Search results for: post facial syndrome

Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: Nancy Wilson

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In utero, fetal drug exposure is prevalent amongst birthing facilities. Assessment tools for neonatal abstinence syndrome (NAS) are often cumbersome and ill-fitting, harboring immense subjectivity. This paradox often leads the clinical assessor to be hypervigilant when assessing the newborn for subtle symptoms of NAS, often mistaken for normal newborn behaviors. As a quality improvement initiative, this project led to a more adaptable NAS tool termed eat, sleep, console (ESC). This function-based NAS assessment scores the infant based on the ability to accomplish three basic newborn necessities- to sleep, to eat, and to be consoled. Literature supports that ESC methodology improves patient and family outcomes while providing more cost-effective care.

Keywords: neonatal abstinence syndrome, neonatal opioid withdrawal, maternal substance abuse, pregnancy, and addiction, Finnegan neonatal abstinence syndrome tool, eat, sleep, console

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Authors: Meryem Abi-Ayad, Biagio Arcidiacono, Eusebio Chiefari, Daniela Foti, Mohamed Benyoucef, Antonio Brunetti

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Lipoprotein Lipase (LPL) is a key enzyme for lipid metabolism; its genetic polymorphism can be a candidate for modulating lipids parameters in metabolic syndrome. The objective of the present study was to determine whether lipoproteins lipase polymorphisMetS (LPL-HindIII) could be associated with moderate hypertriglyceridemia (secondary to metabolism syndrome). The polymorphism Hind III (rs320) was assessed by PCR-RFLP in 51 MetS patients and 17 healthy controls from the hospital in Tlemcen. The logistic regression analyses showed no significant association with Hind III genotype and hypertriglyceridemia (TG ≥ 1,5g/l or TG lower treatment) (P=0,455), metabolic syndrome (P=0,455), hypertension (P=0,802) and type 2 diabetes (P=0,144). In terms of plasma biomarkers, although not statistically significant, there was a difference in TG levels (P > 0,05), which was lowest among carriers of the homogenous mutant allele (H-). In this study, there was no association between the rare allele (H-) and disease protection, and between the frequent allele (H+) and disease prevalence (hypertriglyceridemia, metabolic syndrome, hypertension, type 2 diabetes).

Keywords: moderate secondary hypertriglyceridemia, metabolic syndrome, lipids, polymorphism lipoprotein lipase, HindIII(rs320)

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Authors: Marina G. Galitskaya, Svetlana G. Makarova, Andrey P. Fisenko.

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Children on medication-induced immunosuppression are at high risk of developing severe course infectious diseases. Therefore, preventive vaccination is especially important for these children. However, due to the immunosuppressive effects of treatment for the underlying disease, the effectiveness of vaccination may decrease below the protective level. In a multidisciplinary children's medical center, post-vaccination immunity was studied in 79 children aged 4-17 years. The children were divided into 2 groups: Group 1 (38 children) with kidney pathology (Nephrotic Syndrome) and Group 2 (41 children) with inflammatory bowel diseases (Ulcerative Colitis, Crohn's Disease). Both groups of children were vaccinated according to the national vaccination calendar and received immunosuppressive therapy (prednisolone, methotrexate, cyclosporine, and other drugs) for at least 1 year. Using the enzyme-linked immunosorbent assay method, specific IgG antibodies to vaccine-preventable infections were determined: measles, rubella, mumps, diphtheria, pertussis, tetanus, and hepatitis B. The study showed the percentage of children with positive IgG values for vaccine-preventable infections. The highest percentage of children had protective antibody levels to measles (84.2% in children with nephrotic syndrome and 92.6% in those with inflammatory bowel disease) and rubella (71% and 80.4%, respectively). The lowest percentage of children with protective antibodies was for hepatitis B (5.2% and 29.2% respectively). Antibodies to mumps, diphtheria, pertussis, and tetanus were found not in all children (from 39,4% to 82,9%). The remaining percentage of children did not have detectable IgG antibodies to vaccine-preventable infections. Not all children, despite the previous vaccination, preserved antibodies to vaccine-controlled infections and remained unprotected by specific IgG antibodies. The issue of a booster vaccine dose should be considered in children without contraindications to vaccination. Children receiving long-term immunosuppressive therapy require an individual vaccination approach, including a specific definition of the performed vaccination.

Keywords: immunosuppressive therapy, inflammatory bowel diseases, nephrotic syndrome, post-vaccination immunity, specific antibodies, vaccine-preventable infections.

