Search results for: clinical syndrome

Authors: Sweta Das

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This case report highlights the atypical clinical manifestation of ipsilateral head, neck, shoulder, and eye pain with erythema and edema of right eyelid and conjunctiva, along with typical presentation of right sided Horner’s syndrome in a 37-year-old female, who was correctly diagnosed with Wallenberg syndrome due to collaborative effort from optometry, primary care, emergency, and neurology specialties in medicine. Horner’s syndrome is present in 75% of patients with Wallenberg syndrome. Given that patients with Wallenberg syndrome often first present to the Emergency Department with a vast variety of non-specific symptoms, and a normal MRI, a delayed diagnosis is common. Therefore, a collaborative effort between emergency department, optometry, primary care, and neurology is essential in correctly diagnosing Wallenberg’s syndrome in a timely manner.

Keywords: horner's syndrome, stroke, wallenberg syndrome, lateropulsion of eyes

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Authors: Kamal Chafiq, Youssef Hadzine, Adel Elmekkaoui, Othmane Benlenda, Houssam Rajad, Soukaina Wakrim, Hicham Nassik

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Guillain-Barré syndrome/Miller Fishe syndrome (GBS/MFS) overlap syndrome is an extremely rare variant of Guillain-Barré syndrome (GBS) in which Miller Fisher syndrome (MFS) coexists with other characteristics of GBS, such as limb weakness, paresthesia, and facial paralysis. We report the clinical case of a 12-year-old patient, with no pathological history, who acutely presents with ophthalmoplegia, areflexia, facial diplegia, and swallowing and phonation disorders, followed by progressive, descending, and symmetrical paresis affecting first the upper limbs and then the lower limbs. An albuminocytological dissociation was found in the cerebrospinal fluid study. Magnetic resonance imaging of the spinal cord showed enhancement and thickening of the cauda equina roots. The patient was treated with immunoglobulins with a favorable clinical outcome.

Keywords: Guillain-Barré syndrome, Miller Fisher syndrome, overlap syndrome, anti-GQ1b antibodies

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Authors: Maha Salah, Hanaa Hashem, Mahmoud M. Alsagheir, Mohammed Salah

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Acute respiratory distress syndrome (ARDS) represents a complex clinical syndrome and carries a high risk for mortality. The severity of the clinical course, the uncertainty of the outcome, and the reliance on the full spectrum of critical care resources for treatment mean that the entire health care team is challenged. Researchers and clinicians have investigated the nature of the pathological process and explored treatment options with the goal of improving outcome. Through this application of research to practice, we know that some previous strategies have been ineffective, and innovations in mechanical ventilation, sedation, nutrition, and pharmacological intervention remain important research initiatives. Developed Clinical pathway is multidisciplinary plans of best clinical practice for this specified groups of patients that aid in the coordination and delivery of high quality care. They are a documented sequence of clinical interventions that help a patient to move, progressively through a clinical experience to a desired outcome. Although there is a lot of heterogeneity in patients with ARDS, this suggested developed clinical pathway with alternatives was built depended on a lot of researches and evidence based medicine and nursing practices which may be helping these patients to improve outcomes, quality of life and decrease mortality.

Keywords: acute respiratory distress syndrome (ARDS), clinical pathway, clinical syndrome

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Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

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Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Surekha Tony, Roshan Mevada

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Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema, and microthrombocytopenia. In its classical form, significant combined immune deficiency, autoimmune complications, and risk of hematological malignancy necessitate early correction, preferably before 2 years of age, with hematopoietic stem cell transplant (HSCT) or gene therapy. Clinical features and severity are varied, making the diagnosis difficult in milder cases. We report an Omani boy diagnosed in early infancy with WAS based on clinical presentation and confirmed by genetic diagnosis with cure by HSCT from an HLA-identical sibling donor.

