Archives of Neuroscience
Volume:10 Issue: 3, Jul 2023

Context:

There are severe and rare groups of genetic disorders due to defects in metabolic pathways, and they are generally called inborn errors of metabolism. Amino acids, as the building blocks of proteins, have many important structural and functional roles in the human body. The deficiencies of functional enzymes cause defects in metabolic pathways and lead to aminoacidopathies. The diagnosis of aminoacidopathies is challenging for most physicians, as they can present with multiple overlapping symptoms.

Evidence Acquisition: 

PubMed, Cochrane, Embase, and CINAHL were searched with MeSH terms: ‘inborn errors of metabolism’ OR ‘Metabolism, Inborn Errors’ (MeSH) AND ‘Humans’ (MeSH) AND ’Amino Acids/therapeutic use’[MeSH] AND ‘Newborn, Child’ (MeSH) OR ‘child’ OR ‘newborn’ AND "Neonatal Screening"[MeSH].

This study summarized some important issues, including clinical and laboratory diagnoses of phenylketonuria, tyrosinemia, methionine, homocysteine and cysteine, sulfite oxidase deficiency, molybdenum cofactor deficiency, tryptophan, glycine, hyperoxaluria, creatine deficiency disorders, serine, proline, glutamine, and urea cycle defect.

The prognosis of many metabolic disorders has improved due to recent advances in diagnosis and treatment. The biochemical knowledge of clinicians should be improved to comprehend metabolic disorders. As the diagnostic methods are based on organic acids in urine and acylcarnitine profile, it is necessary to enhance biochemistry knowledge to understand the logic.

Spinal cord injury (SCI) imposes a heavy burden on patients and health systems. Magnetic resonance imaging (MRI) provides a detailed evaluation of the spinal cord and associated soft tissues in a non-invasive manner.

We aimed to adopt and adapt suitable recommendations and guidelines in Iran for the utilization of MRI in the management of acute SCI patients based on available international guidelines and through a systematic review of literature, followed by guideline development based on the Delphi technique.

After the primary systematic searchandreview of the literatureandguidelinesonthe use of MRIin themanagementof acute SCI, all relevant recommendations were retrieved. Desired recommendations were then extracted and presented to our expert panel through the Delphi technique. The final decision for the inclusion or adaptation of recommendations to improve SCI care in the Iranian population was made through expert panel meetings.

Our literature search resulted in 769 records. Only three records provided recommendations on the role of MRI in the management of acute SCI, from which a total of six recommendations were extracted. Of these, the two final recommendations were extracted: (I) “Use MRI in adult patients with acute SCI prior to surgical interventions, when feasible, to facilitate clinical decision making,” and (II) “Use MRI in adult patients in the acute period following SCI and before or after surgical interventions (only when fixation is not used) to improve the prediction of neurologic outcomes following acute SCI.”

The final recommendations help appropriately use MRI in patients with acute SCI, facilitating the management of these patients and improving their outcomes. This study shows that it is possible for developing countries to indigenize international guidelines, and with minor changes, an appropriate therapeutic framework can be created to improve service delivery.

The deformity in the coronal plane is over-emphasized in the surgical management of adolescent idiopathic scoliosis (AIS), whereas the importance of the patient’s sagittal profile is generally neglected. Gold standard treatment in AIS consists of posterior instrumentation, deformity correction - through a reduction maneuver - and arthrodesis. The main focus in most reduction techniques is placed on the correction of deformity in the coronal and/or axial plane, worsening the patient’s sagittal profile.

This outcome analysis study aimed to investigate the surgical treatment of AIS patients with severe thoracic hypokyphosis (< 10) by adopting the posteromedial translation technique (PMT).

In this retrospective study, the data and records of the patients with minimum 2-year follow-ups were analyzed. Correction of the deformity was radiologically assessed based on Cobb’s angle, thoracic kyphosis, and apex translation. The Scoliosis Research Society 22-item questionnaire (SRS-22r) was used for clinical evaluation before and after the surgery.

A total of 11 AIS patients (8 females and 3 males) with hypokyphosis underwent operations by the PMT at Imam Khomeini Hospital Complex between 2000 and 2020. According to the results, 78% correction in the coronal plane and an average correction of 56° (P < 0.001) were obtained. As for the sagittal plane, 18.8° correction was recorded (75%) (P < 0.001). Scoliosis Research Society 22-item questionnaire subscale analysis showed a significant improvement in patients’ self-image (P = 0.035) and satisfaction (P = 0.043).

The management of hypokyphosis in AIS was challenging. The PMT facilitated the tri-planar deformity correction, including a restoration of the thoracic kyphosis in all patients. A significant improvement was observed in both the coronal and sagittal profiles of the patients.

Multiple sclerosis (MS) is categorized into four subtypes, including clinically-isolated syndrome (CIS), primary progressive multiple sclerosis (PPMS), secondary progressive multiple sclerosis (SPMS), and relapsing-remitting multiple sclerosis (RRMS). On the other hand, radiologically-isolated syndrome (RIS) is characterized by the imaging manifestations of MS rather than its clinical symptoms.

This study aimed to compare the sociodemographic and neuroimaging findings of different MS phenotypes and RIS.

The current cross-sectional study was conducted on 3716 patients at the Multiple Sclerosis Clinic of Kashani Hospital, Isfahan, Iran, from June 2018 to April 2019. Patients presenting with RIS, CIS, and MS were included in this study.

The age of disease onset was remarkably lower in patients with RRMS, while the body mass index was significantly higher in RIS (P-value < 0.05). Other factors, including gender, occupation, marital status, smoking, and family history of MS, showed no significant difference (P-value > 0.05). Neuroimaging assessments revealed significant differences in terms of the location of the plaques, the activity of the plaques, brain atrophy, lesion load, the number of cervical plaques, and the presence of longitudinally-extended transverse myelitis (P-value < 0.05), but not regarding the activity of cervical and thoracolumbar plaques and the number of thoracolumbar lesions (P-value > 0.05).

