Search results for: maxillary sinus

Authors: Rashid Azeem

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Introduction: Eosinophilia, which can be categorized as mild, moderate, and severe form on the basis of increasing eosinophil counts, might be responsible for a wide range of cardiac manifestations, varying from a simple myocarditis to a severe state like endomyocardial fibrosis. Eosinophils are involved in the pathogenesis of a variety of cardiovascular disorder like Loffler endocarditis, eosinophilic granulomatosis with polyangitis (EGPH), and hyper eosinophilic (HES). Among them HES carries and incidence rate b/w 48% and 75% and is the main causes of cardiac motility and mobility due to eosinophilia involvement. Aims and objectives: The aim of this study is to determine the frequency of eosinophilia in cardiac patients and to ascertain the evidence of endomyocardial diseases in eosinophilic patients in a cardiology institution Material and Methods: This cross sectional analytical study was conducted in hematology Department of Peshawar institute of Cardiology after approval from hospital ethical and research committee. All 70 patients were subjected to detailed history and clinical examination. Investigation like CBC, Chest X-ray, ECG, Echo, Angiography findings were used to monitor patient’s clinical status. Data is analyzed using SPSS version 25 and MS Excel. Results: Out of 70 patients in our study, a total of 66 patients(94 %) shows evidence of cardiac manifestations. In our study, we have observed a number of abnormal ECG patterns in cardiac patients presenting with eosinophilia, like T wave changes, loss of R wave, sinus bradycardia with LVH strain, and ST wave abnormality. abnormal echocardiographic findings were observed in our patients, like valvular abnormalities (in 45.7%), RWMA abnormalities (in 2.8%), isolated ventricular dysfunction (in 21.4%), and in 10% patients, normal echocardiography. We further noted abnormal coronary angiography findings in cardiac patients with eosinophilia ranging from single vessel to multi vessel occlusions. Conclusions: Eosinophils are involved in the pathogenesis of a variety of cardiovascular disorders which can be detected by various diagnostic means, and the severity of the disease increases with time and with increasing eosinophil count ranging from simple myocarditis to a fatal condition like endomyocardial fibrosis. Thus, increased eosinophilic count as a laboratory parameter in cardiac patients may be a sign of endomyocardial damage which will further help cardiologist to intervene more aggressively then routine approach to a cardiac patient.

Keywords: eosinophilia, endomyocardial fibrosis, cardiac, hypereosinophilic syndrome

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Authors: Zeena Dcosta, Junaid Ahmed, Ceena Denny, Nandita Shenoy

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In the field of dentistry, there are many conditions which warrant the requirement of three-dimensional imaging that can aid in diagnosis and therapeutic management. Cone beam computed tomography (CBCT) is considered highly accurate in producing a three-dimensional image of an object and provides a complete insight of various findings in the captured volume. But, most of the clinicians focus primarily on the teeth and jaws and numerous unanticipated clinically significant incidental findings may be missed out. Rapid integration of CBCT into the practice of dentistry has led to the detection of various incidental findings. However, the prevalence of these incidental findings is still unknown. Thus, the study aimed to discern the reason for referral and to identify incidental findings on the referred CBCT scans. Patient’s demographic data such as age and gender was noted. CBCT scans of multiple fields of views (FOV) were considered. The referral for CBCT scans was broadly classified into two major categories: diagnostic scan and treatment planning scan. Any finding on the CBCT volumes, other than the area of concern was recorded as incidental finding which was noted under airway, developmental, pathological, endodontics, TMJ, bone, soft tissue calcifications and others. Few of the incidental findings noted under airway were deviated nasal septum, nasal turbinate hypertrophy, mucosal thickening and pneumatization of sinus. Developmental incidental findings included dilaceration, impaction, pulp stone and gubernacular canal. Resorption of teeth and periapical pathologies were noted under pathological incidental findings. Root fracture along with over and under obturation was noted under endodontics. Incidental findings under TMJ were flattening, erosion and bifid condyle. Enostosis and exostosis were noted under bone lesions. Tonsillolth, sialolith and calcified styloid ligament were noted under soft tissue calcifications. Incidental findings under others included foreign body, fused C1- C2 vertebrae, nutrient canals, and pneumatocyst. Maxillofacial radiologists should be aware of possible incidental findings and should be vigilant about comprehensively evaluating the entire captured volume, which can help in early diagnosis of any potential pathologies that may go undetected. Interpretation of CBCT is truly an art and with the experience, we can unravel the secrets hidden in the grey shades of the radiographic image.