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Authors: Tetyana Baydyk, Ernst Kussul, Sandra Bonilla Meza

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There are many articles that attempt to establish the role of different facial fragments in face recognition. Various approaches are used to estimate this role. Frequently, authors calculate the entropy corresponding to the fragment. This approach can only give approximate estimation. In this paper, we propose to use a more direct measure of the importance of different fragments for face recognition. We propose to select a recognition method and a face database and experimentally investigate the recognition rate using different fragments of faces. We present two such experiments in the paper. We selected the PCNC neural classifier as a method for face recognition and parts of the LFW (Labeled Faces in the Wild) face database as training and testing sets. The recognition rate of the best experiment is comparable with the recognition rate obtained using the whole face.

Keywords: face recognition, labeled faces in the wild (LFW) database, random local descriptor (RLD), random features

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Authors: Afsheen Masood, Sumaira Rashid, Shama Mazahir

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The main aim of this research is to evaluate the efficacy of a culturally adapted management program The Stepping Stones Positive Parenting Program (Tripple P; SSTP) for caregivers of children with autism spectrum disorders and Down syndrome. Positive psychology has catered new dimensions to the traditional perspectives of parenting. The current study was designed to determine the adoptions of positive parenting elements such as parenting styles, parental satisfaction, parental competency, and management of parental stress in alignment with behavioral problems of children with special needs after their parents get trained on Positive Parenting Techniques. This research study was devised in liaison with rehabilitation institute that is extending services for children with Autism Spectrum Disorder and Down syndrome. A Quasi experimental research design was employed with pre-test, post-test control group study in order to evaluate the changes in parenting patterns of parents with children (with Autism and Down syndrome). Caregivers of children diagnosed with Autism and Down syndrome between the age ranges of 25 to 45 years, n=20 from autism group and 20 from Down syndrome group (while their children with special needs in the age ranges of 8 to 14 years) participated in the current research. Parenting scale encompassing areas of parental efficacy, parental satisfaction was used in addition to Parenting Stress Index (SF), indigenously developed Child Behavior Problems Checklist and demographic sheet. Findings revealed statistically significant improvement for caregivers in intervention group from pretest to posttest situation. There was considerable decrease in reported mean behavioral issues of children with Down syndrome when parents in experimental group started practicing Positive Parenting Techniques with their special needs children. This change was somehow not recorded in parents of children with autism. Thus these findings establish the efficacy of culturally adapted parenting program that is evidence based and is established in western empirical research. This carries significant implication for practitioners in special needs domain and for school psychologists in Pakistan.

Keywords: Autism and Parenting, Downsyndrome and Parenting , Positive Parenting, Stepping Stone Positive Parenting Program, Mangement of Behavioral Problems with positive parenting

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Authors: Carmel Sofer, Dan Vilenchik, Ron Dotsch, Galia Avidan

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Studies investigating emotional facial expressions typically reveal consensus among observes regarding the meaning of basic expressions, whose number ranges between 6 to 15 emotional states. Given this limited number of discrete expressions, how is it that the human vocabulary of emotional states is so rich? The present study argues that perceivers use sequences of these discrete expressions as the basis for a much richer vocabulary of emotional states. Such mechanisms, in which a relatively small number of basic components is expanded to a much larger number of possible combinations of meanings, exist in other human communications modalities, such as spoken language and music. In these modalities, letters and notes, which serve as basic components of spoken language and music respectively, are temporally linked, resulting in the richness of expressions. In the current study, in each trial participants were presented with sequences of two images containing facial expression in different combinations sampled out of the eight static basic expressions (total 64; 8X8). In each trial, using single word participants were required to judge the 'state of mind' portrayed by the person whose face was presented. Utilizing word embedding methods (Global Vectors for Word Representation), employed in the field of Natural Language Processing, and relying on machine learning computational methods, it was found that the perceived meanings of the sequences of facial expressions were a weighted average of the single expressions comprising them, resulting in 22 new emotional states, in addition to the eight, classic basic expressions. An interaction between the first and the second expression in each sequence indicated that every single facial expression modulated the effect of the other facial expression thus leading to a different interpretation ascribed to the sequence as a whole. These findings suggest that the vocabulary of emotional states conveyed by facial expressions is not restricted to the (small) number of discrete facial expressions. Rather, the vocabulary is rich, as it results from combinations of these expressions. In addition, present research suggests that using word embedding in social perception studies, can be a powerful, accurate and efficient tool, to capture explicit and implicit perceptions and intentions. Acknowledgment: The study was supported by a grant from the Ministry of Defense in Israel to GA and CS. CS is also supported by the ABC initiative in Ben-Gurion University of the Negev.

