The field of forensic science is increasingly based on biomolecular data and many European countries are establishing forensic databases to store DNA profiles of crime scenes of known offenders and apply DNA testing. The field is boosted by statistical and technological advances such as DNA microarray sequencing, TFT biosensors, machine learning algorithms, in particular Bayesian networks, which provide an effective way of evidence organization and inference. The aim of this article is to discuss the state of art potentialities of bioinformatics in forensic DNA science. We also discuss how bioinformatics will address issues related to privacy rights such as those raised from large scale integration of crime, public health and population genetic susceptibility-to-diseases databases.
Introduction: “Medically Unexplained Physical Symptoms” (MUPS) defines a subgroup of patients presenting physical symptoms of unclear origin. The study aims to profile clinical and socio-demographic characteristics of patients with MUPS.Materials and Methods: This 9-years observational retrospective study assesses all patients admitted between 2008 and 2016 in the divisions of neurology and gastroenterology. Socio-demographic and clinical variables were evaluated: gender, age, diagnosis or diagnostic hypothesis, presence of psychiatric comorbidities, psychiatric evaluation, pharmacological treatment, number of admissions/visits.Results: Among 2,479 neurological patients 10.1% presented MUPS. Patients were more frequently women (63.5%), with a mean age of about 50 years. Reported symptoms were headache (22.6%), seizures (8.7%), vertigo (5.9%), fibromyalgia (5.5%), paresthesia (5.1%), visual disturbances (5.1%), amnesia (3.9%). The diagnosis was somatoform disorder in 6.3% of cases, conversion disorder in 2.7%, and somatic symptom disorder in 1.5% only. 2,560 outpatients were evaluated in gastroenterology division. 9.6% (n = 248) of patients had MUPS; 62.1% of them were women. The most affected age group ranged between 15 and 45 years. The most frequent diagnoses were functional abdominal pain (50%), dysmotility-like dyspepsia (26.6%), irritable bowel syndrome (10.4%), meteorism of unknown cause (2.4%), hiccup (1.6%), burning mouth syndrome (1.2%). No patients received a diagnosis of somatic symptom disorder.Discussion: Patients with MUPS are more often women, of middle age, with self-referred specific symptomatology. While neurological patients received a diagnostic-therapeutic approach in line with the literature, gastroenterological patients mainly received antipsychotics. A more comprehensive assessment and a development of psychoeducational interventions are needed to improve patients' quality and quantity of life.
High‐affinity melatonin receptors are present in rat suprachiasmatic nuclei (SCN), and their density exhibits a daily rhythm regulated by the light/dark cycle. In this study we demonstrate that the light regulation of these receptors depends on a circadian mechanism. Pinealectomized rats kept in constant darkness were subjected to 1‐hr light pulses delivered across the circadian cycle. The density of melatonin receptors was significantly increased when photic exposure was performed during subjective night, and not different from control animals kept in darkness when the light pulse was applied during subjective day. The protein product (Fos) of the immediate early gene c‐fos studied in the same paradigm showed globally the same circadian sensitivity phase. These results clearly show that, although the rhythmic appearance of melatonin receptor density in SCN follows and is directly regulated by the standard light/dark cycle, this light regulation is not passive. As is the case with Fos‐like protein, it is only during a precise phase of the circadian cycle that light is able to regulate the density of melatonin receptors in SCN. © 1996 Wiley‐Liss,Inc.
Precision and personalized medicine will be increasingly based on the integration of various type of information, particularly electronic health records and genome sequences. The availability of cheap genome sequencing services and the information interoperability will increase the role of online bioinformatics analysis. Being on the Internet poses constant threats to security and privacy. While we are connected and we share information, websites and internet services collect various types of personal data with or without the user consent. It is likely that genomics will merge with the internet culture of connectivity. This process will increase incidental findings, exposure and vulnerability. Here we discuss the social vulnerability owing to the genome and Internet combined security and privacy weaknesses. This urges more efforts in education and social awareness on how biomedical data are analysed and transferred through the internet and how inferential methods could integrate information from different sources. We propose that digital social platforms, used for raising collective awareness in different fields, could be developed for collaborative and bottom-up efforts in education. In this context, bioinformaticians could play a meaningful role in mitigating the future risk of digital-genomic divide.
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A 10-year-old girl presented to our hospital with arthralgia in the lower extremities and abdominal pain. Laboratory tests were normal. Urinalysis was negative for hematuria and proteinuria. Stool for occult blood test was negative. She was given oral ibuprofen for joint pain. On the same day she also presented with fever and sore throat, so she was given oral clavulanic-amoxicillin. After a few days she presented to our hospital with advanced polyarthralgias (affecting her wrists and ankles in particular) and two episodes of vomiting.She was admitted to our unit, at which point she suddenly presented with severe abdominal pain localized in the epigastric and the lower quadrant of her abdomen, leading to hematemesis and melena. On physical examination there were discreet general conditions, the abdomen was soft, and only deep palpation evoked diffuse moderate pain. Cardiac and lung findings were normal. The girl also presented with swollen and painful wrists and ankles, and a few purpuric lesions appeared on her lower extremities and eyelid.We suspended anti-inflammatory oral therapy and began omeprazole intravenously. We positioned nasogastric and rectal tubes. Laboratory tests revealed normal values of hemoglobin and coagulation parameters, C-reactive protein of 2.1 mg/dL (normal value <.5 mg/ dL), and normal renal and liver function. Urinalysis was negative for hematuria and proteinuria. Abdominal ultrasound showed thickening of the duodenal wall (Figure 1). Esophagogastroduodenoscopy showed multiple erosions in the duodenum with hyperemic gastric mucosa, and the biopsies were compatible with leukocytoclastic vasculitis (Figure 2). Steroid therapy with intravenous methylprednisolone at 2 mg/kg was started. The patient showed progressive improvement of her general condition in the first 24 hours, and 2 days later we removed the nasogastic tube and she began a liquid diet and then began to eat lighter foods. The patient was discharged from the hospital, and her laboratory and radiological follow-up results showed complete regression of the lesions after 3 weeks of steroid therapy (Figure 3).
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