Practical aspects of therapy for glutaric aciduria type 1

Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the amino acid metabolic pathways. The decreased activity of the enzyme leads to accumulation of neuro‑ toxic metabolites. The recommended treatment approaches for GA1 are the prescription of specialized nutrition products, levocarnitine, and symptomatic management. In 2021, clinical guidelines for the treatment of this rear disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as GA1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation.The article gives a detailed case‑based description of management during metabolic decompensation and the choice of dietary therapy for GA1 patients of different age groups.

HUNTINGTON’S DISEASE: CURRENT ADVANCES AND FUTURE PROSPECTS

Huntington’s disease is a neurodegenerative disease which is caused by dominantly inherited cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene of chromosome 4. Present survey reveals 2.7 per 100000 people are affected by huntington’s disease worldwide. The symptoms present with these patients are progressive motor, cognitive and psychiatric disorders. The early symptoms are chorea and loss of balance. This review aims to observe the present data available concerning huntington’s disease, symptoms, age of onset, risk factors, benefits of early diagnosis and genetic attribution. There is no cure for the disease. The article searched, selected and reviewed were from google scholar, medscape, NIH MedlinePlus, PubMed database using MeSH terms huntington’s disease, recent therapeutic advancement from 2003 to July 2021 with no language restriction and additional studies were included from the reference lists of relevant articles. The present review provides clinical features, diagnosis, symptomatic management and ongoing research. Hence this review will have an impact to create awareness for the society and researchers to find future treatment for Huntington’s disease.

Disease-modifying therapies and symptomatic management for primary biliary cholangitis

Primary biliary cholangitis is a chronic condition characterised by autoimmune destruction of intralobular bile ducts. Publications have shown widespread gaps in the care of patients with primary biliary cholangitis. This article reviews the literature regarding currently licensed first- and second-line therapies and evaluates therapeutic options for symptomatic management of primary biliary cholangitis. Ursodeoxycholic acid is recommended for all patients with primary biliary cholangitis, with obeticholic acid available as second-line therapy, both having demonstrated safety and efficacy. Potential disease-modifying therapies, such as fibrates and budesonide, require further investigation before licensing. Cholestyramine is first-line therapy for pruritus, albeit with limited evidence and common side-effects. There is no licensed therapy for primary biliary cholangitis-related fatigue; treating underlying causes where applicable is recommended. Disease-modifying and symptomatic therapies must be considered in tandem when managing patients with primary biliary cholangitis. Emerging therapies show initial promise but further randomised trials with long-term follow up are required to evaluate their efficacy as single or combination therapies.

An Accidental Emamectin Benzoate Poisoning In Child: A Case Report

Background: Emamectin Benzoate has high GABA (Gamma Amino Butyric Acid) receptor affinity and increase chloride membrane permeability. It is the 4'-deoxy-4'-epi-methyl-amino benzoate salt of avermectin B1 (abamectin), obtained from natural fermentation products of Streptomyces Avermitilis.Report: This case report describes the accidental poisoning of Emamectin Benzoate 5% w/ws in a female child. The child was brought to the emergency department(ED) with complaints of nausea, vomiting and abdominal pain. She consumed a packet of “LURA” (5% w/w Soluble Granule (SG) Emamectin Benzoate) supposing it as a packet of “JALJEERA” (a commonly used beverage) since there was no proper labelling. The patient was hemodynamically stable and underwent vigorous gastric lavage with normal saline, activated charcoal and coconut oil. Her blood report was normal for serum electrolytes and renal function. She was admitted in medical ward for symptomatic management and observation. She was given antiemetics, IV fluids and antacids and discharged in 2 days. In follow up after 1 week, she did not have any complain, her gastrointestinal symptoms had completely resolved and she was doing very well.Conclusion: In absence of specific antidote, vigorous gastric lavage with both activated charcoal and coconut oil improves the outcome in Emamectin Benzoate poisoning.

