Mandibulofacial dysostosis : a case report

A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved reporting because of the tender age of the patient. Most reported cases were in considerably older patients. Moreover this is presumably the first case to be described in Malta. The syndrome is described as having clearly established hereditary characters. It is inherited as an autosomal dominant trait with variable penetrance. This variability in penetrance of the gene is shown by the fact that the features of the parents of this child do not show any abnormalities.peer-reviewe

A Case of Metastatic Atypical Neuroendocrine Tumor with ALK Translocation and Diffuse Brain Metastases.

A challenge in precision medicine requires identification of actionable driver mutations. Critical to such effort is the deployment of sensitive and well-validated assays for mutation detection. Although identification of such alterations within the tumor tissue remains the gold standard, many advanced non-small cell lung cancer cases have only limited tissue samples, derived from small biopsies or fine-needle aspirates, available for testing. More recently, noninvasive methods using either circulating tumor cells or tumor DNA (ctDNA) have become an alternative method for identifying molecular biomarkers and screening patients eligible for targeted therapies. In this article, we present a case of a 52-year-old never-smoking male who presented with widely metastatic atypical neuroendocrine tumor to the bones and the brain. Molecular genotyping using DNA harvested from a bone metastasis was unsuccessful due to limited material. Subsequent ctDNA analysis revealed an ALK translocation. The clinical significance of the mutation in this particular cancer type and therapeutic strategies are discussed.Key pointsTo our knowledge, this index case represents the first reported ALK translocation identified in an atypical carcinoid tumor.Liquid biopsy such as circulating tumor DNA is a feasible alternative platform for identifying sensitizing genomic alterations.Second-generation ALK inhibitors represent a new paradigm for treating ALK-positive patients with brain metastases

New Variant of the Treatment of Acromion-Clavicular Dislocation With TightRope ® System in a Mini - Open Approach: A Preliminary Clinical Study

Background: Many different surgical techniques have been described to stabilize the acromion-clavicular (AC) dislocations. So far many of these procedures are performed only in arthroscopy. Objectives: In this study, we describe a new technique that utilizes the tightrope with a mini-invasive open approach for the acute stabilization of the acromion-clavicular joint (ACJ) dislocation. Patients and Methods: We set an prospective study aimed to verify the efficacy of this new surgical technique. We treated 28 patients with acute ACJ dislocation with ACJ TightRope ® System with dual mini access. We retrospectively reviewed the data of 34 patients treated with arthroscopic technique. They were considered as the control group. Results: At 6 month’s follow-up, all the 28 patients showed a stable joint during clinical examination and obtained an average Constant score of 98.62/100, with a complete recovery of ROM and strength in abduction. The mean operation time was of 33.7 minutes. The mean recovery duration was 102.8 days. No significant difference was found between the experimental and control groups (P > 0.05). Conclusions: Results of this trial suggest the effectiveness of this new mini-invasive surgical technique in producing clinical and functional recovery in patients with ACJ dislocations

Non alcoholic fatty liver disease and eNOS dysfunction in humans

Background: NAFLD is associated to Insulin Resistance (IR). IR is responsible for Endothelial Dysfunction (ED) through the impairment of eNOS function. Although eNOS derangement has been demonstrated in experimental models, no studies have directly shown that eNOS dysfunction is associated with NAFLD in humans. The aim of this study is to investigate eNOS function in NAFLD patients. Methods: Fifty-four NAFLD patients were consecutively enrolled. All patients underwent clinical and laboratory evaluation and liver biopsy. Patients were divided into two groups by the presence of NAFL or NASH. We measured vascular reactivity induced by patients' platelets on isolated mice aorta rings. Immunoblot assays for platelet-derived phosphorylated-eNOS (p-eNOS) and immunohistochemistry for hepatic p-eNOS have been performed to evaluate eNOS function in platelets and liver specimens. Flow-mediated-dilation (FMD) was also performed. Data were compared with healthy controls. Results: Twenty-one (38, 8%) patients had NAFL and 33 (61, 7%) NASH. No differences were found between groups and controls except for HOMA and insulin (p < 0.0001). Vascular reactivity demonstrated a reduced function induced from NAFLD platelets as compared with controls (p < 0.001), associated with an impaired p-eNOS in both platelets and liver (p < 0.001). NAFL showed a higher impairment of eNOS phosphorylation in comparison to NASH (p < 0.01). In contrast with what observed in vitro, the vascular response by FMD was worse in NASH as compared with NAFL. Conclusions: Our data showed, for the first time in humans, that NAFLD patients show a marked eNOS dysfunction, which may contribute to a higher CV risk. eNOS dysfunction observed in platelets and liver tissue didn't match with FMD

Efficacy and timing of adjunctive therapy in the anti-VEGF treatment regimen for macular oedema in retinal vein occlusion:12-month real-world result