Keywords: cone beam computed tomography, incidental findings, maxillofacial region, radiologist

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Authors: Anna Ghosh, Dominic Shields, Ceri McIntosh, Stephen Crank

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A 29-year-old male was a referral to the maxillofacial unit following a referral from his general dental practitioner via a routine pathway regarding a large periapical lesion on the LR4 with root resorption. The patient was asymptomatic, the LR4 vital and unrestored, and this was an incidental finding at a routine check-up. The patient's past medical history was unremarkable. Examination revealed no extra or intra-oral pathology and non-mobile teeth. No focal neurology was detected. An orthopantogram demonstrated a well-defined unilocular corticated radiolucency associated with the LR4. The root appeared shortened with the radiolucency between the root and a radio-opacity, possibly representing the displacement of the apical tip of the tooth. It was recommended that the referring general practitioner should proceed with orthograde root canal therapy, after which time exploration, enucleation, and retrograde root filling of the LR4 would be carried out by a maxillofacial unit. The patient was reviewed six months later where, due to the COVID-19 pandemic, the patient had been unable to access general dental services for the root canal treatment. He was still entirely asymptomatic. A one-year review was planned in the hope this would allow time for the orthograde root canal therapy to be completed. At this review, the orthograde root canal therapy had still not been completed. Interestingly, a repeat orthopantogram revealed a significant reduction in size with good bony infill and a significant reduction in the size of the lesion. Due to the ongoing delays with primary care dental therapy, the patient was subsequently internally referred to the restorative dentistry department for care. The patient was seen again by oral and maxillo-facial surgery in mid-2022 where he still reports this tooth as asymptomatic with no focal neurology. The patient's history was fully reviewed, and noted that 15 years previously, the patient underwent open reduction and internal fixation of a left angle of mandible fracture. Temporary IMF involving IMF screws and fixation wires were employed to maintain occlusion during plating and subsequently removed post-operatively. It is proposed that the radiolucency was, as a result of the IMF screw placement, penetrating the LR4 root resulting in resorption of the tooth root and development of a radiolucency. This case highlights the importance of careful screw size and physical site location, and placement of IMF screws, as there can be permeant damage to a patient’s dentition.

Keywords: facial trauma, inter-maxillary fixation, mandibular radiolucency, oral and maxillo-facial surgery

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Authors: Lakdar Sadi-Haddad

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The past few years study of very high speed electrical drives have seen a resurgence of interest. An inventory of the number of scientific papers and patents dealing with the subject makes it relevant. In fact democratization of magnetic bearing technology is at the origin of recent developments in high speed applications. These machines have as main advantage a much higher power density than the state of the art. Nevertheless particular attention should be paid to the design of the inverter as well as control and command. Surface mounted permanent magnet synchronous machine is the most appropriate technology to address high speed issues. However, it has the drawback of using a carbon sleeve to contain magnets that could tear because of the centrifugal forces generated in rotor periphery. Carbon fiber is well known for its mechanical properties but it has poor heat conduction. It results in a very bad evacuation of eddy current losses induce in the magnets by time and space stator harmonics. The three-phase inverter is the main harmonic source causing eddy currents in the magnets. In high speed applications such harmonics are harmful because on the one hand the characteristic impedance is very low and on the other hand the ratio between the switching frequency and that of the fundamental is much lower than that of the state of the art. To minimize the impact of these harmonics a first lever is to use strategy of modulation producing low harmonic distortion while the second is to introduce a sinus filter between the inverter and the machine to smooth voltage and current waveforms applied to the machine. Nevertheless, in very high speed machine the interaction of the processes mentioned above may introduce particular harmonics that can irreversibly damage the system: harmonics at the resonant frequency, harmonics at the shaft mode frequency, subharmonics etc. Some studies address these issues but treat these phenomena with separate solutions (specific strategy of modulation, active damping methods ...). The purpose of this paper is to present a complete new active harmonic compensation algorithm based on an improvement of the standard vector control as a global solution to all these issues. This presentation will be based on a complete theoretical analysis of the processes leading to the generation of such undesired harmonics. Then a state of the art of available solutions will be provided before developing the content of a new active harmonic compensation algorithm. The study will be completed by a validation study using simulations and practical case on a high speed machine.

