarette smoke is a complex mixture of various toxic substances that are capable of initiating oxidative damage and promoting blood platelet alterations. In this study, we investigated the activities of the ectoenzymes NTPDase (ectonucleoside triphosphate diphosphohydrolase, CD39) and 5'-nucleotidase (CD73) in platelets as well as adenosine deaminase (ADA) in the plasma of rats exposed to aged and diluted sidestream smoke during 4 weeks. The rats were divided into two groups: I (control) and II (exposed to smoke). After the exposure period, blood was collected and the platelets and plasma were separated for enzymatic assay. The results demonstrated that NTPDase (with ATP as substrate) and 5'-nucleotidase (AMP as substrate) activities were significantly higher in group II (p < 0.05) as compared to group I, while no significant difference was observed for NTPDase with ADP as substrate. The ADA activity was significantly reduced in group II (p < 0.05) as compared with group I. Platelet aggregation was significantly increased in group II (p < 0.05) as compared with group I. We suggest that these alterations in the activity of enzymes from the purinergic system are associated with an increase in platelet aggregation. However, our study has demonstrated that the organism tries to compensate for this enhanced aggregation by increasing hydrolysis of AMP and reducing hydrolysis of adenosine, a potent inhibitor of aggregation and an important modulator of vascular tone.


Subject(s)
Adenosine Deaminase/metabolism , Adenosine Triphosphatases/metabolism , Tobacco Smoke Pollution/adverse effects , 5'-Nucleotidase/blood , Adenosine/blood , Animals , Blood Gas Analysis , Blood Platelets/enzymology , Carboxyhemoglobin/metabolism , Hydrogen-Ion Concentration , Lung/enzymology , Lung/pathology , Male , Platelet Aggregation/drug effects , Pulmonary Fibrosis/chemically induced , Pulmonary Fibrosis/pathology , Rats , Rats, Wistar , Nicotiana/chemistry
14.
Occup Environ Med ; 63(1): 33-8, 2006 Jan.
Article in English | MEDLINE | ID: mdl-16361403

ABSTRACT

AIMS: The authors investigated associations of work related risk factors with self perceived health as less than "good" and psychological distress among Italian women flight attendants. METHODS: The authors conducted a cross sectional survey on health and mental health among 1955 former and current flight attendants, using a postal questionnaire. RESULTS: More current than former flight attendants reported self perceived health as fair to poor and psychological distress measured as a GHQ-12 score of six or more. Among current flight attendants, reporting health as fair to poor was associated with low job satisfaction (OR 1.89) and recent experiences of sexual harassment by passengers (OR 2.83). Psychological distress was associated with low job satisfaction (OR 2.38) and frequent tension with partner over childcare (OR 1.79). CONCLUSIONS: Perceived health as fair to poor and psychological distress were greater among current flight attendants and were related to job characteristics and family difficulties. Perceived poor health has been shown in the literature to be related to mortality, high job strain, and early retirement, and psychological distress is associated with work absence. The effect of sexual harassment by passengers on perceived health of flight attendants may be relevant to other working women dealing with the public. The health effects of family/work conflicts, low job satisfaction, and sexual harassment should be explored more in depth, using qualitative as well as quantitative methods among working women in various occupations.


Subject(s)
Aerospace Medicine , Occupational Diseases/etiology , Stress, Psychological/etiology , Adult , Age Distribution , Aged , Cross-Sectional Studies , Female , Health Status , Health Status Indicators , Humans , Italy/epidemiology , Job Satisfaction , Middle Aged , Occupational Diseases/epidemiology , Risk Factors , Sexual Harassment , Stress, Psychological/epidemiology , Women, Working/psychology
15.
Arch Gen Psychiatry ; 55(10): 936-40, 1998 Oct.
Article in English | MEDLINE | ID: mdl-9783565

ABSTRACT

BACKGROUND: The heritability of interindividual variation in anxiety and other aspects of personality establishes that variants of genes influence these traits. A functional polymorphism in the promoter of the human serotonin transporter gene (SLC6A4*C) was identified and found to be linked to an anxiety-related personality trait, Neuroticism. The polymorphism affects gene transcription and, ultimately, gene function. We have attempted to confirm the role of SLC6A4*C in anxiety-related personality traits by sibpair analysis and association studies. METHODS: Sibpair linkage analysis and association study were performed in 655 Finns. The index cases were 182 alcoholic criminal offenders, through which 258 relatives were ascertained to obtain 366 sibpairs. In addition, 215 unrelated population controls were collected. Each individual was psychiatrically interviewed, blind-rated for DSM-III-R diagnoses, and assessed with the Tridimensional Personality Questionnaire. RESULTS: The sibpair analysis revealed a positive linkage between SLC6A4*C and the 2 anxiety-related subdimensions of Harm Avoidance: HA1 (Anticipatory Worry) and HA2 (Fear of Uncertainty) (P = .003). However, there was no consistent association between SLC6A4*C and any Tridimensional Personality Questionnaire trait. CONCLUSIONS: In the present study we replicated the relationship of SLC6A4*C to anxiety by sibpair linkage analysis but found no evidence of association, raising the question of whether SLC6A4*C locus is itself affecting anxiety or is linked to another still unknown functional variant.