Keywords: genetic diagnosis, hematopoietic stem cell transplant, infant, Wiskott-Aldrich syndrome

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Authors: Olha Yarova

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This study is a collaborative project between the American University of Central Asia and parent association of children with Down syndrome ‘Sunterra’ that took place in Bishkek, Kyrgyzstan. The purpose of the study was to explore whether principles and techniques of applied behavior analysis (ABA) could be used to teach children with Down syndrome socially significant behaviors. ABA is considered to be one of the most effective treatment for children with autism, but little research is done on the particularity of using ABA to children with Down syndrome. The data for the study was received during clinical observations; work with children with Down syndrome and interviews with their mothers. The results show that many ABA principles make the work with children with Down syndrome more effective. Although such children very rarely demonstrate aggressive behavior, they show a lot of escape-driven and attention seeking behaviors that are reinforced by their parents and educators. Thus functional assessment can be done to assess the function of problem behavior and to determine appropriate treatment. Prompting and prompting fading should be used to develop receptive and expressive language skills, and enhance motor development. Even though many children with Down syndrome work for praise, it is still relevant to use tangible reinforcement and to know how to remove them. Based on the results of the study, the training for parents of children with Down syndrome will be developed in Kyrgyzstan, country, where children with Down syndrome are not accepted to regular kindergartens and where doctors in maternity hospitals tell parents that their child will never talk, walk and recognize them

Keywords: down syndrome, applied behavior analysis, functional assessment, problem behavior, reinforcement

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Authors: Neda Jamalimoghadam, Naval Heydari, Maliheh Abootalebi, Maryam Kasraeian, M. Emamghoreishi , Akbarzadeh Marzieh

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Background: The aim was to investigate the effect of aromatherapy using Citrus aurantium blossom essential oil on premenstrual syndrome in university students. Methods: In this double-blind clinical trial was controlled on 62 students from March 2016 to February 2017. The intervention with 0.5% of C. Aurantium blossom essential oil and control was inhalation of odorless sweet almond oil in the luteal phase of the menstrual cycle. The screening questionnaire (PSST) for PMSwas filled out before and also one and two months after the intervention. Results: Mean score of overall symptoms of PMS between the Bitter orange and control groups In the first (p < 0.003) and second months (p < 0.001) of the intervention was significant. Besides, decreased the mean score of psychological symptoms in the intervention group (p < 0.001), but on physical symptoms and social function were not significant (p > 0.05). Conclusion: The aromatherapy with Citrus aurantium blossom improved the symptoms of premenstrual syndrome.

Keywords: aromatherapy, Citrus Aurantium, premenstrual syndrome, oil, students

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Authors: Sara Canas Pedrosa, Esther Moraleda SepuLveda

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Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS) are considered rare genetic disorders that share the same chromosomal region: 15q11.2-q13. This is why both share some common characteristics, such as, delay in language development. However, there is still little research that specifically focuses on the linguistic profile in these populations. Therefore, the objective of this study was to know the characteristics of oral and written language that Angelman Syndrome and Prader-Willi Syndrome present from the point of view of parents. The sample consisted of 36 families (with children between 6 and 17 years old), of which 23 had children with AS and 13 had children with PWS. All of them answered the Language Assessment Scale of the standardized test CELF-4, Spanish Clinical Evaluation of Language Fundamentals-4 (Wiig, Secord & Semel, 2006). The scale is made up of 40 items that assesses the perception of parents in areas such as: difficulty of listening, speaking, reading and writing. The results indicate that the majority of parents manifest problems in almost all the sub-areas related to oral language and written language, taking into account that many do not achieve a literacy level, with similar results in comparison with both syndromes. These data support the importance of working on oral language delay and its relationship with the subsequent learning of literacy throughout its development.

Keywords: Angelman Syndrome , development, language, Prader-Willi Syndrome

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Authors: Sandip Tambare, Revati Ghadge