Keywords: active harmonic compensation, eddy current losses, high speed machine

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Authors: Vasudha Govil, Prashant Kumar, Ishwar Singh, Kiranpreet Kaur

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Traumatic brain injury leads to elevated intracranial pressure. Intraocular pressure (IOP) may also be affected by intracranial pressure. Increased venous pressure in the cavernous sinus is transmitted to the episcleral veins, resulting in an increase in IOP. All drugs used in anesthesia induction can change IOP. Irritation of the gag reflex after usage of the endotracheal tube can also increase IOP; therefore, the administration of anesthetic drugs, which make the lowest change in IOP, is important, while cardiovascular depression must also be avoided. Thiopentone decreases IOP by 40%, whereas etomidate decreases IOP by 30-60% for up to 5 minutes. Hundred patients (age 18-55 years) who underwent emergency craniotomy for TBI are selected for the study. Patients are randomly assigned to two groups of 50 patients each accord¬ing to the drugs used for induction: group T was given thiopentone sodium (5mg kg-1) and group E was given etomi¬date (0.3mg kg-1). Preanaesthesia intraocular pressure (IOP) was measured using Schiotz tonometer. Induction of anesthesia was achieved with etomidate (0.3mg kg-1) or thiopentone (5mg kg-1) along with fentanyl (2 mcg kg-1). Intravenous rocuronium (0.9mg kg-1) was given to facilitate intubation. Intraocular pressure was measured after 1 minute of induction agent administration and 5 minutes after intubation. Maintainance of anesthesia was done with isoflurane in 50% nitrous oxide with fresh gas flow of 5 litres. At the end of the surgery, the residual neuromuscular block was reversed and the patient was shifted to ward/ICU. Patients in both groups were comparable in terms of demographic profile. There was no significant difference between the groups for the hemody¬namic and respiratory variables prior to thiopentone or etomidate administration. Intraocular pressure in thiopentone group in left eye and right eye before induction was 14.97±3.94 mmHg and 14.72±3.75 mmHg respectively and for etomidate group was 15.28±3.69 mmHg and 15.54±4.46 mmHg respectively. After induction IOP decreased significantly in both the eyes (p<0.001) in both the groups. After 5 min of intubation IOP was significantly less than the baseline in both the eyes but it was more than the IOP after induction with the drug. It was found that there was no statistically significant difference in IOP between the two groups at any point of time. Both the drugs caused a significant decrease in IOP after induction and after 5 minutes of endotracheal intubation. The mechanism of decrease in IOP by intravenous induction agents is debatable. Systemic hypotension after the induction of anaesthesia has been shown to cause a decrease in intra-ocular pressure. A decrease in the tone of the extra-ocular muscles can also result in a decrease in intra-ocular pressure. We observed that it is appropriate to use etomidate as an induction agent when elevation of intra-ocular pressure is undesirable owing to the cardiovascular stability it confers in the patients.