Subject(s)
Anxiety/genetics , Carrier Proteins/genetics , Membrane Glycoproteins/genetics , Membrane Transport Proteins , Nerve Tissue Proteins , Personality/genetics , Promoter Regions, Genetic/genetics , Serotonin/genetics , Alcoholism/genetics , Carrier Proteins/physiology , Crime , Genetic Linkage , Humans , Membrane Glycoproteins/physiology , Polymerase Chain Reaction , Polymorphism, Genetic , Promoter Regions, Genetic/physiology , Serotonin/physiology , Serotonin Plasma Membrane Transport Proteins , Transcription, Genetic/physiology
16.
J Invest Dermatol ; 104(3): 438-40, 1995 Mar.
Article in English | MEDLINE | ID: mdl-7861014

ABSTRACT

We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa. In this study, we searched for mutations in dominant dystrophic epidermolysis bullosa using polymerase chain reaction amplification of segments of COL7A1, followed by heteroduplex analysis. Examination of the polymerase chain reaction corresponding to exon 73 revealed a heteroduplex resulting from a G-to-A transition at nucleotide 6127 in the triple-helical domain of COL7A1, which converted a glycine residue to an arginine (G2043R). The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils.


Subject(s)
Arginine/genetics , Collagen/genetics , Epidermolysis Bullosa Dystrophica/genetics , Glycine/genetics , Point Mutation , Base Sequence , DNA , Female , Genes, Dominant , Humans , Male , Molecular Sequence Data , Nucleic Acid Heteroduplexes , Pedigree
17.
J Invest Dermatol ; 106(4): 679-84, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8618004

ABSTRACT

Recessive dystrophic epidermis bullosa is ultrastructurally characterized by the absence of anchoring fibrils, and genetic analyses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen gene (COL7A1). The mutations disclosed thus far are largely family specific, with no evidence for mutational hotspot(s). In this study, we report a recurrent premature termination codon mutation detected in two apparently unrelated Italian families in different regions of the country. This mutation, 497insA in exon 4 of COL7A1, was found in combination with two different premature termination codon mutations in these families. Haplotype analysis suggested a shared genetic background in the allele containing the mutation 497insA, suggesting that this genetic lesion may represent an ancestral mutation within the Italian gene pool.


Subject(s)
Collagen/genetics , Epidermolysis Bullosa Dystrophica/genetics , Mutation , Adult , Base Sequence , Female , Haplotypes , Humans , Italy , Male , Molecular Sequence Data , Pedigree
18.
J Invest Dermatol ; 105(3): 357-60, 1995 Sep.
Article in English | MEDLINE | ID: mdl-7665912

ABSTRACT

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14 cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany and Italy using 11 polymorphic microsatellite markers and found no evidence for genetic heterogeneity. We observed complete cosegregation between HHD and marker D3S1587, with a maximal lod score of 4.54. Detailed haplotype analyses allowed us to narrow the interval containing the HHD locus to 5 cM, flanked by D3S1589 and D3S1290.


Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 3 , Pemphigus, Benign Familial/genetics , Genetic Linkage , Genetic Markers , Humans , Pedigree
19.
J Invest Dermatol ; 112(1): 32-5, 1999 Jan.
Article in English | MEDLINE | ID: mdl-9886260

ABSTRACT

Psoriasis is a chronic inflammatory dermatitis, affecting approximately 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q, and 20p; however, the most significant results and confirmation of linkage are only available for the 17q and 6p chromosome regions at present. In this study, 22 multiplex Italian families were investigated for linkage to 6p and 17q susceptibility regions, using a set of four microsatellites. These analyses failed to detect significant linkage with any of the examined markers. A genome-wide scan was then performed on one of the largest pedigrees, searching for an additional susceptibility locus. This study disclosed a putative linkage to chromosome 1cen-q21 markers. When these microsatellites were analyzed in the remaining families of the sample, a significant linkage was observed using both parametric and non-parametric methods. The highest two-point lod score value was obtained with D1S305 marker (3.75 at 0 = 0.05). Non-parametric analysis at this locus also demonstrated a significant excess of allele sharing (p = 0.0001).


Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 1 , Genetic Predisposition to Disease , Psoriasis/genetics , Female , Genetic Linkage , Haplotypes , Humans , Italy , Male
20.
J Invest Dermatol ; 116(1): 182-7, 2001 Jan.
Article in English | MEDLINE | ID: mdl-11168815

ABSTRACT

In this study we describe six Italian patients presenting an unusually mild variant of non-Herlitz junctional epidermolysis bullosa associated with a reduced expression of type XVII collagen. All patients are homozygous for a novel nonsense mutation (R795X) within exon 33 of COL17A1 and show a common haplotype, attesting propagation of an ancestral allele within the Italian population. Analysis of patients' COL17A1 transcripts showed the presence of two mRNA species: a normal-sized mRNA carrying mutation R795X that undergoes rapid decay, and a transcript generated by in-frame skipping of exon 33. Patients keratinocytes were shown to synthesize minute amounts of type XVII collagen, which appeared correctly localized along the cutaneous basement membrane. We therefore suggest that the exon 33-deleted COL17A1 splice variant encodes for type XVII collagen molecules that maintain a functional role and account for the mild phenotype of our patients.


Subject(s)
Collagen/genetics , Epidermolysis Bullosa, Junctional/genetics , Adult , Alternative Splicing , Blotting, Northern , Codon, Nonsense , Epidermolysis Bullosa, Junctional/epidemiology , Female , Haplotypes , Humans , Italy/epidemiology , Male , Middle Aged , RNA, Messenger/metabolism , Transcription, Genetic
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