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Alcohol withdrawal syndrome continue to be concerning health issue worldwide in alcoholics. Many current option for treating alcohol withdrawal signs are habit forming causing dependency of sedatives. The divine science of Ayurveda recommends Nasya for improvement of alcohol withdrawal signs. As per the latest reports 1/3 of the Indian population is using alcohol in an unhealthy manner, the complication being wide and varied among which, the Alcohol Withdrawal Syndrome is the dominant one. The presentation varies from mild sleep loss or anxiety to delirium. Ayurveda has given utmost in the context of Madatyaya(Alcoholism). Various protocols based on the identification of the status of tridoshas are explained which includes sodhana, samana and satwavachaya chikitsa. Various medications are being used, with appreciated effects in the clinical practice. As per reports, the panchakarma procedure nasya seems highly effective, in managing of the alcohol withdrawal syndrome. Nasya with Ksheerabala Taila is given for 7 days in the condition of Alcohol Withdrawal syndrome and it was the non Randomized trial with 30 subjects satisfying the DSM V criteria for alcohol withdrawl and the assessment was done using the Clinical Institute Withdrawal Assessment for Alcohol Scale revised (CIWA-Ar). Conclusion: Among the symptoms which were studied after the interventions, it was found that there was high significant response in almost all the symptoms in the given subjects. The eternal science of Ayurveda is able to answer the existing problem of alcohol and its abuse in the society.

Keywords: nasya, alcohol withdrawal, madatyaya, ksheerabala taila

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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: A. Bruce Janati, Muhammad Umair Khan, Naif Alghassab, Ibrahim Alzeir, Assem Mahmoud, M. Sammour

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Rationale: Lennox-Gastaut syndrome(LGS) is an electro-clinical syndrome composed of the triad of mental retardation, multiple seizure types, and the characteristic generalized slow spike-wave complexes in the EEG. In this article, we report on two patients with LGS whose brain MRI showed dysgenesis of corpus callosum(CC). We review the literature and stress the role of CC in the genesis of secondary bilateral synchrony(SBS). Method: This was a clinical study conducted at King Khalid Hospital. Results: The EEG was consistent with LGS in patient 1 and unilateral slow spike-wave complexes in patient 2. The MRI showed hypoplasia of the splenium of CC in patient 1, and global hypoplasia of CC combined with Joubert syndrome in patient 2. Conclusion: Based on the data, we proffer the following hypotheses: 1-Hypoplasia of CC interferes with functional integrity of this structure. 2-The genu of CC plays a pivotal role in the genesis of secondary bilateral synchrony. 3-Electrodecremental seizures in LGS emanate from pacemakers generated in the brain stem, in particular the mesencephalon projecting abnormal signals to the cortex via thalamic nuclei. 4-Unilateral slow spike-wave complexes in the context of mental retardation and multiple seizure types may represent a variant of LGS, justifying neuroimaging studies.

Keywords: EEG, Lennox-Gastaut syndrome, corpus callosum , MRI

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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: Jennifer M. Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael S. C. Thomas

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Genetic syndrome groups that feature high rates of autism comorbidity, like Down syndrome (DS) and fragile X syndrome (FXS), have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in important ways from the idiopathic or ‘non-syndromic’ autism phenotype. To uncover the true nature of these comorbidities, it is necessary to extend definitions of autism to include the cognitive characteristics of the disorder and to then apply this broadened conceptualisation to the study of syndromic autism profiles. The current study employs a variety of well-established eye-tracking paradigms to assess visual attentional performance in children with DS and FXS who reach thresholds for autism on the Social Communication Questionnaire. It investigates whether autism profiles in these children are accompanied by visual orienting difficulties (‘sticky attention’), decreased social attention, and enhanced visual search performance, all of which are characteristic of the idiopathic autism phenotype. Data is collected from children with DS and FXS aged between 6 and 10 years, in addition to two control groups matched on age and intellectual ability (i.e., children with idiopathic autism and neurotypical controls). Cross-sectional developmental trajectory analyses are conducted to enable visuo-attentional profile comparisons. Significant differences in the visuo-attentional processes underpinning autism presentations in children with FXS and DS are hypothesised, supporting notions of syndrome specificity. The study provides insight into the complex heterogeneity associated with syndromic autism presentations and autism per se, with clinical implications for the utility of autism intervention programmes in DS and FXS populations.