Keywords: etomidate, intraocular pressure, thiopentone, traumatic

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Behzad Babaei, B. Gangadhara Prusty

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The objective of this study is to assess the hypotheses that a restored tooth with a class II occlusal-distal (OD) cavity can be strengthened by designing an optimized cavity geometry, as well as selecting the composite restoration with optimized elastic moduli when there is a sharp de-bonded edge at the interface of the tooth and restoration. Methods: A scanned human maxillary molar tooth was segmented into dentine and enamel parts. The dentine and enamel profiles were extracted and imported into a finite element (FE) software. The enamel rod orientations were estimated virtually. Fifteen models for the restored tooth with different cavity occlusal depths (1.5, 2, and 2.5 mm) and internal cavity angles were generated. By using a semi-circular stone part, a 400 N load was applied to two contact points of the restored tooth model. The junctions between the enamel, dentine, and restoration were considered perfectly bonded. All parts in the model were considered homogeneous, isotropic, and elastic. The quadrilateral and triangular elements were employed in the models. A mesh convergence analysis was conducted to verify that the element numbers did not influence the simulation results. According to the criteria of a 5% error in the stress, we found that a total element number of over 14,000 elements resulted in the convergence of the stress. A Python script was employed to automatically assign 2-22 GPa moduli (with increments of 4 GPa) for the composite restorations, 18.6 GPa to the dentine, and two different elastic moduli to the enamel (72 GPa in the enamel rods’ direction and 63 GPa in perpendicular one). The linear, homogeneous, and elastic material models were considered for the dentine, enamel, and composite restorations. 108 FEA simulations were successively conducted. Results: The internal cavity angles (α) significantly altered the peak maximum principal stress at the interface of the enamel and restoration. The strongest structures against the contact loads were observed in the models with α = 100° and 105. Even when the enamel rods’ directional mechanical properties were disregarded, interestingly, the models with α = 100° and 105° exhibited the highest resistance against the mechanical loads. Regarding the effect of occlusal cavity depth, the models with 1.5 mm depth showed higher resistance to contact loads than the model with thicker cavities (2.0 and 2.5 mm). Moreover, the composite moduli in the range of 10-18 GPa alleviated the stress levels in the enamel. Significance: For the class II OD cavity models in this study, the optimal geometries, composite properties, and occlusal cavity depths were determined. Designing the cavities with α ≥100 ̊ was significantly effective in minimizing peak stress levels. The composite restoration with optimized properties reduced the stress concentrations on critical points of the models. Additionally, when more enamel was preserved, the sturdier enamel-restoration interface against the mechanical loads was observed.

Keywords: dental composite restoration, cavity geometry, finite element approach, maximum principal stress

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Authors: Maria P. Geneva, Ira V. Stancheva, Marieta G. Hristozkova, Roumiana D. Vasilevska-Ivanova, Mariana T. Sichanova, Janet R. Mincheva

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Hyssopus officinalis L., Lamiaceae, commonly called hyssop, is an aromatic, semi-evergreen, woody-based, shrubby perennial plant. Hyssop is a good expectorant and antiviral herb commonly used to treat respiratory conditions such as influenza, sinus infections, colds, and bronchitis. Most of its medicinal properties are attributed to the essential oil of hyssop. The study was conducted to evaluate the influence of inoculation with arbuscular mycorrhizal fungi of in vitro propagated hyssop plants on the: activities of antioxidant enzymes superoxide dismutase, catalase, guaiacol peroxidase and ascorbate peroxidase; accumulation of non-enzymatic antioxidants total phenols and flavonoid, water-soluble soluble antioxidant metabolites expressed as ascorbic acid; the antioxidant potential of hyssop methanol extracts assessed by two common methods: free radical scavenging activity using free stable radical (2,2-diphenyl-1-picrylhydrazyl, DPPH• and ferric reducing antioxidant power FRAP in flowers and leaves. The successfully adapted to field conditions in vitro plants (survival rate 95%) were inoculated with arbuscular mycorrhizal fungi (Claroideoglomus claroideum, ref. EEZ 54). It was established that the activities of enzymes with antioxidant capacity (superoxide dismutase, catalase, guaiacol peroxidase and ascorbate peroxidase) were significantly higher in leaves than in flowers in both control and mycorrhized plants. In flowers and leaves of inoculated plants, the antioxidant enzymes activity were lower than in non-inoculated plants, only in SOD activity, there was no difference. The content of low molecular metabolites with antioxidant capacity as total phenols, total flavonoids, and water soluble antioxidants was higher in inoculated plants. There were no significant differences between control and inoculated plants both for FRAP and DPPH antioxidant activity. According to plant essential oil content, there was no difference between non-inoculated and inoculated plants. Based on our results we could suggest that antioxidant capacity of in vitro propagated hyssop plant under conditions of cultivation is determined by the phenolic compounds-total phenols and flavonoids as well as by the levels of water-soluble metabolites with antioxidant potential. Acknowledgments: This study was conducted with financial support from National Science Fund at the Bulgarian Ministry of Education and Science, Project DN06/7 17.12.16.