Keywords: Glove, face perception, facial expression perception. , facial expression production, machine learning, word embedding, word2vec

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Authors: Mohamed M. Mashaly, Ahmed M. F. El Shiwi

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Background: Shoulder impingement syndrome is an encroachment of subacromial tissues, rotator cuff, subacromial bursa, and the long head of the biceps tendon, as a result of narrowing of the subacromial space. Activities requiring repetitive or sustained use of the arms over head often predispose the rotator cuff tendon to injury. Purpose: To compare between Combined effect therapeutic exercises and Shockwave therapy versus therapeutic exercises and phonophoresis in the treatment of shoulder impingement syndrome. Methods: Thirty patients diagnosed as shoulder impingement syndrome stage II Neer classification due to mechanical causes. Patients were randomly distributed into two equal groups. The first group consisted of 15 patients with a mean age of (45.46+8.64) received therapeutic exercises (stretching exercise of posterior shoulder capsule and strengthening exercises of shoulder muscles) and shockwave therapy (6000 shocks, 2000/session, 3 sessions, 2 weeks apart, 0.22mJ/mm^2) years. The second group consisted of 15 patients with a mean age of 46.26 (+ 8.05) received same therapeutic exercises and phonophoresis (3 times per week, each other day, for 4 consecutive weeks). Patients were evaluated pretreatment and post treatment for shoulder pain severity, shoulder functional disability, shoulder flexion, abduction and internal rotation motions. Results: Patients of both groups showed significant improvement in all the measured variables. In between groups difference the shock wave group showed a significant improvement in all measured variables than phonophoresis group. Interpretation/Conclusion: Combined effect of therapeutic exercises and shock wave were more effective than therapeutic exercises and phonophoresis on decreasing shoulder pain severity, shoulder functional disability, increasing in shoulder flexion, abduction, internal rotation in patients with shoulder impingement syndrome.

Keywords: shoulder impingement syndrome, therapeutic exercises, shockwave, phonophoresis

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Authors: Priya Saha, Sourav Dey Roy Jr., Debotosh Bhattacharjee, Mita Nasipuri, Barin Kumar De, Mrinal Kanti Bhowmik

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Biometric face recognition technology (FRT) has gained a lot of attention due to its extensive variety of applications in both security and non-security perspectives. It has come into view to provide a secure solution in identification and verification of person identity. Although other biometric based methods like fingerprint scans, iris scans are available, FRT is verified as an efficient technology for its user-friendliness and contact freeness. Accurate facial feature localization plays an important role for many facial analysis applications including biometrics and emotion recognition. But, there are certain factors, which make facial feature localization a challenging task. On human face, expressions can be seen from the subtle movements of facial muscles and influenced by internal emotional states. These non-rigid facial movements cause noticeable alterations in locations of facial landmarks, their usual shapes, which sometimes create occlusions in facial feature areas making face recognition as a difficult problem. The paper proposes a new hybrid based technique for automatic landmark detection in both neutral and expressive frontal and near frontal face images. The method uses the concept of thresholding, sequential searching and other image processing techniques for locating the landmark points on the face. Also, a Graphical User Interface (GUI) based software is designed that could automatically detect 16 landmark points around eyes, nose and mouth that are mostly affected by the changes in facial muscles. The proposed system has been tested on widely used JAFFE and Cohn Kanade database. Also, the system is tested on DeitY-TU face database which is created in the Biometrics Laboratory of Tripura University under the research project funded by Department of Electronics & Information Technology, Govt. of India. The performance of the proposed method has been done in terms of error measure and accuracy. The method has detection rate of 98.82% on JAFFE database, 91.27% on Cohn Kanade database and 93.05% on DeitY-TU database. Also, we have done comparative study of our proposed method with other techniques developed by other researchers. This paper will put into focus emotion-oriented systems through AU detection in future based on the located features.

