Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs the conversion of guanidinoacetic acid (GAA) to creatine. The resulting accumulation of the toxic metabolite GAA and the lack of creatine lead to various symptoms, including global developmental delays, behavioral issues, and epilepsy.
View Article and Find Full Text PDFSchwannomas are rare nerve sheath tumors that can occur throughout the body, and are symptomatic based on location, size, and impingement on adjacent structures. These tumors are often benign lesions and occur sporadically or from genetic conditions such as neurofibromatosis. Schwannomas may arise from peripheral nerves, gastrointestinal nerves, spinal nerve roots and cranial nerves.
View Article and Find Full Text PDFBackground: Tumor-specific molecular imaging in head and neck squamous cell carcinoma (HNSCC) is not well established. Somatostatin receptors (SSTRs) are found in solid tumors, including HNSCC. Ga-DOTATATE, a commercially available radionuclide that binds SSTRs, may have utility in imaging HNSCC.
View Article and Find Full Text PDFLingual thyroid is by far the most common presentation of ectopic thyroid. Though mostly asymptomatic it is associated with congenital hypothyroidism and importantly, absence of orthotopic thyroid making it the only functional thyroid tissue a patient has in many cases. It appears indistinguishable to orthotopic thyroid tissue on imaging, with avid homogeneous enhancement on contrast computed tomography.
View Article and Find Full Text PDFBackground: Central nervous system involvement is uncommon in patients with sarcoidosis. It remains a diagnostic challenge for clinicians, as there is a broad differential diagnosis that matches the presenting neurological signs. Often, the imaging findings also overlap with other disease entities.
View Article and Find Full Text PDFBackground: Over the past two years, SARS-CoV-2 has frequently been documented with various post and para-infectious complications, including cerebrovascular, neuromuscular, and some demyelinating conditions such as acute disseminated encephalomyelitis (ADEM). We report two rare neurological manifestations post-COVID-19 infection; multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Further, we reviewed other CNS inflammatory demyelinating diseases (IDDs) associated with SARS-CoV-2, including optic neuritis (ON) and neuromyelitis optica spectrum disorders (NMOSD).
View Article and Find Full Text PDFAutoimmune Encephalitis (AIE) is a rare and complex group of disorders wherein the body's immune system attacks and causes inflammatory changes in the central nervous system (CNS). It presents with altered mental status and a diverse range of typical and atypical symptoms and neuroimaging and cerebrospinal fluid (CSF) findings. The objective of this article is to highlight the importance of early identification of neurological symptoms, prompt diagnosis with neuroimaging and CSF findings, and timely management for early and complete resolution of the disease and long-term benefits.
View Article and Find Full Text PDFremains a public health concern in many areas of the Philippines. Periodic Mass Drug Administration (MDA) to at-risk populations is the main strategy for morbidity control of schistosomiasis. Attaining MDA coverage targets is important for the reduction of morbidity and prevention of complications due to the disease, and towards achieving Universal Health Care.
View Article and Find Full Text PDFBackground: Oxytocin administration regimens are arbitrary and highly subjective. Hence, it is essential to reinvestigate the appropriate dose for effective uterine contraction with minimal bleeding and adverse effects.
Aim: To determine the optimal dose of bolus oxytocin for uterine contractions for elective caesarean section under spinal anaesthesia.
Objectives: The health system of Kerala, India has won many accolades in having health indicators comparable to developed countries. But oral health has not received its due importance at the policy level. With the burden of oral diseases on the rise in the state, a critical introspection of the existing system is warranted.
View Article and Find Full Text PDFBackground: The prevalence of tobacco chewing, and related oral mucosal lesions is alarmingly high amongst the Paniya tribes of Wayanad. A deeper understanding of their socio-cultural factors, beliefs, attitudes and behaviours would shed greater insights into the indiscriminate use of smokeless tobacco and related products in this community.
Methods: Ethnography was the theoretical framework adopted with network and convenience sampling.
Background: The high incidence of dental diseases among Indian children can be attributed to low awareness regarding the oral health maintenance. The school health curriculum in India is deficient of an oral health component, and there are no organized oral health programs for schoolchildren existing at present. Therefore, the present study was conducted to assess the effectiveness of an oral health curriculum in improving the oral health behavior and dental caries experience in schoolchildren.
View Article and Find Full Text PDFAcquired hemophilia A or acquired factor VIII deficiency is a rare bleeding disorder due to the presence of autoantibodies to factor VIII. It has been associated with autoimmune conditions, certain medications, and malignancy. It has a high morbidity and mortality, and early diagnosis and treatment is critically important.
View Article and Find Full Text PDFBackground: To compare the anti plaque efficacy of Modified Bass, Fones and Normal brushing techniques in young adults.
Material And Methods: An investigator blinded randomized controlled trial with parallel design was adopted to compare the anti plaque efficacy of three tooth brushing techniques. The study population consisted of 120 dental students aged between 18 and 30 years.
Introduction: Health promoting school (HPS) is a holistic concept where health and learning coexist. The objective of this study was to assess the health promoting standards of schools in Kerala.
Methodology: A cross-sectional study was designed in Kerala, India, with schools in Kerala as a study unit.
Asian Pac J Cancer Prev
October 2019
Background: Parental influence may be a strong modifiable risk factor in the initiation of Tobacco habits among young adults. Parenting style may modify the risk of initiation of Tobacco use.
Objective: To examine the intergenerational transfer of Tobacco habits amongst the urban and tribal populations in Kerala.
Objective: A clinical equipoise exists between the plaque reducing efficacies of two of the most commonly used dentifrices in India. This study compared the plaque removal efficacy of a commercially available tooth powder with commercially available toothpaste in young adults.
Methods: This was an investigator-blinded randomized controlled clinical trial with crossover design conducted among 89 young adults aged 18 to 25 years.
Aim: The aim of the study is to compare the efficiency of six-stranded coaxial tubular superelastic nickel-titanium (NiTi) archwire and a single-stranded wire in relieving anterior mandibular crowding.
Materials And Methods: This double-blind randomized study included 40 patients, categorized into two groups: Sentalloy round group and Speed tubular supercable group (20 each). After taking alginate impressions, the allocated archwire was engaged.
Background: School based dental screening has been a popular public health intervention. However, literature provides contrasting evidence regarding effectiveness of such programs on the utilization of dental services.
Objectives: We designed this review to understand the differences in dental attendance rates of children below 15 years of age, receiving a school based dental screening versus those not receiving it.
We report the unusual case of a patient found to have a low glycosylated haemoglobin (HbA1c) despite having recently been diagnosed with diabetes mellitus type 2. The patient, who was not anaemic, with no symptoms or family history of haematological conditions, was subsequently found to have an elevated reticulocyte count, inferring increased red cell turnover as the culprit for the discordant HbA1c result. A diagnosis of hereditary spherocytosis was made based on characteristic peripheral blood film appearances and confirmed by eosin-5-maleimide binding test.
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