A heart in a heart: a case report of spontaneous flail of bicuspid aortic valve

Background Aortic regurgitation is attributed to congenital and acquired abnormalities of the aortic valve or aortic valve supporting structures. The most common cause of aortic regurgitation is atherosclerotic degeneration of the valve, especially in the presence of a bicuspid aortic valve. Case summary A 25-year-old Persian man with no past medical history, developed dyspnea since 1 week before his first visit to the physician. He was an active person up to this time, and had no history of trauma or chest pain. Transthoracic echocardiography showed severe aortic regurgitation in the context of flail bicuspid aortic valve, with no evidence of endocarditis. Laboratory tests including blood cultures were negative for infection. The patient underwent aortic valve replacement and the diagnosis was confirmed at time of surgery. Conclusion This case represents noninfective and nontraumatic spontaneous flail of bicuspid aortic valve.

Early alterations of cortical thickness and gyrification in migraine without aura: a retrospective MRI study in pediatric patients

Background Migraine is the most common neurological disease, with high social-economical burden. Although there is growing evidence of brain structural and functional abnormalities in patients with migraine, few studies have been conducted on children and no studies investigating cortical gyrification have been conducted on pediatric patients affected by migraine without aura. Methods Seventy-two pediatric patients affected by migraine without aura and eighty-two controls aged between 6 and 18 were retrospectively recruited with the following inclusion criteria: MRI exam showing no morphological or signal abnormalities, no systemic comorbidities, no abnormal neurological examination. Cortical thickness (CT) and local gyrification index (LGI) were obtained through a dedicated algorithm, consisting of a combination of voxel-based and surface-based morphometric techniques. The statistical analysis was performed separately on CT and LGI between: patients and controls; subgroups of controls and subgroups of patients. Results Patients showed a decreased LGI in the left superior parietal lobule and in the supramarginal gyrus, compared to controls. Female patients presented a decreased LGI in the right superior, middle and transverse temporal gyri, right postcentral gyrus and supramarginal gyrus compared to male patients. Compared to migraine patients younger than 12 years, the ≥ 12-year-old subjects showed a decreased CT in the superior and middle frontal gyri, pre- and post-central cortex, paracentral lobule, superior and transverse temporal gyri, supramarginal gyrus and posterior insula. Migraine patients experiencing nausea and/or vomiting during headache attacks presented an increased CT in the pars opercularis of the left inferior frontal gyrus. Conclusions Differences in CT and LGI in patients affected by migraine without aura may suggest the presence of congenital and acquired abnormalities in migraine and that migraine might represent a vast spectrum of different entities. In particular, ≥ 12-year-old pediatric patients showed a decreased CT in areas related to the executive function and nociceptive networks compared to younger patients, while female patients compared to males showed a decreased CT of the auditory cortex compared to males. Therefore, early and tailored therapies are paramount to obtain migraine control, prevent cerebral reduction of cortical thickness and preserve executive function and nociception networks to ensure a high quality of life.

Hysterosalpingography in the assessment of proximal tubal pathology: a review of congenital and acquired abnormalities

Tubal and peritoneal disease are the main causes of infertility. Tubal pathology can be either congenital malformation or acquired, proximal or distal, unilateral or bilateral and transient or permanent. Several imaging methods such as laparoscopy, fluoroscopy, saline infusion sonography, and hysterosalpingography (HSG) have been used in the assessment of tubal and peritoneal pathology. Although laparoscopy is the modality of choice for investigating tubal patency and pelvic structure in many infertility centers, HSG is usually the initial diagnostic method for infertility workup because of its ease of performance, accuracy, and minimal risk of complications. This method provides useful information about size, contour, and anatomy of the inner surface of the fallopian tubes and is the gold standard for evaluation of tubal lumen. Tubal and peritubal pathology show various imaging manifestations on HSG. This review illustrates the radiographic features of congenital and acquired structural abnormalities of the proximal tubal pathology and along with etiology of proximal obstruction or occlusion will be described.

Duodenal displacement and acquired intrathoracic stomach in an extreme premature baby on jejunostomy feeds- a case report

Repeated and persistent displacement forces can lead to acquired abnormalities in the position of the foregut in premature neonates. Cow milk protein intolerance should be considered early as a cause of feed intolerance, recurrent vomiting and other gastrointestinal symptoms in premature neonates. Upper gastrointestinal contrast study cannot be used to diagnose gastro-oesophageal reflux disease.