Keywords: biometrics, face recognition, facial landmarks, image processing

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Authors: Kanza Tahir, Mubassar Fida, Rashna Hoshang Sukhia

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Background/Objective: A contemporary concept states that dental midline deviation towards the direction of facial flow line (FFL) can mask the compromised smile esthetics. This study aimed to identify a range of midline deviations that can be perceived towards or away from the FFL influencing smile esthetics. Materials and methods: A cross-sectional study was conducted using a frontal smile photograph of an adult female. The photograph was altered on Adobe Photoshop software into six different photographs by deviating the dental midlines towards and away from the FFL. A constant deviation of the chin towards the left side was incorporated in all the photographs. Forty-three laypersons (LP)and dental professionals (DPs) evaluated those photographs onVisual Analog Scale (VAS). An Independent t-test was used to compare the perception of dental midline deviation between LP and DPs. Simple linear regression was run to identify the factors associated with the VAS scoring. Results: A statistically significant difference was observed for picture two with 4 mm towards FFL in the perception of midline deviation between LP and DPs. LP could not perceive the midline deviations up to 4 mm, while DPs were able to perceive deviations above 2 mm. Age was positively associated with the VAS score, while the female gender had a negative association. Limitations: Only one component of mini-esthetics was studied. This study did not include an ideal picture for comparison. Only one female subject was studied of normal facial type. Conclusions: 2-4 mm of midline deviation towards the facial flow line can be tolerated by laypersons and dental professionals.

Keywords: midline, facial flow line, smile esthetics, female

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Authors: S. H. Jang

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Posterior reversible encephalopathy syndrome (PRES) is characterized by acute neurologic symptoms (visual loss, headache, altered mentality and seizures) and by typical imaging findings (bilateral subcortical and cortical edema with predominatly posterior distribution). Nephrotic syndrome is a syndrome comprising signs of proteinuria, hypoalbuminemia, and edema. It is well known that hypertension predispose patient with nephrotic syndrome to PRES. A 45-year old male was referred for suddenly developed vertigo, disequilibrium. He had previous history of nephrotic syndrome. His medical history included diabetes controlled with medication. He was hospitalized because of generalized edema a few days ago. His vital signs were stable. On neurologic examination, his mental state was alert. Horizontal nystagmus to right side on return to primary position was observed. He showed good grade motor weakness and ataxia in right upper and lower limbs without other sensory abnormality. Brain MRI showed increased signal intensity in FLAIR image, decreased signal intensity in T1 image and focal enhanced lesion in T1 contrast image at whole midbrain, pons and cerebellar peduncle symmetrically, which was compatible with vasogenic edema. Laboratory findings showed severe proteinuria and hypoalbuminemia. He was given intravenous dexamethasone and diuretics to reduce vasogenic edema and raise the intra-vascular osmotic pressure. Nystagmus, motor weakness and limb ataxia improved gradually over 2 weeks; He recovered without any neurologic symptom and sign. Follow-up MRI showed decreased vasogenic edema fairly. We report a case of brain stem PRES in normotensive, nephrotic syndrome patient.

Keywords: posterior reversible encephalopathy syndrome, MRI, nephrotic syndrome, vasogenic brain edema

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Authors: Viyango Pandian, Kumaresh Athiyappan

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Pelvic congestion Syndrome (PCS) is usually seen in multiparous women who give history of chronic dull-aching pelvic pain. We report a case of a 17 year old unmarried female, who presented with acute onset of chronic dull-aching abdominal pain in the left iliac fossa, which particularly increased during menstruation and was finally diagnosed to be pelvic congestion syndrome. On ultrasonography, multiple tortuous and dilated veins were observed in the left adnexa. Both ovaries appeared normal in size, volume and echotexture. Computed tomography (CT) angiography was performed to precisely delineate the venous pathway and to assess any associated abnormality; which showed a dilated and tortuous left ovarian vein with an anomalous course around the left kidney and draining into the left renal vein. Clinical parameters and hormonal levels were within normal limits. This is a rare case of anomalous course of left ovarian vein associated with pelvic congestion syndrome.

Keywords: anomalous course of ovarian vein, computed tomography, pelvic congestion syndrome, ultrasonography

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Authors: Adrian Reynaldo Sudirman, Siti Farida, Aisyah Aminy Maulidina, Caren Andika Surbakti