Keywords: antioxidant enzymes, antioxidant metabolites, arbuscular mycorrhizal fungi, Hyssopus officinalis L.

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Authors: Sadie Namani, Lindita Ajazaj, Arjeta Zogaj, Vera Berisha, Bahrije Halili, Luljeta Hasani, Ajete Aliu

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Background: The outcome of bacterial meningitis is strongly related to the resistance of bacterial pathogens to the initial antimicrobial therapy. The objective of the study was to analyze the initial antimicrobial therapy, the resistance of meningeal pathogens and the outcome of adults bacterial meningitis cases. Materials/methods: This prospective study enrolled 46 adults older than 16 years of age, treated for bacterial meningitis during the years 2009 and 2010 at the infectious diseases clinic in Prishtinë. Patients are categorized into specific age groups: > 16-26 years of age (10 patients), > 26-60 years of age (25 patients) and > 60 years of age (11 patients). All p-values < 0.05 were considered statistically significant. Data were analyzed using Stata 7.1 and SPSS 13. Results: During the two year study period 46 patients (28 males) were treated for bacterial meningitis. 33 patients (72%) had a confirmed bacterial etiology; 13 meningococci, 11 pneumococci, 7 gram-negative bacilli (Ps. aeruginosa 2, Proteus sp. 2, Acinetobacter sp. 2 and Klebsiella sp. 1 case) and 2 staphylococci isolates were found. Neurological complications developed in 17 patients (37%) and the overall mortality rate was 13% (6 deaths). Neurological complications observed were: cerebral abscess (7/46; 15.2%), cerebral edema (4/46; 8.7%); haemiparesis (3/46; 6.5%); recurrent seizures (2/46; 4.3%), and single cases of thrombosis sinus cavernosus, facial nerve palsy and decerebration (1/46; 2.1%). The most common meningeal pathogens were meningococcus in the youngest age group, gram negative-bacilli in second age group and pneumococcus in eldery age group. Initial single-agent antibiotic therapy (ceftriaxone) was used in 17 patients (37%): in 60% of patients in the youngest age group and in 44% of cases in the second age group. 29 patients (63%) were treated with initial dual-agent antibiotic therapy; ceftriaxone in combination with vancomycin or ampicillin. Ceftriaxone and ampicillin were the most commonly used antibiotics for the initial empirical therapy in adults > 50 years of age. All adults > 60 years of age were treated with the initial dual-agent antibiotic therapy as in this age group was recorded the highest mortality rate (M=27%) and adverse outcome (64%). Resistance of pathogens to antimicrobics was recorded in cases caused by gram-negative bacilli and was associated with greater risk for developing neurological complications (p=0.09). None of the gram-negative bacilli were resistant to carbapenems; all were resistant to ampicillin while 5/7 isolates were resistant to cefalosporins. Resistance of meningococci and pneumococci to beta-lactams was not recorded. There were no statistical differences in the occurrence of neurological complications (p > 0.05), resistance of meningeal pathogens to antimicrobics (p > 0.05) and the inital antimicrobial therapy (one vs. two antibiotics) concerning group-ages in adults. Conclusions: The initial antibiotic therapy with ceftriaxone alone or in combination with vancomycin or ampicillin did not cover cases caused by gram-negative bacilli.

