Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study.

Introduction and importance: Cytochrome C oxidase (COX) deficiency is an uncommon inherited metabolic disorder. It is identified by a lack of the COX, also known as Complex IV. This enzyme plays a crucial role in the rate-limiting and oxygen-accepting step of the respiratory chain within the subcellular structures called mitochondria. The deficiency of COX can either be restricted to skeletal muscle tissues or can impact multiple tissues throughout the body. Case presentation: A 3-year-old girl was admitted due to muscle weakness and a decline in developmental milestones 7 days after a significant stressor. Leukodystrophy was observed in the brain magnetic resonance imaging, and genome sequencing identified a homozygous mutation in exon 1 and 7 of chromosome 17. This mutation led to a deficiency in COX10, which is a component of mitochondrial complex IV. Clinical discussion: In the medical field, inherited metabolic disorders can be complex to diagnose due to overlapping symptoms with other conditions. Mitochondria's oxidative phosphorylation system, including the COX enzyme complex, plays a crucial role in energy production. Mitochondrial disorders, including COX deficiency, can present at various stages of life with diverse symptoms. Treatment options focus on supportive care and potential benefits from supplements like coenzyme-Q10 and small-molecule therapies targeting mitochondrial function. Identifying genetic mutations is key for advancing treatments in this area. Conclusion: This report presents a unique case of developmental regression and muscle weakness in a paediatric patient, which can be attributed to a rare occurrence of type 3 nuclear mitochondrial complex IV deficiency.

Association of preoperative CT-scan features and clinically relevant postoperative pancreatic fistula after pancreaticoduodenectomy: a meta-analysis.

BACKGROUND: Clinically relevant postoperative pancreatic fistula (CR-POPF) is a significant complication after pancreaticoduodenectomy. CR-POPF is associated with various adverse outcomes, including high mortality rates. Identifying complication predictors for CR-POPF, such as preoperative CT scan features, including pancreatic attenuation index (PAI) and pancreatic duct diameter (PDD), is critical. This systematic review and meta-analysis consolidate existing literature to assess the impact of these variables on CR-POPF risk. METHODS: Our comprehensive search, conducted in May 2023, covered PubMed, Scopus, Embase, and Web of Science databases. Inclusion criteria encompassed peer-reviewed cohort studies on pancreaticoduodenectomy, focusing on preoperative CT scan data. Case reports, case series, and studies reporting distal pancreatectomy were excluded. The quality assessment of included articles was done using New-Castle Ottawa Scale for cohort studies. Statistical analysis was carried out using Review Manager 5. This study was registered at the International Prospective Register of Systematic Reviews database (PROSPERO) on 12 May 2023 (registration number: CRD42023414139). RESULTS: We conducted a detailed analysis of 38 studies with 7393 participants. The overall incidence of CR-POPF was 24%. Multiple linear regression analyses revealed that PDD and pancreatic parenchymal thickness were significantly associated with CR-POPF. CONCLUSION: Our systematic review and meta-analysis shed light on CT scan findings for predicting CR-POPF after Whipple surgery. Age, PDD, and pancreatic parenchymal thickness significantly correlate with CR-POPF.

Efficacy of supervised self-reduction vs. physician-assisted techniques for anterior shoulder dislocations: a systematic review and meta-analysis.

BACKGROUND AND OBJECTIVE: Reduction manipulation using self-reduction procedures such as Stimson, Milch, and Boss-Holtzach should be easy and effective and also require less force, pain medication, and outside assistance. This technique should not cause damage to arteries, nerves, or shoulder joint components. Self-reduction is straightforward and can be done in clinics, making it ideal for people who suffer from shoulder joint dislocation frequently. The goal of this study is to compare the effectiveness of supervised self-reduction procedures vs. physician-assisted treatments in the treatment of anterior shoulder dislocations. METHOD: We conducted a comprehensive search on PubMed, Scopus, Web of Science, and Cochrane up to March 22, 2023, using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Relevant articles were reviewed, with a focus on studies comparing supervised self-reduction techniques to physician-assisted techniques in cases of anterior shoulder dislocation. RESULTS: Four papers in all were included in the meta-analysis. One prospective trial, one case-control study, one randomized clinical trial, and one retrospective trial made up these studies. The studies involved 283 patients in the physician-assisted group and 180 patients in the supervised self-reduction group. They were carried out in four European countries: Italy, Germany, Portugal, and Spain. The success rate of supervised self-reduction techniques was significantly higher, with an odds ratio of 2.71 (95% CI 1.25-5.58, p-value = 0.01). Based on the Visual Analog Scale (VAS) score, the physician-assisted group reported significantly higher maximum pain, with a mean difference of 1.98 (95% CI 1.24-2.72, p-value < 0.01). The self-reduction approaches exhibit shorter reduction time in comparison to physician-assisted groups. In addition, the self-reduction groups do not document any complications. Based on the GRADE system, the level of assurance in the evidence was high. CONCLUSION: Supervised self-reduction techniques outperform in terms of success rate and reduction-related maximum pain. These techniques could be used as an effective first-line treatment for anterior shoulder dislocation, potentially reducing the need for analgesics and emergency room visits.