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Sedentary lifestyle and imbalance consumption pattern has made metabolic syndrome as the global time bomb phenomenon in the world. The increasing tendency of people in consuming high amount of fructose and cholesterol food has worsened this issue in the society. Pancreas steatosis become one of the most comorbid when early diagnosis and prompt treatment has not been applied on hyperglycemic and hyperlipidemic condition in metabolic syndrome patient. Gemfibrozil become the drug of choice to prevent this issue, yet the efficacy of this regiment was still questionable. Acalypha indica Linn. is the herb that has protective effect on hyperlipidemic and hyperglycemic condition. This study was aimed to compare therapeutic effect of gemfibrozil (G) and Acalypha indica Linn. (AI) on high fructose and cholesterol diet-induced pancreas steatosis in Sprague-Dawley mice. The post induction mice were divided into four groups: control, gemfibrozil, AI extract, and G+AI combination regiment. Each group received four weeks intervention. The result of statistical analysis using the One-Way ANOVA test and Tukey Post Hoc test showed significant decrease in pancreatic steatosis between the control group and administered Acalypha indica group (p = 0.004, 95% CI: 0.170-0.959) and the group administered with a combination of Gemfibrozil-Acalypha indica (p = 0.023, 95% CI: 0.537-0.813). The protective effect of Acalypha indica Linn. shows that this plant has the potential as therapeutic option in overcoming the condition of pancreas steatosis in metabolic syndrome.

Keywords: Acalypha Indica Linn., Cholesterol, Fructose, Gemfibrozil, Pancreas Steatosis

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Authors: Srikanta Tagore Sarkar, Prasanta Kumar Mandal, Dibakar Roy

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The association of a capitate fracture with a scaphoid fracture has been termed as the naviculocapitate syndrome. The existence of some nondisplaced fractures of scaphoid and capitate with or without the fracture of lunate or radius suggests that there is a spectrum of these injuries, and this confuses the terminology. With our case; we report an unusual variety of this naviculocapitate syndrome with distal radial Colles fracture in addition to the nondisplaced fractures of the scaphoid, capitate and the dorsal lip of radial fracture. When we looked at the literature there is no another Colles fracture reported together with undisplaced scapho-capitate syndrome. The coronal and sagittal images that obtained from the MDCT (Multidetector computed tomography) is useful and effective imaging modality to diagnose complex wrist fractures with more details that are not detected in X-rays.

Keywords: scaphoid, capitate, Colles’ fracture, syndrome, MDCT, unusual

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Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: K. Mardaleishvili, G. Loladze, G. Shatirishivili, D. Chakhunashvili, A. Vishnevskaya, Z. Kakabadze

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Benign osteoblastoma is a benign tumor of the bone, usually affecting the vertebrae and long tubular bones. It is a rarely seen tumor of the facial bones. The authors present a case of a 28-year-old male patient with a tumor in mandibular body. The lesion was radically resected and histological analysis of the specimen demonstrated features typical of a benign osteoblastoma. The defect of the jaw was reconstructed with titanium implants and decellularized and lyophilized cattle bone matrix with mesenchymal bone marrow stem cells transplantation. This presentation describes the procedures for rehabilitating a patient with decellularized bone scaffold in the region of the face, recovering the facial contours and esthetics of the patient.

Keywords: facial bones, osteoblastoma, stem cells, transplantation

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Authors: Aamna Tufail, Kajal Kotecha, Iordanis Toursounidis, Ravinder Pabla

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Introduction/Aims: Acute Myeloid Leukaemia (AML) is a part of leukaemic group of hematopoietic disorders with a varying range of presentations, including oro-facial manifestations. Early recognition and management are essential for favourable outcomes. Materials and Methods: We present our experience, clinical presentation, and clinical photographs of a patient with previously undiagnosed AML who presented with oral symptoms to the emergency department of our hospital. An analysis of clinical characteristics, diagnostic investigations, and management modalities was performed. Results/Statistics: A 58-year-old man presented to A&E reporting an 11-day history of right sided facial swelling, acute TMJ symptoms, and oral discomfort. A dentist ruled out acute dental causes one day post onset of symptoms. Initial assessment was anatomically inconsistent and did not reveal a routine oral or maxillofacial etiology. Detailed clinical examination demonstrated fever, generalised pallor, swelling and erythema of right nasolabial region, bilateral masseteric tenderness, intraoral palatal ecchymosis, palatal ulceration, buccal and labial petechiae, cervical lymphadenopathy, and haematoma on dorsum of right hand overlying right 2nd metacarpal joint. Suspecting a systemic medical cause, we requested haematological investigations, which revealed neutropenia, thrombocytopenia, and anaemia. Flow cytometry confirmed CD34 + AML. Oral discomfort was managed symptomatically. The patient was referred to a tertiary care centre for acute haematologic care, where he was treated with IV antibiotics and continuing cycles of chemotherapy. Conclusions/Clinical Relevance: Oro-facial manifestations may be the first clinical sign of AML. Awareness of its features is vital in early diagnosis. In this context, dentists and oral medicine specialists can play an important role in detecting clinical signs of haematological disorders such as AML.

