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Open Access March 08, 2025

Between Ptosis and Mandibular Contraction, there is a Hidden Marcus Gunn Syndrome

Abstract Marcus Gunn syndrome or unilateral trigemino-oculomotor syncinesis is a very rare autosomal dominant genetic disorder characterised by a combination of congenital ptosis and mandibulopalpebral syncinesis during certain mandibular movements. We report a series of two cases of children with Marcus Gunn syndrome. Case 1: A 5-year-old boy with no previous pathological findings presented with [...] Read more.
Marcus Gunn syndrome or unilateral trigemino-oculomotor syncinesis is a very rare autosomal dominant genetic disorder characterised by a combination of congenital ptosis and mandibulopalpebral syncinesis during certain mandibular movements. We report a series of two cases of children with Marcus Gunn syndrome. Case 1: A 5-year-old boy with no previous pathological findings presented with unilateral ptosis of the left upper eyelid at the age of 4 months. His visual acuity was 10/10 in right eye on the right and 5/10 in left eye. Second case: a 7-year-old girl, brought in by her parents for a ptosis of the left eye noted at birth. This is a 7-year-old girl brought in by her parents for ptosis of the left eye, diagnosed at birth. She had no particular pathological antecedents. Her visual acuity was 10/10 in right occlusion and 3/10 in left occlusion. Both children had undergone sectioning of the superior levator muscle with frontal suspension using prolene sutures, with good progression, followed by total optical correction and treatment of the amblyopia.
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Case Report
Open Access October 24, 2022

Probiotics and Intestinal Microbiome: A Review of Literature

Abstract Probiotics, prebiotics, and synbiotics modify various aspects of local and systemic immune function in multiple experimental models. However, their impact and mechanisms of action are not known across all products or noticed in every population studied, and impacts on in vitro, ex vivo, or other measures of immune function do not necessarily result in an impact on infection and illness in vivo [...] Read more.
Probiotics, prebiotics, and synbiotics modify various aspects of local and systemic immune function in multiple experimental models. However, their impact and mechanisms of action are not known across all products or noticed in every population studied, and impacts on in vitro, ex vivo, or other measures of immune function do not necessarily result in an impact on infection and illness in vivo. Studies have discussed that intestinal microbiota has an essential role in enhancing the immune system against viruses. The regulatory impact of the intestinal microbiota on viral infection is connected with local and systemic immune responses and plays a part in congenital and adaptive immune responses. The microbiota composition critically modulates the production of virus-specific CD4 and CD8 T cells and antibody responses following influenza virus infection. The intestinal microbiota has an important role in the stabilizing of immune homeostasis by augmenting the integrity of the barrier functions of the gut mucosa, which is a crucial aspect of systemic immunity. In conclusion, the intestinal microbiota can influence organismal immunity locally and systemically, proximally, and distally. Studying the possible mechanism by which the intestinal microbiota maintains host immunity can provide a clearer understanding of the occurrence and development of diseases.
Essay
Open Access September 20, 2022

Neurovirological Aspects of Congenital Cytomegalovirus and Its Connection to Autistic Spectrum Disorder

Abstract Autism Spectrum Disorder (ASD) is a neurodevelopmental disease that includes a wide range of functional impairments, such as social and communication deficiencies, as well as limited and selective interest and behavioral patterns that are repetitive. Children with ASD often show developmental delay, which is noticeable at an early age, and show a wide range of symptoms that interfere with daily [...] Read more.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disease that includes a wide range of functional impairments, such as social and communication deficiencies, as well as limited and selective interest and behavioral patterns that are repetitive. Children with ASD often show developmental delay, which is noticeable at an early age, and show a wide range of symptoms that interfere with daily functioning, so early diagnosis includes early interventions. A complex set of genetic and environmental factors is associated with the development of ASD, which makes ASD a complex disorder, so there is a clear distinction between neurodivergent and neurotypical individuals. Since ASD is caused by a combination of certain genetic mutations and the prenatal/postnatal environment, we focused on the etiology of ASD in viral infections, i.e., Cytomegalovirus (CMV) as a possible cause of ASD. CMV is a neurotropic herpesvirus, which can be transmitted from mother to child during pregnancy. Cytomegalovirus (CMV) infection, which is often asymptomatic and can remain latent throughout life, can pose a danger to immune insufficiency individuals during pregnancy. CMV is the most common pathogen that causes intrauterine infections, is the most common cause of nongenetic sensorineural hearing loss in children, and the main cause of neurodevelopmental delay, so research suggests an association between congenital CMV infection with ASD and maternal seropositivity for CMV in pregnancy. spectrum in children. In the research, we used various online databases as sources for our study. The result of our research and processing of the given information indicates that maternal CMV infection in pregnancy is related to the development of autism spectrum disorders in children.
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Review Article
Open Access February 04, 2022