Rate of Recovery and Symptomatic Efficacy of a Polyherbal AYUSH Formulation in the Treatment of SARS CoV-2 disease: A Single-arm trial

Background The COVID-19 pandemic, caused by the human coronavirus SARS- CoV-2, has led to millions of deaths across the globe. Not only is the SARS-CoV-2 virus highly infectious, it also mutates very easily. This creates additional challenges for development of robust therapeutic solutions. Along with modern system of healthcare, there is a definite need for exploring natural plant based antiviral compounds directed against the SARS CoV-2 virus. Objective The present observational study investigates the efficacy of an Ayurvedic polyherbal formulation of 19 ingredients, NOQ19, in the management of COVID-19. Methodology: A single arm, single centric, open label study design was adopted for this feasibility study. 161 RT-PCR positive COVID-19 patients were enrolled. The enrolled participants were provided the Ayurvedic intervention, 2 tablets of NOQ19, thrice daily along with the standard of care treatment. Follow up COVID-19 RT- PCR tests were conducted on Day 5, Day 10 and Day 14, or until the patient turned negative. The time required for testing negative on the RT-PCR test or becoming asymptomatic was noted. Results A subjective analysis demonstrated that 74% of patients turned RT-PCR negative within 5 days of taking NOQ19. Additionally, 98% of the subjects turned RT-PCR Negative on Day 10 after taking NOQ19 in addition to the standard of care treatment of Vitamin C, Zinc and antipyretic (as necessary). None of the participants reported any adverse or side effects to the medication. Conclusion NOQ19 Ayurvedic polyherbal formulation can be an effective and safe option for the symptomatic management of COVID-19.

Rate of Recovery and Symptomatic Efficacy of a Polyherbal AYUSH Formulation in the Treatment of SARS CoV-2 disease: A Single-arm trial

Background The COVID-19 pandemic, caused by the human coronavirus SARS CoV-2, has led to millions of deaths across the globe. Not only is the SARS CoV-2 virus highly infectious, it also mutates very easily. This creates additional challenges for development of robust therapeutic solutions. Along with modern system of healthcare, there is a definite need for exploring natural plant based antiviral compounds directed against the SARS CoV-2 virus. Objective The present observational study investigates the efficacy of an Ayurvedic polyherbal formulation of 19 ingredients, NOQ19, in the management of COVID-19. Methodology: A single arm, single centric, open label study design was adopted for this feasibility study. 161 RT-PCR positive COVID-19 patients were enrolled. The enrolled participants were provided the Ayurvedic intervention, 2 tablets of NOQ19, thrice daily along with the standard of care treatment. Follow up COVID-19 RT- PCR tests were conducted on Day 5, Day 10 and Day 14, or until the patient turned negative. The time required for testing negative on the RT-PCR test or becoming asymptomatic was noted. Results A subjective analysis demonstrated that 74% of patients turned RT-PCR negative within 5 days of taking NOQ19. Additionally, 98% of the subjects turned RT-PCR Negative on Day 10 after taking NOQ19 in addition to the standard of care treatment of Vitamin C, Zinc and antipyretic (as necessary). None of the participants reported any adverse or side effects to the medication. Conclusion NOQ19 Ayurvedic polyherbal formulation can be an effective and safe option for the symptomatic management of COVID-19.