Keywords: acute myeloid leukaemia, oral symptoms, ulceration, diagnosis, management

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Authors: S. Alireza Mirghasemi, Elly Trepman, Mohammad Saleh Sadeghi, Narges Rahimi Gabaran, Shervin Rashidinia

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Bone marrow edema syndrome (BMES) is an uncommon and self-limited syndrome characterized by atraumatic extremity pain with unknown of etiology. Symptom onset may include sudden or gradual swelling and pain at rest or during activity, usually at night. This syndrome mostly affects middle-aged men and younger women who have pain in the lower extremities. The most common sites involved with BMES, in decreasing order of frequency, are the bones about the hip, knee, ankle, and foot. The diagnosis of BMES is made with magnetic resonance imaging to exclude other causes of bone marrow edema. The correct diagnosis often is delayed because of the low prevalence and nonspecific signs in the foot and ankle. This delay may intensify bone pain and impair patient function and quality of life. The goal of BMES treatment is to relieve pain and shorten disease duration. Treatment options are limited and may include symptomatic treatment, pharmacologic treatment, and surgery.

Keywords: transient osteoporosis, bone marrow edema syndrome, iloprost, bisphosphonates

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Authors: A. T. Nakysh, A. S. Idrisov, S. A. Baidurin

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This work presents the results of a study the incidence of metabolic syndrome (MetS) in women with impaired reproductive function (IRF) according to the data of Astana, Kazakhstan. The anthropometric, biochemical and instrumental studies were conducted among 515 women, of which 53 patients with MetS according to IDF criteria, 2006, were selected. The frequency of occurrence of the IRF, due to MetS – 10.3% of cases according to the data of Astana. In women of childbearing age with IRF and the MetS, blood pressure (BP), indicators of carbohydrate and lipid metabolism were significantly higher and the level of high density lipoprotein (HDL) significantly lower compared to the same in women with the IRF without MetS. The hyperandrogenism, the hyperestrogenemia, the hyperprolactinemia and the hypoprogesteronemia were found in the patients with MetS and IRF, indicating the impact of MetS on the development of the polycystic ovary syndrome in 28% of cases and hyperplastic processes of the myometrium in 20% of cases.

Keywords: dyslipidemia, insulin resistance, metabolic syndrome, reproductive disorders, obesity

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Authors: Muhammad Fiaz, Muhammad Saqlain, Abid Mahmood, S. M. Saqlan Naqvi, Rizwan Aziz Qazi, Ghazala Kaukab Raja

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Background: Metabolic Syndrome is a clustering of multiple risk factors including central obesity, hypertension, dyslipidemia and hyperglycemia. These risk phenotypes of metabolic syndrome (MetS) prevalent world-wide, Therefore we aimed to identify the frequency of risk phenotypes among metabolic syndrome subjects in local adult Pakistani population. Methods: Screening of subjects visiting out-patient department of medicine, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad was performed to assess the occurrence of risk phenotypes among MetS subjects in Pakistani population. The Metabolic Syndrome was defined based on International Diabetes Federation (IDF) criteria. Anthropometric and biochemical assay results were recorded. Data was analyzed using SPSS software (16.0). Results: Our results showed that dyslipidemia (31.50%) and hyperglycemia (30.50%) was most population specific risk phenotypes of MetS. The results showed the order of association of metabolic risk phenotypes to MetS as follows hyperglycemia>dyslipidemia>obesity >hypertension. Conclusion: The hyperglycemia and dyslipidemia were found be the major risk phenotypes among the MetS subjects and have greater chances of deceloping MetS among Pakistani Population.

Keywords: dyslipidemia, hypertention, metabolic syndrome, obesity

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Authors: Choki, Supatchai Boonpratham, Suwannee Luppanapornlarp