May-Thurner Syndrome in Pregnancy: A Case Report

Abstract May-Thurner Syndrome, left iliac vein compression by the right iliac artery, is a congenital permissive lesion that requires an additional insult prior to the onset of symptoms. We present a case of a 31-year-old gravida 1 para 0 at 28.6 weeks who presented to the emergency room with a 2-month history of progressive lower left leg swelling since 21.2 weeks’ gestation. The patient endorsed [...] Read more.
May-Thurner Syndrome, left iliac vein compression by the right iliac artery, is a congenital permissive lesion that requires an additional insult prior to the onset of symptoms. We present a case of a 31-year-old gravida 1 para 0 at 28.6 weeks who presented to the emergency room with a 2-month history of progressive lower left leg swelling since 21.2 weeks’ gestation. The patient endorsed incidence of domestic violence at 17 weeks’ gestation. The patient had a twin sister who was also pregnant and had not experienced these symptoms. Physical exam revealed 3+ pitting edema in the left lower extremity from ankle to groin. There was left calf tenderness with negative Homan’s sign bilaterally. Overall finding on magnetic resonance angiography revealed severe compression of the upper left common iliac vein and lower inferior vena cava by gravid uterus. Conservative management and anticoagulation is instrumental in preventing veno-thromboembolic events in pregnancies complicated by MTS.
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Case Report
Open Access November 05, 2021

Cerebral Palsy and Heterotaxy Syndrome: A Case Report

Abstract Background: Cerebral palsy is not only a serious neurodevelopmental disease causing significant morbidity in children, but also a traumatic experience leading to psychosocial trauma to the parents/caregivers of the affected children. It is usually caused by prenatal or early post-natal insults to the newborn brain which may be associated with some congenital syndromes like congenital heart [...] Read more.
Background: Cerebral palsy is not only a serious neurodevelopmental disease causing significant morbidity in children, but also a traumatic experience leading to psychosocial trauma to the parents/caregivers of the affected children. It is usually caused by prenatal or early post-natal insults to the newborn brain which may be associated with some congenital syndromes like congenital heart disease with transposition of the viscera but rarely a heterotaxy syndrome, a condition characterized with congenitally abnormal arrangement of the thoracic and abdominal viscera. Method: We present a case report of a 12-month-old boy with neurodevelopmental delay, recurrent episodes of non-mucoid and non-bloody diarhoea, occasional constipation, bilious vomiting, abdominal distension and fever with associated cough and difficulty in breathing. Results: We discuss an unusual presentation of cerebral palsy and heterotaxy syndrome diagnosed clinically with supporting evidence from both laboratory and radiological tests. Cerebral palsy was diagnosed from the history of birth asphyxia, delayed developmental milestone, limb spasticity and low values for all sub-scores of Bayley-III scale. Heterotaxy syndrome was diagnosed from the radiologic evidence of dextrocardia, left-sided stomach, centrally located liver and malrotation of gut with volvulus. We also provide a brief literature review of the incidence and prevalence, causes and risk factors, classification, clinical presentation and associated co-morbidities of heterotaxy syndrome. Conclusion: Diagnosis of heterotaxy syndrome in a child with background cerebral palsy is a great challenge to both physicians and radiologists. This is more so in developing countries due to poor availability of good diagnostic apparatus, therefore, a high index of suspicion is needed. A clear understanding of the clinical features, comprehensive history taking and thorough physical examination are important in making prompt diagnosis. Timely and appropriate imaging is necessary to prevent delays in diagnosis and treatment which lead to poor outcomes.
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