Keywords: autism, down syndrome, fragile X syndrome, eye tracking

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Authors: Ben Clapperton, Daniel Stahl, Kimberley Goldsmith, Trudie Chalder

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Chronic fatigue syndrome (CFS) is a condition characterised by chronic disabling fatigue and other symptoms that currently can't be explained by any underlying medical condition. Although clinical trials support the effectiveness of cognitive behaviour therapy (CBT), the success rate for individual patients is modest. Patients vary in their response and little is known which factors predict or moderate treatment outcomes. The aim of the project is to develop a prediction model from baseline characteristics of patients, such as demographics, clinical and psychological variables, which may predict likely treatment outcome and provide guidance for clinical decision making and help clinicians to recommend the best treatment. The project is aimed at identifying subgroups of patients with similar baseline characteristics that are predictive of treatment effects using modern cluster analyses and data mining machine learning algorithms. The characteristics of these groups will then be used to inform the types of individuals who benefit from a specific treatment. In addition, results will provide a better understanding of for whom the treatment works. The suitability of different clustering methods to identify subgroups and their response to different treatments of CFS patients is compared.

Keywords: chronic fatigue syndrome, latent class analysis, prediction modelling, self-organizing maps

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Authors: Jyoti Agrawal

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Introduction: Renal diseases in children and young adult can be difficult to diagnose early as it may present only with few symptoms, tends to have different course than adult and respond variously to different treatment. The pattern of renal disease in children is different from developing countries as compared to developed countries. Methods: This study was a hospital based prospective observational study carried from March, 2014 to February 2015 at BP Koirala institute of health sciences. Patients with renal disease, both inpatient and outpatient from birth to 14 years of age were enrolled in the study. The diagnosis of renal disease was be made on clinical and laboratory criteria. Results: Total of 120 patients were enrolled in our study which contributed to 3.74% % of total admission. The commonest feature of presentation was edema (75%), followed by fever (65%), hypertension (60%), decreased urine output (45%) and hematuria (25%). Most common diagnosis was acute glomerulonephritis (40%) followed by Nephrotic syndrome (25%) and urinary tract infection (25%). Renal biopsy was done for 10% of cases and most of them were steroid dependent nephrotic syndrome. 5% of our cases expired because of multiorgan dysfunction syndrome, sepsis and acute kidney injury. Conclusion: Renal disease contributes to a large part of hospital pediatric admission as well as mortality and morbidity to the children.

Keywords: glomerulonephritis, nephrotic syndrome, renal disease, urinary tract infection

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Authors: Birendra Kumar Jha, Mingma L. Sherpa, Binod Kumar Dahal

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Background: The metabolic syndrome is emerging as a major public health concern in the world. Urbanization, surplus energy uptake, compounded by decreased physical activities, and increasing obesity are the major factors contributing to the epidemic of metabolic syndrome worldwide. However, prevalence of metabolic syndrome and its risk factors are little studied in Terai region of Nepal. The objectives of this research were to estimate the prevalence and to identify the risk factors of metabolic syndrome among adults in Terai region of Nepal. Method: We used a community based cross sectional study design. A total of 225 adults (age: 18 to 80 years) were selected from three district of Terai region of Nepal using cluster sampling by camp approach. IDF criteria (central obesity with any two of following four factors: triglycerides ≥ 150 mg/dl or specific treatment for lipid abnormality, reduced HDL, raised blood pressure and raised fasting plasma glucose or previously diagnosed type 2 diabetes) were used to assess metabolic syndrome. Interview, physical and clinical examination, measurement of fasting blood glucose and lipid profile were conducted for all participants. Chi-square test and multivariable logistic regression were employed to explore the risk factors of metabolic syndrome. Result: The overall prevalence of metabolic syndrome was 70.7%. Hypertension, increased fasting blood sugar, increased triglycerides and decreased HDL were observed in 50.7%, 32.4%, 41.8% and 79.1% of the subjects respectively. Socio-economic and behavioral risk factors significantly associated with metabolic syndrome were gender male (OR=2.56, 955 CI: 1.42-4.63; p=0.002), in service or retired from service (OR=3.72, 95% CI: 1.72-8.03; p=0.001) and smoking (OR= 4.10, 95% CI: 1.19-14.07; p=0.016). Conclusion: Higher prevalence of Metabolic syndrome along with presence of behavioral risk factors in Terai region of Nepal likely suggest lack of awareness and health promotion activities for metabolic syndrome and indicate the need to promote public health programs in this region to maintain quality of life.