Keywords: adults, bacterial meningitis, outcomes, therapy

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Authors: Ayse Gul Bilen

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Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed antidepressants that are used clinically for the treatment of anxiety disorders, obsessive-compulsive disorder (OCD), panic disorders and eating disorders. The first SSRI, fluoxetine (sold under the brand names Prozac and Sarafem among others), had an adverse effect profile better than any other available antidepressant when it was introduced because of its selectivity for serotonin receptors. They have been considered almost free of side effects and have become widely prescribed, however questions about the safety and tolerability of SSRIs have emerged with their continued use. Most SSRI side effects are dose-related and can be attributed to serotonergic effects such as nausea. Continuous use might trigger adverse effects such as hyponatremia, tremor, nausea, weight gain, sleep disturbance and sexual dysfunction. Moderate toxicity can be safely observed in the hospital for 24 hours, and mild cases can be safely discharged (if asymptomatic) from the emergency department once cleared by Psychiatry in cases of intentional overdose and after 6 to 8 hours of observation. Although fluoxetine is relatively safe in terms of overdose, it might still be cardiotoxic and inhibit platelet secretion, aggregation, and plug formation. There have been reported clinical cases of seizures, cardiac conduction abnormalities, and even fatalities associated with fluoxetine ingestions. While the medical literature strongly suggests that most fluoxetine overdoses are benign, emergency physicians need to remain cognizant that intentional, high-dose fluoxetine ingestions may induce seizures and can even be fatal due to cardiac arrhythmia. Our case is a 35-year old female patient who was sent to ER with symptoms of confusion, amnesia and loss of orientation for time and location after being found wandering in the streets unconsciously by police forces that informed 112. Upon laboratory examination, no pathological symptom was found except sinus tachycardia in the EKG and high levels of aspartate transaminase (AST) and alanine transaminase (ALT). Diffusion MRI and computed tomography (CT) of the brain all looked normal. Upon physical and sexual examination, no signs of abuse or trauma were found. Test results for narcotics, stimulants and alcohol were negative as well. There was a presence of dysrhythmia which required admission to the intensive care unit (ICU). The patient gained back her conscience after 24 hours. It was discovered from her story afterward that she had been using fluoxetine due to post-traumatic stress disorder (PTSD) for 6 months and that she had attempted suicide after taking 3 boxes of fluoxetine due to the loss of a parent. She was then transferred to the psychiatric clinic. Our study aims to highlight the need to consider toxicologic drug use, in particular, the abuse of selective serotonin reuptake inhibitors (SSRIs), which have been widely prescribed due to presumed safety and tolerability, for diagnosis of patients applying to the emergency room (ER).

Keywords: abuse, amnesia, fluoxetine, intoxication, SSRI

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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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Authors: Soumia Hammadi, Imane Nouacer, Lamine Hamida, Younes A. Hammadi, Rachid Chaibi