Different MS phenotypes showed variations in terms of sociodemographic and neuroimaging characteristics. Follow-up studies are recommended to determine the risk factors predicting the conversion of RIS and CIS to other MS phenotypes.

Multiple Sclerosis (MS) is a multifactorial disease that causes neurological disability. Human retroviruses may have a role in the etiology of several acute and chronic neurological disorders.

We aimed to investigate the presence of HTLV-I/II and HIV antibodies in the sera of MSpatients to assess the relationship between these infections and MS.

This case-control study was conducted on serum samples of MS patients and individuals admitted to the same hospital with no symptoms of MS as the control group. Samples were examined for HIV and HTLV-I/II antibodies using ELISA kits.

A total of 79 people, including 38 MS patients and 41 healthy individuals, were evaluated. The frequency of HIV antibodies was 0.0% in both the case and control groups. The HTLV-I/II antibodies were detected in 1 patient in the control group andnopatients in the MS group, with no statistically significant difference between the two groups (P: 0.999).

This study could not establish a relationship between the presence of HTLV-I/II or HIV antibodies and MS.

Multiple sclerosis (MS) is the most common debilitating chronic autoimmune and inflammatory disorder of the central nervous system. Compared to the general population, MS patients are at a higher risk of contracting various diseases.

This study aimed to determine the challenges related to the injection of COVID-19 vaccines in people with MS.

In this qualitative research that was conducted on patients with MS, the data were collected in a secure environment through semi-structured interviews. We continued the interviews until data saturation, which was reached after 10 interviews, but 2 more interviews were conducted to make sure of data saturation. The duration of each interview was 30 - 45 minutes, depending on each patient’s condition. The data were managed in MAXQDA 10.

Of the participants, 66% werefemale, andthe average age of the patientswas47 years. After analyzing the interviews, 4main categories and 19 subcategories were extracted: mental concerns (hearing rumors, hearing news of death due to COVID-19, worrying about theunknownsof newvaccines, and worrying about side effects and treatment interactions), quarantine suffering(movement complications, depression, weak immune system, social distancing, and compliance with health protocols), educational resources (doctors, clinic staff, national media, cyberspace, and family) and personal experiences (effectiveness of the COVID-19 vaccine, reduction of symptoms compared to unvaccinated people, and having no complications).

It is essential to take measures to decrease the existing challenges. For example, the patients were afraid of drug interactions and the lack of full understanding of the disease by doctors. In general, they had many questions, while they did not knowa reliable source of information. They chose doctors as themostreliable source; this choiceshowsthe importanceandcapacity of the doctor’s position in relation to vaccination, which can be used to explainandpromotevaccination in schools, offices, factories, and other parts of society. Besides, in relation to research on new diseases, a task force should be formed for each disease, and the mutual impacts of diseases and their drug interactions should be investigated; in this way, fewer concerns and problems arise during vaccination and treatment.

Preclinical studies have shown that neurotrophic factors, including brain-derived neurotrophic factor (BDNF) and glial cell line-derived neurotrophic factor (GDNF), are involved in the modulation of biochemical and behavioral adaptations to substance use.

We studied the impact of GDNF and BDNF serum levels on adherence to methadone maintenance treatment (MMT) through cross-sectional research. Participants were clients on MMT (43 males), subjects in remission from opioid use disorder (12 males), and healthy controls (20 males). Adherence and non-adherence to treatment were assessed by the detection of illicit opioids in random urinalysis.

Using t-tests for independent groups and analysis of variance (ANOVA), GDNF serum levels in the adherent patients toMMT were found to be significantly higher than in the non-adherent patients. BDNF serum levels were not different between adherent and non-adherent patients.

Our results suggest the involvement of GDNF as a biological factor in adherence to MMT.

Multiple sclerosis (MS) is an autoimmune inflammatory disorder of the central nervous system of unknown etiology, which is believed to be caused by immune dysregulation triggered by genetic and environmental factors, leading to demyelination and axonal loss. Researchers consider infectious agents, like Helicobacter pylori, as these environmental factors. H. pylori can permanently infect someone’s stomach and cause an acute or chronic inflammatory response, in which inflammatory mediators affect the brain and cause a pathologic disease.

In this cross-sectional study, 38 patients with multiple sclerosis who were referred to the Neurology Clinic of Ghaem Hospital were included, and their serum samples were analyzed for IgM, IgA, and IgG antibodies against H. pylori by using enzyme-linkedimmunosorbentassay (ELISA). Resultswerecomparedwith the samples of 41 sex-andage-matched controls admitted to other wards of Ghaem Hospital & had no symptoms of MS. In the end, we analyzed the data with SPSS v.20.

In this study, 79 patients, including 38 patients with MS disease in the case group and 41 healthy individuals in the control group, were studied. These two groups had no significant differences in demographic characteristics, including age, gender, and occupation. H. pylori seropositivity was significantly higher in patients with MS than in controls (68.4% vs 39%) (P = 0.009). In addition, comparing H. pylori seropositivity in 20 of 30 patients with relapsing-remitting MS versus 6 of 8 patients with progressive MSsuggested a significant difference between these two groups (P = 0.030). Also, H. pylori seropositivityhadnosignificant difference between males and females (39.1% vs 58.9%).

The prevalence of H. pylori seropositivity was significantly higher in patients with MS than in control, besides this seems more frequent in a progressive type of MS than in a relapsing-remitting one, suggesting that H. pylori might be a causal factor for developing & progressing MS and this may have an adverse impact on the prognosis and course of the disease.