Keywords: metabolic syndrome, Nepal, prevalence, risk factors, Terai

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Authors: Emna Abid, Linda Chebbi, Yosra Mabrouk, Amel Labidi, Lamia Mansour

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Werner syndrome (WS) is a rare genetic disorder inherited in an autosomal recessive pattern characterized by accelerated aging. While extensive research has been conducted on its systemic manifestations, the specific dental implications of WS remain poorly understood. The medical history and the oral health status of two patients diagnosed with WS were detailed. Our findings revealed a high prevalence of dental problems in both patients, including periodontitis, xerostomia, and temporomandibular joint disorders. This article aims to investigate the dental challenges faced by individuals with WS as well as the prosthetic options envisaged through two clinical cases contributing to a deeper understanding of the dental implications of WS and to choose the appropriate prosthetic solution in this population. Future research should focus on larger scale studies and clinical trials to validate these proposed strategies.

Keywords: adult progeria, clinical symptoms, oral manifestations, dental care, prosthetic management

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Authors: Rong Wang

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Objective: The aim is to summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA). Design: A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology. Results: There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age. Conclusions: We propose that the presence or absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.

Keywords: hearing loss, Pendred syndrome/nonsyndromic vestibular enlargement of aqueduct, radiologic, SLC26A4

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Authors: Maha Salah Abdullah Ismail, Mahmoud M. Alsagheir, Mohammed Salah Abd Allah

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Acute respiratory distress syndrome (ARDS) is characterized by permeability pulmonary edema and refractory hypoxemia. Lung-protective ventilation is still the key of better outcome in ARDS. Prone position reduces the trans-pulmonary pressure gradient, recruiting collapsed regions of the lung without increasing airway pressure or hyperinflation. Prone ventilation showed improved oxygenation and improved outcomes in severe hypoxemic patients with ARDS. This study evaluates the effect of prone positioning on mechanically ventilated patients with ARDS. A quasi-experimental design was carried out at Critical Care Units, on 60 patients. Two tools were utilized to collect data; Socio demographic, medical and clinical outcomes data sheet. Results of the present study indicated that prone position improves oxygenation in patients with severe respiratory distress syndrome. The study recommended that use prone position in patients with severe ARDS, as early as possible and for long sessions. Also, replication of this study on larger probability sample at the different geographical location is highly recommended.

Keywords: acute respiratory distress syndrome, critical care, mechanical ventilation, prone position

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Authors: Huma Atta, Ishrat Rehman, Muhammad Umair

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Objective: To find out the effectiveness of Dr. Stein behavioural modification strategies among Down syndrome children’s behavioural problems. Material & Methods: We took a group of individuals (aged 8-16) having Down syndrome from national special education complex, Peshawar. They were assessed through the behavioural problem index to give us an idea on their behaviour problems, those with a behavioural problem were kept in therapy for further sessions to help them improve. Results: A treatment plan was made according to the extracted behavioural problems of Down syndrome children. Dr. Stein recommended behavioural modification treatment strategies were used for behavioural modification of Down syndrome children (Routine, reward, choice, redirection and consistency). Pre-intervention (M=69.11, SD=6.27) and post-intervention (M=61.33, SD=6.51) conditions; t (8) =2.70, p=0.027. Conclusion: After the successful completion of 9 sessions with Down syndrome children, their behavioural problems were reassessed. Results indicated that Dr. Stein behavioural modification strategy is an effective treatment plan for the modification of behavioural problems among Down syndrome children.

Keywords: behavior, down syndrome, treatment, strategies

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Authors: Ramuel Spirituel Mattathiah A. San Juan, Neil Ambasing