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Aims and objective: In the present work, we investigate the impact of both acute and chronic diabetes mellitus induced by streptozotocin (STZ) on the hypothalamus of the small gerbil (Gerbillus gerbillus). In this purpose, we aimed to study the histologic structure of the gerbil’s hypothalamic supraoptic (NSO) and paraventricular nucleus (NPV) at two distinct time points: two days and 30 days after diabetes onset. Methods: We conducted our investigation using 19 adult male gerbils weighing 25 to 28 g, divided into three groups as follow: Group I: Control gerbils (n=6) received an intraperitoneal injection of citrate buffer. Group II: STZ-diabetic gerbils (n=8) received a single intraperitoneal injection of STZ at a dose of 165 mg/kg of body weight. Diabetes onset (D0) is considered with the first hyperglycemia level exceeding 2,5 g/L. This group was further divided into two subgroups: Group II-1: Experimental Gerbils, at acute state of diabetes (n=8) sacrificed after 02 days of diabetes onset, Group II-2: Experimental Gerbils at chronic state of diabetes (n=7) sacrificed after 30 days of diabetes onset. Two and 30 days after diabetes onset, gerbils had blood drawn from the retro-orbital sinus into EDTA tubes. After centrifugation at -4°C, plasma was frozen at -80°C for later measurement of Cortisol, ACTH, and insulin. Afterward, animals were decapitated; their brain was removed, weighed, fixed in aqueous bouin, and processed and stained with Toluidine Bleu stain for histo-stereological analysis. A comparison was done with control gerbils treated with citrate buffer. Results: Compared to control gerbils, at 02 Days post diabetes onset, the neuronal somata of the paraventricular (NPV) and supraoptic nuclei (NSO) expressed numerous vacuoles of various sizes, we distinct also a neuronal juxtaposition and several unidentifiable vacuolated profiles were also seen in the neuropile. At the same time, we revealed the presence of à shrunken and condensed nuclei, which seem to touch the parvocellular neurons ( NPV); this leads us to suggest the presence of an apoptotic process in the early stage of diabetes. At 30 days of diabetes mellitus, the NPV manifests a few neurons with a distant appearance, in addition the magnocellular neurons in both NPV and NSO were hypertrophied with a rich euchromatin nucleus, a well-defined nucleolus, and a granular cytoplasm. Despite the neuronal degeneration at this stage, unexpectedly, ACTH registers a continuous significant high level compared to the early stage of diabetes mellitus and to control gerbils. Conclusion: The results suggest that the induction of diabetes mellitus using STZ in the small gerbils lead to alterations in the structure and morphology of the hypothalamus and hyper-secretion of ACTH and cortisol, possibly indicating hyperactivity of the hypothalamo-pituitary adrenal axis (HPA) during both the early and later stages of the disease. The subsequent quantitative evaluation of CRH, immunehistochemical evaluation of apoptosis, and oxidative stress assessment could corroborate our results.

Keywords: diabetes type 1., streptozotocin., small gerbil., hypothalamus., paraventricular nucleus., supraoptic nucleus.

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Authors: Patricia Shirley Almeida Prado, Liz Brito, Selma Paixão Argollo, Gracie Moreira, Leticia Matos Sobrinho

Abstract:

Diffuse idiopathic skeletal hyperostosis (DISH) is a degenerative bone disease also known as Forestier´s disease and ankylosing hyperostosis of the spine is characterized by a tendency toward ossification of half the anterior longitudinal spinal ligament without intervertebral disc disease. DISH is not considered to be osteoarthritis, although the two conditions commonly occur together. Diagnostic criteria include fusion of at least four vertebrae by bony bridges arising from the anterolateral aspect of the vertebral bodies. These vertebral bodies have a 'dripping candle wax' appearance, also can be seen periosteal new bone formation on the anterior surface of the vertebral bodies and there is no ankylosis at zygoapophyseal facet joint. Clinically, patients with DISH tend to be asymptomatic some patients mention moderate pain and stiffness in upper back. This disease is more common in man, uncommon in patients younger than 50 years and rare in patients under 40 years old. In modern populations, DISH is found in association with obesity, (type II) diabetes; abnormal vitamin A metabolism and also associated with higher levels of serum uric acid. There is also some association between the increase of risk of stroke or other cerebrovascular disease. The DISH condition can be confused with Heterotopic Ossification, what is the bone formation in the soft tissues as the result of trauma, wounding, surgery, burnings, prolonged immobility and some central nervous system disorder. All these conditions have been described extensively as myositis ossificans which can be confused with the fibrodysplasia (myositis) ossificans progressive. As in the DISH symptomatology it can be asymptomatic or extensive enough to impair joint function. A third confusion osteoarthritis disease that can bring confusion are the enthesopathies that occur in the entire skeleton being common on the ischial tuberosities, iliac crests, patellae, and calcaneus. Ankylosis of the sacroiliac joint by bony bridges may also be found. CASE 1: this case is skeletal remains presenting skull, some vertebrae and scapulae. This case remains unidentified and due to lack of bone remains. Sex, age and ancestry profile was compromised, however the DISH pathognomonic findings and diagnostic helps to estimate sex and age characteristics. Moreover to presenting DISH these skeletal remains also showed some bone alterations and non-metrics as fusion of the first vertebrae with occipital bone, maxillae and palatine torus and scapular foramen on the right scapulae. CASE 2: this skeleton remains shows an extensive bone heterotopic ossification on the great trochanter area of left femur, right fibula showed a healed fracture in its body however in its inteosseous crest there is an extensive bone growth, also in the Ilium at the region of inferior gluteal line can be observed some pronounced bone growth and the skull presented a pronounced mandibular, maxillary and palatine torus. Despite all these pronounced heterotopic ossification the whole skeleton presents moderate bone overgrowth that is not linked with aging, since the skeleton belongs to a young unidentified individual. The appropriate osteopathological diagnosis support the human identification process through medical reports and also assist with epidemiological data that can strengthen vulnerable anthropological estimates.