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The objective of this study was to find a correlation between cephalometric measurements and visual perception of facial profile in skeletal type II patients. In this study, 250 lateral cephalograms of female patients from age, 20 to 22 years were analyzed. The profile outlines of all the samples were hand traced and transformed into silhouettes by the principal investigator. Profile ratings were done by 9 orthodontists on Visual Analogue Scale from score one to ten (increasing level of convexity). 37 hard issue and soft tissue cephalometric measurements were analyzed by the principal investigator. All the measurements were repeated after 2 weeks interval for error assessment. At last, the rankings of visual perceptions were correlated with cephalometric measurements using Spearman correlation coefficient (P < 0.05). The results show that the increase in facial convexity was correlated with higher values of ANB (A point, nasion and B point), AF-BF (distance from A point to B point in mm), L1-NB (distance from lower incisor to NB line in mm), anterior maxillary alveolar height, posterior maxillary alveolar height, overjet, H angle hard tissue, H angle soft tissue and lower lip to E plane (absolute correlation values from 0.277 to 0.711). In contrast, the increase in facial convexity was correlated with lower values of Pg. to N perpendicular and Pg. to NB (mm) (absolute correlation value -0.302 and -0.294 respectively). From the soft tissue measurements, H angles had a higher correlation with visual perception than facial contour angle, nasolabial angle, and lower lip to E plane. In conclusion, the findings of this study indicated that the correlation of cephalometric measurements with visual perception was less than expected. Only 29% of cephalometric measurements had a significant correlation with visual perception. Therefore, diagnosis based solely on cephalometric analysis can result in failure to meet the patient’s esthetic expectation.

Keywords: cephalometric measurements, facial profile, skeletal type II, visual perception

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Authors: Koray U. Erbas

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Neural networks are appealing for many applications since they are able to learn complex non-linear relationships between input and output data. As the number of neurons and layers in a neural network increase, it is possible to represent more complex relationships with automatically extracted features. Nowadays Deep Neural Networks (DNNs) are widely used in Computer Vision problems such as; classification, object detection, segmentation image editing etc. In this work, Facial Emotion Recognition task is performed by proposed Convolutional Neural Network (CNN)-based DNN architecture using FER2013 Dataset. Moreover, the effects of different hyperparameters (activation function, kernel size, initializer, batch size and network size) are investigated and ablation study results for Pooling Layer, Dropout and Batch Normalization are presented.

Keywords: convolutional neural network, deep learning, deep learning based FER, facial emotion recognition

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Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

Abstract:

Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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Authors: Jarek Krajewski, David Daxberger, Luzi Beyer

Abstract:

Finding objective and non-intrusive measurements of emotional and psychopathological states (e.g., post-traumatic stress disorder, PTSD) is an important challenge. Thus, the proposed approach here uses Photoplethysmographic imaging (PPGI) applying facial RGB Cam videos to estimate heart rate levels. A pipeline for the signal processing of the raw image has been proposed containing different preprocessing approaches, e.g., Independent Component Analysis, Non-negative Matrix factorization, and various other artefact correction approaches. Under resting and constant light conditions, we reached a sensitivity of 84% for pulse peak detection. The results indicate that PPGI can be a suitable solution for providing heart rate data derived from these indirectly post-traumatic stress states.

Keywords: heart rate, PTSD, PPGI, stress, preprocessing

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Authors: Cheng-Yu Tsai, Wen-Te Liu, Yin-Tzu Lin, Chen-Chen Lo, Kang Lo

Abstract:

Background: Driving drowsiness related to inadequate or disordered sleep accounts for a major percentage of traffic accidents. Sleep-disordered breathing (SDB) syndrome is a common respiratory disorder during sleep. However, the effects of SDB syndrome on driving fatigue remain unclear. Objective: This study aims to investigate the relationship between SDB pattern and driving drowsiness. Methodologies: The physical condition while driving was obtained from the questionnaires to classify the state of driving fatigue. SDB syndrome was quantified as the polysomnography, and the air flow pattern was collected by the thermistor and nasal pressure cannula. To evaluate the desaturation, the mean hourly number of greater than 3% dips in oxygen saturation was sentenced by reregistered technologist during examination in a hospital in New Taipei City (Taiwan). The independent T-test was used to investigate the correlations between sleep disorders related index and driving drowsiness. Results: There were 880 subjects recruited in this study, who had been done polysomnography for evaluating severity for obstructive sleep apnea syndrome (OSAS) as well as completed the driver condition questionnaire. Four-hundred-eighty-four subjects (55%) were classified as fatigue group, and 396 subjects (45%) were served as the control group. Significantly higher values of snoring index (242.14 ± 205.51 /hours) were observed in the fatigue group (p < 0.01). The value of respiratory disturbance index (RDI) (31.82 ± 19.34 /hours) in fatigue group were significantly higher than the control group (p < 0.01). Conclusion: We observe the considerable association between SDB syndrome and driving drowsiness. To promote traffic safety, SDB syndrome should be controlled and alleviated.

Keywords: driving drowsiness, sleep-disordered breathing syndrome, snoring index, respiratory disturbance index.