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Background: In lateral medullary strokes, hemiparesis doesn't typically manifest due to the distinct vascular supply to the corticospinal tract located within the medulla's tegmentum. Hemiparesis resulting from a medullary infarct would likely be attributable to a medial medullary stroke characterized by contralateral hemiparesis since the corticospinal tract fibers at this level have yet to cross over. This paper reports a unique case of a lateral medullary stroke variant that presented with ipsilateral hemiparesis. Objective: There have only been 23 other cases of reported Opalski syndrome, making this only the 24th and 25th case reported worldwide. Case Presentation: A 53-year-old male was admitted with slurring of speech with gait instability, numbness on the right face, Horner’s syndrome, and 4/5 motor strength on the right extremities. Hyperreflexia was noted on the right, together with a Babinski’s sign. Cranial magnetic resonance imaging (MRI) showed an infarct on the right dorsolateral medulla. A 48-year-old male was admitted complaining of dizziness, ataxic gait, veering to the left during ambulation, left facial numbness, left hemiplegia, crossed sensory disturbance, and right limb ataxia. MRI revealed an acute left lateral medullary infarction. Conclusion: A rare type of lateral medullary infarction, the Opalski Syndrome, is a weakness ipsilateral to the lesion of the infarct. The lesion involves the ipsilateral corticospinal tract below the pyramidal decussation. The considerable diversity in the posterior brain circulation serves as a contributing factor to the clinical observation of incomplete textbook syndromes, underscoring the significance of the neurological clinical approach and a solid foundation in neuroanatomy.

Keywords: Opalski syndrome, rare stroke, stroke, Wallenberg's syndrome

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Authors: Ali Al Orf, Khawaja Bilal Waheed

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Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: Vallejo Michael, Acuña Edgar, Roa Juan David, Peñuela Rosa, Parra Alejandra, Casallas Daniela, Rodriguez Sheyla

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Congenital Zika Virus Syndrome is an entity composed by a variety of birth defects presented in newborns that have been exposed to the Zika Virus during pregnancy. The syndrome characteristic features are severe microcephaly, cerebral tissue abnormalities, ophthalmological abnormalities such as uveitis and chorioretinitis, arthrogryposis, clubfoot deformity and muscular tone abnormalities. The confirmatory test is the Reverse transcription polymerase chain reaction (RT-PCR) associated to the physical findings. Here we present the case of a newborn with microcephaly whose mother presented a confirmed Zika Virus infection during the third trimester of pregnancy, despite of the evident findings and the history of Zika infection the RT-PCR in amniotic and cerebrospinal fluid of the newborn was negative. RT-PCR has demonstrated a low sensibility in samples with low viral loads, reason why, we propose a clinical diagnosis in patients with clinical history of Zika Virus infection during pregnancy accompanied by evident clinical manifestations of the child.

Keywords: congenital, Zika virus, microcephaly, reverse transcriptase polymerase chain reaction

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Authors: Nehal F. Hassib, Rasha M. El Hossini, Inas M. Sayed, Maha R. Abouzeid, Nermeen A. Bayoumi, Aida M. Mosaad, Lamia K. Gadallah, Moataz Bellah A. T. Abdelbari, Heba A. El-Sayed, Hasnaa Elbendary, Ghada Abdel-Salam, Maha Zaki, Mostafa I. Mostafa, Mohamed S. Abdel-Hamid

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Enamel, the outermost layer of the tooth crown, is the hardest dental tissue and serves as a protective barrier. Amelogenesis, the process of enamel formation, is regulated by multiple genes to ensure normal, defect-free enamel. Defective enamel manifests as hypoplasia or as amelogenesis imperfecta (AI), which may occur in isolation or as part of a syndrome. This study presents 29 patients from 18 unrelated families (16 females and 13 males) who exhibited distinctive enamel abnormalities. We conducted thorough clinical examinations and requested laboratory and radiological investigations. Blood samples were collected for molecular analysis, utilizing a targeted panel for known AI variants and whole exome sequencing for unknown variants. Eleven variants linked to enamel anomalies were identified: four genes associated with isolated AI (WDR72, ACP4, SLC24A4, and FAM83H) and seven associated with syndromic forms, including enamel renal syndrome (FAM20A), tricho-dento-osseous syndrome (DLX3), Jalili syndrome (CNNM4), and others linked to neurological and mitochondrial disorders, skeletal dysplasia, and peroxisome disorders. Abnormal oral and dental phenotypes in individuals may indicate serious inherited disorders. Enamel defects have significant implications for aesthetics, function, and patients' psychological well-being. Dental examination, alongside clinical and molecular investigations, is crucial for the accurate diagnosis and prediction of inherited conditions.