The therapeutic effect of alcoholic extract of Fumaria parviflora on high-fat diet-induced nonalcoholic fatty liver in rats: an animal experiment.

Background and purpose: Nonalcoholic fatty liver disease (NAFLD) is a growing problem with a significant burden. Lifestyle modification is the recommended treatment, but researchers are exploring other options. This study focused on the effects of Fumaria parviflora (FP) extracts on NAFLD induced by a high-fat diet in rats. Experimental approach: Thirty-five 10-week-old male Wister-Albino rats were divided into seven groups: normal diet control, high fat diet control, high fat diet with oral normal saline gavage, high fat diet with oral Atorvastatin gavage, and three groups receiving high fat diet with FP extract in 200 mg/kg, 400 mg/kg, and 700 mg/kg.Blood samples of rats were used for the measurement of total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride (TG), alanine aminotransferase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP).1×1 cm Liver biopsies were taken, stained with Trichrome Stain (Masson) and Hematoxylin and eosin (H&E) stain for evaluation by a pathologist. Findings/results: Lab results showed that FP extract inhibits weight gain, has positive effects on triglyceride and alkaline phosphatase levels, and reduces hepatocyte ballooning and inflammation in rats. Conclusion: FP extract may lower liver enzymes and have a positive impact on triglyceride, LDL, and HDL levels in rats with NAFLD.

An unusual imaging presentation of pediatric bacterial meningoencephalitis: a case-report study.

Background: Bacterial meningoencephalitis is a serious infection affecting the brain and its surrounding membranes. While imaging studies play a crucial role in diagnosing this condition, the typical radiological findings are well-documented. However, this case report describes an unusual imaging presentation that deviates from the expected patterns, emphasizing the need for awareness of such variations. Case presentation: A 7-year-old female with no prior medical history was referred to our hospital with fever, seizure, and loss of Consciousness. She had mild flu a week before admission. The duration of seizure episodes were 2-3 min, with tonic-clonic uncontrollable jerky movements. Brudzinski and Kernig signs were positive and plantar reflex was upward bilaterally in the physical examination. The computed tomography (CT) scan showed brain ventriculomegaly/hydrocephalus, and MRI findings indicated multiple foci located at cerebellum, basal ganglia, and thalamus alongside intensely restricted diffusion of the layering debris, suggesting pyogenic ventriculitis. Cerebrospinal fluid (CSF) analysis showed severe hypoglycorrhachia, despite non-significant increase of protein. The patient was undergone antibiotic therapy with ceftriaxone, vancomycin and rifampin, resulting in normalization of CSF values. Conclusion: This case report highlights the importance of recognizing and interpreting unusual imaging presentations of bacterial meningoencephalitis in paediatric patients. It emphasizes the need for a comprehensive diagnostic approach, including clinical evaluation, laboratory tests, and imaging studies, to ensure accurate diagnosis and appropriate management of this potentially life-threatening condition. Further research and awareness of atypical imaging findings are warranted to enhance our understanding and improve patient outcomes.

Pediatric acute hydrocephalus developing after tubercular meningitis: a case report study.

Background: Tuberculosis ranks second as the most common cause of death among infectious diseases, preceded only by COVID-19, which can involve multiple organs. Tuberculous meningitis (TBM) is known to have serious and atypical complications affecting the central nervous system, especially in more vulnerable populations such as children and adolescents. Case presentation: The 15-year-old female patient was admitted to the hospital with altered mental status after complaining of nausea, weakness, and cough for 3 weeks. A chest computed tomography (CT) scan showed cavitary lesions, a lumbar puncture sample had a glucose level of 15 mg/dl, and the brain CT scan revealed acute hydrocephalus. While the patient was treated with anti-tubercular medications, an external ventricular drain was placed and the patient was monitored. Conclusion: This report presents acute hydrocephalus as a rare and atypical consequence of disseminated tubercular infection resulting in meningitis.

Effects of whole-body vibration on chronic ankle instability: a systematic review.