PurposeVarious combination treatment regimens have been tried to improve the short-term efficacy of intravitreal monotherapy for the treatment of macular oedema (MO) secondary to retinal vein occlusion (RVO). Our study introduces the RandOL protocol (Ranibizumab and Ozurdex with Laser photocoagulation) of initial anti-VEGF therapy, controlling recurrent non-ischaemic MO with an intravitreal steroid and applying laser therapy to non-perfused retina. We describe our 12-month follow-up experience on timing for adjunctive therapy and real-world effectiveness and safety data.MethodsA retrospective analysis was carried out on 66 consecutive treatment-naive RVO patients with MO who received our RandOL treatment regimen. Baseline visual acuity (VA) and central retinal thickness (CRT) were compared with 12-month result.ResultsAt 12 months, 77% had significant VA improvement, 52% had ≥3-line improvement, and 15% were worse. Significant improvements in CRT were observed in 97% (baseline median CRT=531 μm (IQR 435-622) reduced to 245 μm (IQR 221-351, P<0.001) at 12 months); 76% achieved a dry fovea at 1 year. Mean number of total injections required was 5.5 (range 2-11) and 6% required ≥9 injections in 1 year. Although 70% received additional Ozurdex, 82% received ≥1 sessions of laser therapy. The BRVO subgroup achieved better VA and CRT improvement at 1 year, but small numbers limit definitive statistical conclusions.ConclusionsOur real-world results using a combination treatment protocol for RVO-related MO achieved similar desirable anatomical and visual outcomes as with a single-agent therapy with less intravitreal re-treatment rates at first year. Randomised controlled studies are needed to evaluate the role of laser and the ideal timing of combination therapy

Links between Metabolic Syndrome and Cardiovascular Autonomic Dysfunction

Background. Type 2 diabetes (T2D) might occur within metabolic syndrome (MbS). One of the complications of T2D is an impaired (imp) cardiovascular autonomic function (CAF). Aims. In subjects with T2D and age ≤ 55 years, the prevalence of impCAF and its relationship with BMI, waist, HbA1c values, MbS, hypertension, and family history of T2D and/or hypertension were analysed. Methods. 180 subjects consecutively undergoing a day hospital for T2D were studied. The IDF criteria were used to diagnose MbS. To detect impCAF, 5 tests for the evaluation of CAF were performed with Cardionomic (Meteda, Italy). Univariate and multivariate analyses were performed. Results. The prevalence of impCAF and MbS were 33.9% and 67.8%, respectively. Among diabetics with impCAF, 86.9% had MbS. ImpCAF was significantly associated with MbS, overweight, and HbA1c > 7%. Both logistic (P = 0.0009) and Poisson (P = 0.0113) models showed a positive association between impCAF and MbS. The degree of ImpCAF showed a positive linear correlation with BMI and HbA1c values. Conclusions. The study demonstrates that glycaemic control and overweight influence CAF and that T2D + MbS is more strongly associated with impCAF than isolated T2D. We suggest that MbS not only increases the cardiovascular risk of relatively young subjects with T2D but is also associated with impCAF

“Multidimensional child sex rings”: a systematic review of the literature

Background: In 1983 Kennet Lanning began his studies dealing with sexual rituals, and in 1985 there calls “Multidimensional Child Sex Rings” identifying features and modes (Lanning, 1992). In his studies Lanning (1992), describes the types of offences related to the dimension of ritual abuse by claiming that there is no clear evidence about some of these crimes. On the basis of those statements Weir and Wheatcroft (1995) list as possible by declaring a false ritual abuse and then of false memories, the suggestion of special interest about the growing psychotherapists induced ritual abuse and who believe in the existence of these crimes.This systematic review of the literature, in the light of subsequent events and subsequent updates of methodology aims to analyze the relationship between “Ritual Abuse” and the false memory that can appear during psychotherapy. Materials and Methods: This study was carried out using the PRISMA guidelines, by conducting a systematic search of the literature on PubMed, Scopus, ISI Web of Science, EBSCO, Google Scholar, and ScienceDirect. The following keywords used were “ritual abuse” “AND” (i.e., Boolean operator) “psychotherapy” combined with “AND” Boolean operator and “false memory”.Results: The initial search identified n = 167 citations. Only one research report met the predefined inclusion criteria and was analysed.Conclusion: In case of false memories in ritual abuse, it is necessary to implement the research activities to avoid that results obtained can be rejected by health professionals or by theories not scientifically validated.Background: Nel 1983 Kennet Lanning inizia i suoi studi occupandosi di abusi sessuali rituali, e nel 1985 lì definisce “Multidimensional Child Sex Rings” identificandone caratteristiche e modalità (Lanning, 1992). Nei suoi studi Lanning (1992), descrive le tipologie di reato connesse alla dimensione dell’abuso rituale sostenendo che non esistono prove certe in merito ad alcuni di questi reati. Sulla base di tali affermazioni Weir and Wheatcroft (1995) elencano come possibili ipotesi di generazione di falsi abusi rituali e quindi di falsi ricordi, la suggestione indotta di psicoterapeuti che coltivano speciali interessi circa gli abusi rituali e che credono nell’esistenza di questi crimini. La presente analisi sistematica della letteratura, alla luce dei successivi accadimenti e di successivi aggiornamenti metodologici ha lo scopo di analizzare la relazione tra “Abuso Rituale” ed il falso ricordo che può manifestarsi durante la psicoterapia. Materiali e Metodi: Tale studio è stato effettuato utilizzando le linee guida per l’utilizzo della metodología PRISMA, effettuando una ricerca sistematica su PubMed, Scopus, ISI Web of Science, EBSCO, Google Scholar e ScienceDirect. Le parole chiave utilizzate per la ricerca sono state “ritual abuse” “AND” (i.e. operatore Boleano) “psychotherapy” “AND” “false memory”.Risultati: Sono stati inizialmente trovati n = 167 records. Un solo articolo ha poi soddisfatto i criteri di inclusione ed è stato analizzati.Conclusioni: Nel caso delle false memorie negli abusi rituali, sembra necessario implementare l’attività di ricerca per evitare che qualsiasi risultato ottenuto possa essere contrastato dai professionisti della salute o da teorie non validate scientificamente