Keywords: amelogenesis imperfecta, enamel defect, Enamel renal syndrome, DLX3, Jalili syndrome, WDR72, FAM83H, whole exome sequencing

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Authors: Anna D. Kotrova, Alexandr N. Shishkin, Elena I. Ermolenko

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The aim. To study the quantitative and qualitative colon bacteria ratio from patients with metabolic syndrome. Materials and methods. Fecal samples from patients of 2 groups were identified and analyzed: the first group was formed by patients with metabolic syndrome, the second one - by healthy individuals. The metagenomics method was used with the analysis of 16S rRNA gene sequences. The libraries of the variable sites (V3 and V4) gene 16S RNA were analyzed using the MiSeq device (Illumina). To prepare the libraries was used the standard recommended by Illumina, a method based on two rounds of PCR. Results. At the phylum level in the microbiota of patients with metabolic syndrome compared to healthy individuals, the proportion of Tenericutes was reduced, the proportion of Actinobacteria was increased. At the genus level, in the group with metabolic syndrome, relative to the second group was increased the proportion of Lachnospira. Conclusion. Changes in the colon bacteria ratio in the gut microbiota of patients with metabolic syndrome were found both at the type and the genus level. In the metabolic syndrome group, there is a decrease in the proportion of bacteria that do not have a cell wall. To confirm the revealed microbiota features in patients with metabolic syndrome, further study with a larger number of samples is required.

Keywords: gut microbiota, metabolic syndrome, metagenomics, tenericutes

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Authors: Armaghan Moravej Aleali, Hajieh Shahbazian, Seyed Mahmoud Latifi, Leila Yazdanpanah

Abstract:

Objective: Metabolic syndrome or insulin resistance syndrome or syndrome X is a collection of abdominal obesity, hypertension, glucose intolerance and lipid abnormalities (elevated triglycerides, elevated LDL, and decrease the amount of HDL). That increases the incidence of diabetes and risk of cardiovascular disease. The aim of this study is to investigate the prevalence of metabolic syndrome in people over 20 years of Ahvaz according to IDF, ATPIII, Harmonized I and Harmonized II. Material & Methods: A cross-sectional study with a random cluster sampling in six health centers in Ahvaz was done. After obtaining informed consent, questionnaire for each person filled up including demographic data and examinations, including blood pressure in sitting position, weight, height, waist circumference, and waist circumference measurement. Results: From all participating 912 people, (434 (2/47%) male and 478 (2/52%) female) were evaluated. Mean age was 42/27± 14years (44/2±14/26 for male and 40/5±13/5 for female). Prevalence of metabolic syndrome was 22/8%, 28/4%, 30/9% and 16/9% according to ATPIII, IDF, Harmonized I and Harmonized II criteria respectively and increased with age in both sexes. IDF and Harmonized I had most kappa coordination (0/94). Conclusion: The results show a high prevalence of metabolic syndrome in Ahvaz. So, identification of the risk factors should be attempted to prevent metabolic syndrome.

Keywords: metabolic syndrome, IDF, ATP III, prevalence

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Authors: Amany Ragab, Nashwa Khairat Abousamra, Omayma Saleh, Asmaa Higazy

Abstract:

