Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation

Epileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We report a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.

ALS2-related disorders in Spanish children

ALS2 gene encoding for alsin protein is responsible for neurological disorders due to retrograde degeneration of the upper motor neurons of the pyramidal tracts, inherited in an autosomal recessive manner, and displaying a clinical continuum including the infantile ascending hereditary spastic paraplegiaidentified in three Spanish children presented here.

TELEMEDICINE IN TIMES OF CORONAVIRUS DISEASE-19 AT A TERTIARY CARE GOVERNMENT HOSPITAL IN UTTAR PRADESH, INDIA

Objective: The present study aimed to describe the common symptoms and diagnosis for each specialty which can be used in future for expansion of teleconsultation services and implementation of the E Sanjeevani model in health care. Methods: This is a cross-sectional observational study which comprises the data collected from various specialties over a 4-month period. The telemedicine consultations were given by the consultants of the concerned specialty in adherence to the telemedicine guidelines issued by the government and mostly generic names of the medicine were advised to the patients. The demographic details, chief complaint of the patient, diagnosis, and treatment were recorded. Results: The total number of calls which was received in 4 months period at the telemedicine center in Government Medical College, Ayodhya, was 4848. Maximum number of calls was attended by the department of obstetrics and gynecology which was 771 (15.9%). Coronavirus disease (COVID-19) had a substantial and transformative influence on routine clinical practice across the entire clinical continuum in a very short period of time. Conclusion: The use of telemedicine emerged as a critical tool to improve the provision of health services. The virtual media and other technologies that can be delivered to patients doorsteps need to strengthened. The trailer which telemedicine showed up in times of COVID-19 can definitely produce a good show in days to come with proper communication between the service provider and receiver.

Frontal and Cerebellar Atrophy Supports FTSD-ALS Clinical Continuum

BackgroundFrontotemporal Spectrum Disorder (FTSD) and Amyotrophic Lateral Sclerosis (ALS) are neurodegenerative diseases often considered as a continuum from clinical, epidemiologic, and genetic perspectives. We used localized brain volume alterations to evaluate common and specific features of FTSD, FTSD-ALS, and ALS patients to further understand this clinical continuum.MethodsWe used voxel-based morphometry on structural magnetic resonance images to localize volume alterations in group comparisons: patients (20 FTSD, seven FTSD-ALS, and 18 ALS) versus healthy controls (39 CTR), and patient groups between themselves. We used mean whole-brain cortical thickness (CT¯) to assess whether its correlations with local brain volume could propose mechanistic explanations of the heterogeneous clinical presentations. We also assessed whether volume reduction can explain cognitive impairment, measured with frontal assessment battery, verbal fluency, and semantic fluency.ResultsCommon (mainly frontal) and specific areas with reduced volume were detected between FTSD, FTSD-ALS, and ALS patients, confirming suggestions of a clinical continuum, while at the same time defining morphological specificities for each clinical group (e.g., a difference of cerebral and cerebellar involvement between FTSD and ALS). CT¯ values suggested extensive network disruption in the pathological process, with indications of a correlation between cerebral and cerebellar volumes and CT¯ in ALS. The analysis of the neuropsychological scores indeed pointed toward an important role for the cerebellum, along with fronto-temporal areas, in explaining impairment of executive, and linguistic functions.ConclusionWe identified common elements that explain the FTSD-ALS clinical continuum, while also identifying specificities of each group, partially explained by different cerebral and cerebellar involvement.

Herbal approach for the management of C0VID-19: an overview

COVID-19 is the most recently discovered coronavirus infectious disease and leads to pandemic all over the world. The clinical continuum of COVID-19 varies from mild illness with non-specific signs and symptoms of acute respiratory disease to extreme respiratory pneumonia and septic shock. It can transmit from animal to human in the form of touch, through the air, water, utensils, fomite and feco-oral route blood. The pathogenesis and clinical features of COVID-19 be the same as the clinical manifestation associated epidemic Fever. In Unani medicine, various herbal drugs are described under the caption of epidemic disease. Great Unani scholar also Avicenna (980–1037 AD) recommended that during epidemic condition movement should be restricted, self-isolation, fumigation around the habitant with perfumed herbs (Ood, Kafoor, Sumbuluttib, Saad Kofi, Loban, etc.), and use of appropriate antidotes (Tiryaqe Wabai) and vinegar (Sirka) as prophylaxis. Herbal approach is based on single (Unnab—Ziziphus jujuba, Sapistan—Cordia myxa, Bahidana—Cydonia oblonga, Khatmi—Althea officinalis, Khubazi—Malva sylvestris, Zafran—Crocus sativus, Sibr—Aloe barbedensis, Murmuki—Commiphora myrrha, Darchini—Cinnamomum zeylanicum, Qaranfal—Syzygium aromaticum, Rihan—Oscimum sanctum, Habtus Sauda—Nigella sativa, Aslus Sus—Glycyrrhiza glabra, Maghze Amaltas—Cassia fistula and Adusa—Adhatoda vasica) and compound drugs (Habbe Bukhar, Sharbat Khaksi, Sharbat Zanjabeel, Naqu Nazla, Majoon Chobchini, Jawrish Jalinus and Khamira Marvareed) most of them are claimed for anti-viral, anti-pyretic, blood purifier, cardioprotective and expectorant activities. Traditionally most of the herbal practitioners are using it.

Preeclampsia: The Need for a Biological Definition and Diagnosis

The centuries-old approach to the prevention of eclampsia and its associated maternal morbidity and mortality is based on the recognition of the presence of premonitory signs and symptoms such as hypertension and proteinuria. The spectrum of preceding signs and symptoms came to be known as preeclampsia, which is debatably considered to be an early stage on a clinical continuum possibly leading to eclampsia. The premonitory signs and symptoms were then construed as diagnostic criteria for the poorly understood syndrome of preeclampsia, and this led to a perpetual debate that remains subject to wide disagreement and periodic updates. In this commentary, we will draw attention to the fact that the criteria for preeclampsia should be viewed from the prism of a screening test rather than as diagnostic of a condition in itself. Focusing research on developing better diagnostic and screening methods for what is clinically important, namely maternal and perinatal morbidity and mortality from hypertensive disorders of pregnancy, a long overdue upgrade from what was possible centuries ago, will ultimately lead to better management approaches to what really matters.

Visual snow syndrome

ObjectiveTo validate the current criteria of visual snow and to describe its common phenotype using a substantial clinical database.MethodsWe performed a web-based survey of patients with self-assessed visual snow (n = 1,104), with either the complete visual snow syndrome (n = 1,061) or visual snow without the syndrome (n = 43). We also describe a population of patients (n = 70) with possible hallucinogen persisting perception disorder who presented clinically with visual snow syndrome.ResultsThe visual snow population had an average age of 29 years and had no sex prevalence. The disorder usually started in early life, and ≈40% of patients had symptoms for as long as they could remember. The most commonly experienced static was black and white. Floaters, afterimages, and photophobia were the most reported additional visual symptoms. A latent class analysis showed that visual snow does not present with specific clinical endophenotypes. Severity can be classified by the amount of visual symptoms experienced. Migraine and tinnitus had a very high prevalence and were independently associated with a more severe presentation of the syndrome.ConclusionsClinical characteristics of visual snow did not differ from the previous cohort in the literature, supporting validity of the current criteria. Visual snow likely represents a clinical continuum, with different degrees of severity. On the severe end of the spectrum, it is more likely to present with its common comorbid conditions, migraine and tinnitus. Visual snow does not depend on the effect of psychotropic substances on the brain.