Background and objective: Chronic ankle instability (CAI) is one of the most common sports injuries, and whole-body vibration (WBV) training has been used lately as a potential rehabilitation modality for these patients. The authors conducted a systematic review and meta-analysis to assess whether WBV training positively affects patients with CAI. Materials and methods: The authors systematically searched four databases, including MEDLINE (PubMed), Scopus, Web of Science, and Cochrane Central Register of Controlled Trials, for randomized and non-randomized trials evaluating the effects of WBV on individuals with CAI. The authors used Cochrane RoB2 to assess the risk of bias in randomized trials. A meta-analysis was conducted if three or more studies measured the same outcome. Effect estimates were pooled using a random-effects model. Results: Results were retrieved from seven articles encompassing 288 participants who had CAI. The reach distance of the Star Excursion Balance Test (SEBT) was regarded as the study's main finding. The authors saw a significant training effect on certain planes of motion on dynamic balance. The findings showed that the post-intervention measurements in the WBV group compared to control groups showed improvements in the posterolateral, posteromedial, and medial directions, respectively. There were also promising results on improvements in muscle activity, strength, and proprioception sense measurements with a great diversity in the reported parameters. Conclusion: The authors observed a significant WBV training effect on dynamic balance over posterolateral, posteromedial, and medial reach distances. These findings suggest future studies on the effects of WBV on muscle activity, strength, and proprioception in addition to dynamic and static balance.

Efficacy and safety of 5-hydroxytryptamine-3 (5-HT3) receptor antagonists in augmentation with selective serotonin reuptake inhibitors (SSRIs) in the treatment of moderate to severe obsessive-compulsive disorder: a systematic review and meta-analysis of randomized clinical trials.

Obsessive-compulsive disorder (OCD) is the fourth most common mental disorder, and selective serotonin reuptake inhibitors (SSRIs) are the cornerstone of its pharmacological treatment. About 40-60% of the cases are treatment-refractory, and this makes searching for second-line treatment necessary. 5-Hydroxytryptamine-3 (5-HT3) antagonists are among the many medications that have been used in augmentation with SSRIs. In this systematic review and meta-analysis, we assessed the efficacy and safety of 5-HT3 receptor antagonists in augmentation with SSRIs in treating moderate to severe OCD. We searched PubMed, Web of Science, Scopus, Cochrane library, and Google Scholar for relevant trials published up to December 2022. The effect size was the mean difference in Yale-Brown obsessive compulsive scale (Y-BOCS) scores before and after receiving 5-HT3 receptor antagonist drugs in augmentation with SSRIs in moderate to severe OCD patients. We included 6 randomized-controlled trails (RCTs) with 334 patients assessing the effect of the augmentation of SSRIs with ondansetron, granisetron, and tropisetron on treating moderate to severe OCD. Our results were in favor of the experimental group in total (Z = 8.37, P < 0.00001), in the compulsion subgroup (Z = 5.22, P < 0.00001), and in the obsession subgroup (Z = 8.33, P < 0.00001). They are well-tolerated, and have mild side effects and do not result in withdrawal. Augmentation of 5-HT3 antagonists with SSRIs can be beneficial in treating moderate to severe OCD. Further multi-center trials under adequate conditions in longer periods are needed to help come up with a comprehensive action plan.

Ecological momentary interventions for smoking cessation: a systematic review and meta-analysis.

BACKGROUND AND OBJECTIVES: Tobacco use is an important cause of preventable mortality and morbidity worldwide. Only 7% of smokers successfully quit annually, despite numerous evidence-based smoking cessation treatments. An important reason for failure is barriers to accessing appropriate smoking cessation interventions, which can be minimized by technology-delivered interventions, such as ecological momentary interventions. Ecological momentary interventions provide the right type and intensity of treatment in real time, based on ecological momentary assessments of relevant variables. The aim of this review was to assess the effectiveness of ecological momentary interventions in smoking cessation. METHODS: We searched MEDLINE, Scopus, CENTRAL, psychINFO, and ProQuest without applying any filters on 19 September, 2022. One author screened search results for obvious irrelevant and duplicate studies. The remaining studies were independently reviewed by two authors to exclude irrelevant studies, and then they extracted data from the included studies. We collated study findings, transformed data into a common rubric, and calculated a weighted treatment effect across studies using Review Manager 5. FINDINGS: We analyzed 10 studies with a total of 2391 participants. Assessment methods included exhaled CO analyzers, bidirectional SMS, data input in apps, and hand movement detection. Interventions were based on acceptance and commitment therapy and cognitive behavioral therapy. Smoking abstinence was significantly higher in participants of intervention groups compared to control groups (RR = 1.24; 95% CI 1.07-1.44, P = 0.004; I2 = 0%). CONCLUSION: Ecological momentary intervention is a novel area of research in behavioral science. The results of this systematic review based on the available literature suggest that these interventions could be beneficial for smoking cessation.