Insulin resistance syndrome has been shown to be associated with many coagulation and fibrinolytic proteins and these associations suggest that some coagulation and fibrinolytic proteins have a role in atherothrombotic disorders. This study was conducted to determine the levels of some of the haemostatic parameters in subjects having metabolic syndrome and to correlate these values with the anthropometric and metabolic variables associated with this syndrome. The study included 46 obese non diabetic subjects of whom 28 subjects(group1) fulfilled the ATP III criteria of the metabolic syndrome and 18 subjects (group2) did not have metabolic syndrome as well as 14 lean subjects (group 3) of matched age and sex as a control group. Clinical and laboratory evaluation of the study groups stressed on anthropometric measurements (weight, height, body mass index, waist circumference, and sagittal abdominal diameter), blood pressure, and laboratory measurements of fasting plasma glucose, fasting insulin, serum lipids, tissue plasminogen activator (t-PA), antithrombin III activity (ATIII), protein C and von Willebrand factor (vWf) antigen. There was significant increase in the concentrations of t-PA and vWf antigens in subjects having metabolic syndrome (group 1) in comparison to the other groups while there were non-significant changes in the levels of protein C antigen and AT III activity. Both t-PA and vWf showed significant correlation with HOMA-IR as a measure of insulin sensitivity. The t-PA showed also significant correlation with most of the variables of metabolic syndrome including waist circumference, BMI, systolic blood pressure, fasting plasma glucose, fasting insulin, and HDL cholesterol. On the other hand, vWf showed significant correlations with fasting plasma glucose, fasting insulin and sagital abdominal diameter, with non-significant correlations with the other variables. Haemostatic and fibrinolytic parameters should be included in the features and characterization of the insulin resistance syndrome. t-PA and vWf antigens concentrations were increased in subjects with metabolic syndrome and correlated with the HOMA-IR measure of insulin sensitivity. Taking into consideration that both t-PA and vWf are mainly released from vascular endothelium, these findings could be an indicator of endothelial dysfunction in that group of subjects.

Keywords: insulin resistance, obesity, metabolic syndrome, coagulation

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Authors: Fu-Chien Hung, Chi‐Wen Liang

Abstract:

Background: People who suffer from chronic fatigue syndrome (CFS) frequently complain about continuous tiredness, weakness or lack of strength, but without apparent organic etiology. The prevalence rate of the CFS is nearly from 3% to 20%, yet more than 80% go undiagnosed or misdiagnosed as depression. The biopsychosocial model has suggested the associations among the CFS, depressive syndrome, and stress. This study aimed to investigate the difference between individuals with the CFS and with the depressive syndrome on psychophysiological responses under stress. Method: There were 23 participants in the CFS group, 14 participants in the depression group, and 23 participants in the healthy control group. All of the participants first completed the measures of demographic data, CFS-related symptoms, daily life functioning, and depressive symptoms. The participants were then asked to perform a stressful cognitive task. The participants’ psychophysiological responses including the HR, BVP and SC were measured during the task. These indexes were used to assess the reactivity and recovery rates of the automatic nervous system. Results: The stress reactivity of the CFS and depression groups was not different from that of the healthy control group. However, the stress recovery rate of the CFS group was worse than that of the healthy control group. Conclusion: The results from this study suggest that the CFS is a syndrome which can be independent from the depressive syndrome, although the depressive syndrome may include fatigue syndrome.

Keywords: chronic fatigue syndrome, depression, stress response, misdiagnosis

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Authors: Kazem Shakouri, Alireza Pishgahi, Homayoun Sadeghi-bBazargani, Shahla Dareshiri

Abstract:

Introduction: Carpal Tunnel Syndrome has numerous nonsurgical treatments including splint, physical therapy and corticosteroid injections. Aim: The purpose of this study was to evaluate the effectiveness of an ultrasound guided treatment procedure, for individuals with severe carpal tunnel syndrome. Materials and Method: 20 patients with an electrodiagnostic evidence of severe carpal tunnel syndrome were treated by an office-based ultrasound guided procedure (combination of percutaneous needle release of carpal tunnel and corticosteroid injection). Electrodiagnostic (nerve conduction study), clinical (Boston Carpal Tunnel Questionnaire, grip strength) and ultrasonic (median nerve and carpal tunnel cross-sectional area) measurements were recorded at baseline and one month after intervention. Results: Our preliminary data analysis showed that in one month follow up, patients had a significantly smaller cross-sectional area of the median nerve compared to pretreatment values (mean difference 0.06; 95%CI: 0.02-0.1; p < 0.001). In addition, patients had significantly less functional impairment (mean difference 35; 95% CI:28.7-43.4 ; p < 0.001), and an improved hand grip strength in one month follow up (mean difference 5.4; 95%CI: 3.1-7.8; p < 0.001;). There were no significant complications. Conclusion: Patients with severe carpal tunnel syndrome, who are candidates for surgical intervention, can consider office-based ultrasound guided needle release of carpal tunnel as an alternative safe treatment.

Keywords: Carpal Tunnel Syndrome, needle release, pain, ultrasound

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