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Authors: Elena Jiménez Lidueña, Noelia Santos Muriel, Patricia López Resa, Noelia Pulido García, Esther Moraleda Sepúlveda

Abstract:

In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profiles. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder and, on the other hand, shows a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: Down Syndrome, Autism, comorbidity, linguistic

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Authors: Mohamed M. Diab, Fahmy E. Mohamed, Alaa Balbaa

Abstract:

Background: Myofascial pain syndrome a common type of non-articular musculoskeletal pain, is a condition associated with regional pain and muscle tenderness characterized by the presence of hypersensitive nodules. Objectives: the purpose of this study is to compare between the effects of manual progressive ischemic pressure versus the effect of post isometric facilitation in the treatment of Rhomboid latent myofascial trigger points. Methods: six patients had participated in this study. Patients divided into two groups. Group A treated by manual progressive ischemic pressure and traditional physical therapy program. Group B treated by post isometric facilitation and traditional physical therapy program. Treatment program was for 6 sessions over two week’s period. Result: Statistical analysis revealed that there is no significant difference in post treatment from pretreatment in pain severity (VAS) in myofascial trigger points with Rhomboid muscles) and Pain pressure threshold (PPT) for tenderness at both groups (A,B). Conclusion: ischemic pressure technique appear to be no more effective than post isometric facilitation in treatment of rhomboids latent myofacial trigger point.

Keywords: Rhmoiboid trigger point, myofacila trigger point, ischemic pressure, post isometric facilitation

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Authors: Taraneh Ashrafi Motlagh, Abdolrasoul Daneshjoo

Abstract:

Background and Aim: Increased fatigue causes injuries; the purpose of this article was to investigate the angular displacement of the hip and knee joints in girls with patellofemoral syndrome. Materials and Methods: Thirty girls with an average age (age 28.73±1.83, height 168.49±5.59, weight 63.73±12.73) participated in this study in two groups of 15, experimental and control. The jet evaluation test was taken from the subjects' knee and thigh angle, and then these tests were repeated with the application of different inclines of the treadmill; the tests were examined in a neutral position and in a positive and negative slope of 5 degrees. The mean and standard deviation were used to describe the data, and the Shapirovik test was used for the normalization of the data to compare and examine the variables in the two research groups using an independent t-test and repeated analysis of variance at a significance level of 0.05. Conclusion: In general, according to the current studies of people with patellofemoral syndrome, running on steep inclines, as well as running on a treadmill and making the incline angle of the treadmill within the limit of minus 5% to plus 5%, does not affect the improvement of this condition, and it is not recommended. And according to the research, girls with patellofemoral syndrome should be placed on the treadmill at an inclined angle to run.

Keywords: patellofemoral syndrome, angular displacement of the knee, angular displacement of the thigh

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Authors: Xu Yifei, Le Yining, Yang Qingluan, Tu Yanjie

Abstract:

Objective: This study aims to investigate the distribution features of Traditional Chinese Medicine (TCM) syndromes and syndrome elements in Epstein-Barr virus-associated diseases and then explores the relations between TCM syndromes or syndrome elements and laboratory indicators of Epstein-Barr virus-associated diseases. Methods: A cross-sectional study of 70 patients with EBV infection was described. We assessed the diagnostic information and laboratory indicators of these patients from Huashan Hospital Affiliated to Fudan University between November 2017 and July 2019. The disease diagnosis and syndrome differentiation were based on the diagnostic criteria of EBV-associated diseases and the theory of TCM respectively. Confidence correlation analysis, logistic regression analysis, cluster analysis, and the Sankey diagram were used to analyze the correlation between the data. Results: The differentiation of the 4 primary TCM syndromes in the collected patients was correlated with the indexes of immune function, liver function, inflammation, and anemia, especially the relationship between Qifen syndrome and high lactic acid dehydrogenase level. The common 11 TCM syndrome elements were associated with the increased CD3+ T cell rate, low hemoglobin level, high procalcitonin level, high lactic acid dehydrogenase level, and low albumin level. Conclusion: The changes in immune function indexes, procalcitonin, and liver function-related indexes in patients with EBV-associated diseases were consistent with the evolution law of TCM syndromes. This study provides a reference for judging the pathological stages of these kinds of diseases, predicting their prognosis, and guiding subsequent treatment strategies based on TCM syndrome type.

Keywords: EBV-associated diseases, traditional Chinese medicine syndrome, syndrome element, diagnostics

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Authors: Aran Abd Al Rahman

Abstract:

Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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