Keywords: bone disease, DISH, human identification, human remains

Procedia PDF Downloads 301

Authors: Ali Baker, Russel Krawitz

Abstract:

This paper describes a rare occurrence where a potentially fatal complication of COVID-19 infection (MIS-A) was misdiagnosed as an acute abdomen. As most patients with this syndrome present with fever and gastrointestinal symptoms, they may inadvertently fall under the care of the surgical unit. However, unusual imaging findings and a poor response to anti-microbial therapy should prompt clinicians to suspect a non-surgical etiology. More than half of MIS-A patients require ICU admission and vasopressor support. Prompt referral to a physician is key, as the cornerstone of treatment is IVIG and corticosteroid therapy. A 32 year old woman presented with right sided abdominal pain and fevers. She had also contracted COVID-19 two months earlier. Abdominal examination revealed generalised right sided tenderness. The patient had raised inflammatory markers, but other blood tests were unremarkable. CT scan revealed extensive lymphadenopathy along the ileocolic chain. The patient proved to be a diagnostic dilemma. She was reviewed by several surgical consultants and discussed with several inpatient teams. Although IV antibiotics were commenced, the right sided abdominal pain, and fevers persisted. Pan-culture returned negative. A mild cholestatic derangement developed. On day 5, the patient underwent preparation for colonoscopy to assess for a potential intraluminal etiology. The following day, the patient developed sinus tachycardia and hypotension that was refractory to fluid resuscitation. That patient was transferred to ICU and required vasopressor support. Repeat CT showed peri-portal edema and a thickened gallbladder wall. On re-examination, the patient was Murphy’s sign positive. Biliary ultrasound was equivocal for cholecystitis. The patient was planned for diagnostic laparoscopy. The following morning, a marked rise in cardiac troponin was discovered, and a follow-up echocardiogram revealed moderate to severe global systolic dysfunction. The impression was post-COVID MIS with myocardial involvement. IVIG and Methylprednisolone infusions were commenced. The patient had a great response. Vasopressor support was weaned, and the patient was discharged from ICU. The patient continued to improve clinically with oral prednisolone, and was discharged on day 17. Although MIS following COVID-19 infection is well-described syndrome in children, only recently has it come to light that it can occur in adults. The exact incidence is unknown, but it is thought to be rare. A recent systematic review found only 221 cases of MIS-A, which could be included for analysis. Symptoms vary, but the most frequent include fever, gastrointestinal, and mucocutaneous. Many patients progress to multi-organ failure and require vasopressor support. 7% succumb to the illness. The pathophysiology of MIS is only partly understood. It shares similarities with Kawasaki disease, macrophage activation syndrome, and cytokine release syndrome. Importantly, by definition, the patient must have an absence of severe respiratory symptoms. It is thought to be due to a dysregulated immune response to the virus. Potential mechanisms include reduced levels of neutralising antibodies and autoreactive antibodies that promote inflammation. Further research into MIS-A is needed. Although rare, this potentially fatal syndrome should be considered in the unwell surgical patient who has recently contracted COVID-19 and poses a diagnostic dilemma.

Keywords: acute-abdomen, MIS, COVID-19, ICU

Procedia PDF Downloads 95