Antagonistic epistasis of Hnf4α and FoxO1 networks through enhancer interactions in β-cell function

Genetic and acquired abnormalities contribute to pancreatic β-cell failure in diabetes. Transcription factors Hnf4α (MODY1) and FoxO1 are respective examples of these two components, and are known to act through β-cell-specific enhancers. However, their relationship is unclear. Here we show by genome-wide interrogation of chromatin modifications that FoxO1 ablation in mature β-cells leads to increased selection of FoxO1 enhancers by Hnf4α. To model the functional significance we generated single and compound knockouts of FoxO1 and Hnf4α in β-cells. Single knockout of either gene impaired insulin secretion in mechanistically distinct fashions. Surprisingly, the defective β-cell secretory function of either single mutant in hyperglycemic clamps and isolated islets treated with various secretagogues, was completely reversed in double mutants. Gene expression analyses revealed the reversal of β-cell dysfunction with an antagonistic network regulating glycolysis, including β-cell “disallowed” genes; and that a synergistic network regulating protocadherins emerged as likely mediators of the functional restoration of insulin secretion. The findings provide evidence of antagonistic epistasis as a model of gene/environment interactions in the pathogenesis of β-cell dysfunction.

Difficulties in the Diagnosis of Acute Porphyria in a Medical Hospital: Case Reports

Two cases of acute porphyria are presented. Acute porphyria is a rare disease, a pathology associated with hereditary or acquired abnormalities of the biosynthesis of heme. The main features distinguishing these nosological forms are: the prevalence of precursors of porphyrins among laboratory-defined metabolites, rapid clinical progression of the disease; the absence of a correct diagnosis or late diagnosis resulting in life threatening neurological disorders. The main diagnostic difficulties are related to a non-specific character of clinical signs of acute intermittent porphyria, the clinical signs mimic a large range of somatic conditions, including emergency conditions. Certain difficulties for doctors are caused by the orphan nature of porphyria, clinical polymorphism, the difficulty to obtain pathogenetic drugs in medical institution for treatment of the disease in the Russian Federation.

Diagnosis and Management of Acquired Bleeding Disorders

The hemostatic response to vascular injury consists of vascular constriction, platelet activation resulting in platelet adhesion (mediated by von Willebrand factor), and platelet aggregation resulting in an initial platelet plug formation at the site of vascular injury. This platelet plug is stabilized by formation of fibrin, which results from activation of the procoagulant coagulation factors. Congenital or acquired abnormalities of the procoagulant factors result in a bleeding and thrombotic tendency of variable severity. Acquired abnormalities of the procoagulant system are typically associated underlying systemic disorders; however, they may also be idiopathic. Recognition, laboratory diagnosis, and principles of management of acquired coagulopathy are reviewed in this chapter.

THE PRIMARY INVESTIGATOR’S TASKS FOR TESTIMONIES VERIFICATION

In this article there were proposed author’s definitions for “testimonies verification” and “capability to perceive”. It was emphasized that testimonies verification is the way for determination the objective truth of fact or statement of a person relating to the circumstances of criminal offence. A possibility to perceive – is the process of formulation of holistic subject subjective of criminal offence. It was pointed, that the process of perception is interrelated with such psychological cognitive processes of personality as aesthesia, memory, ideation, imagination and speech. That’s why, the certainty of information relating to the circumstances of criminal offence is conditioned by the ability of personality not only to perceive, but to: 1) feel; 2) order perceived objectively; 3) memorize, keep and reproduce perceived objectively; 4) form the subject’s image or phenomenon that is not being perceived at the moment, but it had been perceived before; 5) explain objectively that is subjectively perceived. There were concretized by the author the primary tasks of investigator for testimony verification during certain stages of interrogation (preparatory, principal and final). It was mentioned, that the primary tasks on the preparatory stage are: 1) to research the circumstances of forensic offence; 2) to collect the data about the personality of witness that is about: a) the character of relations with suspect and victim; b) his reputation; c) the presence of chronic psychological disease, natural or acquired abnormalities of the development of perception bodies; d) his individual and psychological characteristics (type of character, peculiarities of psychological perceptional processes, level of intellectual development) and etc.; 3) the composition of questions’ list, that will provide the testimonies verification. It was determined, that testimonies verification during interrogation may take place by means of testimonies comparison with available facts and methods of audiovisual psychodiagnostics. On final stage (after interrogation) investigator`s tasks are the: 1) comparison of testimonies with other persons` evidences; 2) estimation of testimonies and determination their gaps and inaccuracies; 3) preparation of clarifying questions to the witness (on necessity); 4) collection of additional information, that concretizes and clarify the circumstances of criminal offence. It was accentuated that verification’s method appliance is uninterrupted process, that comprises almost all investigative (inquiry) actions. That’s why, investigator should be aware of its essence and peculiarities of its appliance. Key words: verification, testimonies, witness, investigator, task, criminal offence.