A Man With Recurrent Headache and Focal Neurologic Deficits

A 42-year-old healthy man sought care for transient episodes of neurologic deficits followed by severe headache. The first episode began with left hand weakness, numbness, and dysarthria, followed approximately 1 hour later by a right temporal headache. His symptoms spontaneously resolved after 8 hours. He had a second episode 2 days later manifested by confusion and bilateral lower extremity numbness, again followed by severe headache with symptoms resolving within 12 hours. A total of 8 episodes occurred over 3 weeks, each lasting 8 to 24 hours, with spontaneous resolution each time. His most recent episode occurred during cerebral angiography. Cerebrospinal fluid evaluation showed opening pressure, 190 mm H2O; white blood cells, 205/μ‎L, 97% lymphocytes; protein, 95 mg/dL; and glucose, 40 mg/dL. Electroencephalography demonstrated right greater than left generalized slowing, with increased-voltage rhythmic delta wave activity, in the frontal regions predominantly. Conventional cerebral angiography findings were normal, but the test appeared to provoke the patient’s previous episode. Neurologic examination was normal after his most recent episode resolved, and no further episodes were reported. This case highlights a typical presentation of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. Because the disorder was self-limited, treatment was aimed at symptomatic management of headache. In this case patient with a secure diagnosis of headache and neurologic deficits with cerebrospinal fluid lymphocytosis and stereotypical episodes limited to 3 months after the initial presentation, additional testing was not indicated. Headache and neurologic deficits with cerebrospinal fluid lymphocytosis is a rare, self-limited, benign condition with migrainelike headache episodes accompanied by transient neurologic deficits usually lasting more than 4 hours, with some deficits lasting more than 24 hours.

COVID-19 vaccine-associated subacute thyroiditis: an unusual suspect for de Quervain’s thyroiditis

Subacute thyroiditis following vaccination is an uncommon presentation of thyrotoxicosis. As the world undertakes its largest immunisation campaign to date in an attempt to protect the population from COVID-19 infections, an increasing number of rare post vaccine side effects are being observed. We report a case of a middle-aged woman who presented with painful thyroid swelling following the second dose of the COVID-19 mRNA vaccine BNT162b2 (Pfizer–BioNTech) with clinical, biochemical and imaging features consistent with destructive thyrotoxicosis. Symptomatic management only was required for the self-limiting episode. Thyroiditis typically has a mild and self-limiting course and thus this observation should not deter people from vaccination, as COVID-19 infection has a far greater morbidity and mortality risk than thyroiditis.

Role of HRCT Chest in Diagnosing Covid-19 Disease in Initially RT-PCR Negative Patients

Objective: To analyze CTSS score in clinically symptomatic COVID-19 patients having initial negative RT-PCR report. Design of the Study: It’s a retrospective cross sectional descriptive study. Study Settings: This study was carried out at Radiology Department, CMH Lahore from July to December 2021. Material and Methods: A total of 1000 patients presented with suspected clinical symptoms of covid-19. 770 were male patients (average of 52±15yrs) and 230 were female patients (49±15 years).Out of which 235 (23.5%) patients had initial negative PCR report & 765 patients had initial PCR positive report. 235 initial PCR negative patients got positive PCR report on subsequent repeat testing. All the patients underwent HRCT chest. Results of the Study: CTSS score of 765 PCR positive patients was determined as 545 (71.2%) having mild to moderate disease (<19.5 CTSS) and 220 (28.7%) as having severe disease (>19.5 CTSS).CTSS score of 235 PCR negative patients was determined on HRCT chest and classified as 210 (89.3%) having mild to moderate disease (<19.5 CTSS) and 25 (10.6%) as having severe disease (>19.5 CTSS). CO-RADS scoring were done and HRCT pattern analyzed in all the patients according to the standard protocol. Multivariate analysis was performed and showed significant correlation between CTSS score and initial PCR negative patients. Sensitivity and specificity of CT chest in determining covid-19 findings was 89.3% and 28.7%.PPV was 89.8% and NPV was 27.8%. Conclusion: HRCT with CTSS scoring is an important tool for diagnosis of COVID-19 infection despite initial negative PCR, having sensitivity and specificity of 89.3% and 28.7% respectively. Timely identification and isolation of COVID-19 patients is helpful in preventing the spread of infection and also aid in prompt symptomatic management. Keywords: COVID-19, Computed Tomography, Ground-Glass Opacity, Reverse Transcriptase Polymerase Chain Reaction.