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Clinical Kidney Journal Jun 2024The aim of this work was to create and evaluate a preoperative non-contrast-enhanced (CE) magnetic resonance imaging (MRI)/angiography (MRA) protocol to assess renal...
BACKGROUND
The aim of this work was to create and evaluate a preoperative non-contrast-enhanced (CE) magnetic resonance imaging (MRI)/angiography (MRA) protocol to assess renal function and visualize renal arteries and any abnormalities in potential living kidney donors.
METHODS
In total, 28 subjects were examined using scintigraphy to determine renal function. In addition, 3D-pseudocontinuous arterial spin labeling (pCASL), a 2D-non-CE electrocardiogram-triggered radial quiescent interval slice-selective (QISS-MRA), and 4D-CE time-resolved angiography with interleaved stochastic trajectories (CE-MRA) were performed to assess renal perfusion, visualize renal arteries and detect any abnormalities. Two glomerular filtration rates [described by Gates (GFR) and according to the Chronic Kidney Disease Epidemiology Collaboration formula (GFR)]. The renal volumes were determined using both MRA techniques.
RESULTS
The mean value of regional renal blood flow (rRBF) on the right side was significantly higher than that on the left. The agreements between QISS-MRA and CE-MRA concerning the assessment of absence or presence of an aberrant artery and renal arterial stenosis were perfect. The mean renal volumes measured in the right kidney with QISS-MRA were lower than the corresponding values of CE-MRA. In contrast, the mean renal volumes measured in the left kidney with both MRA techniques were similar. The correlation between the GFR and rRBF was compared in the same manner as that between GFR and rRBF.
CONCLUSION
The combination of pCASL and QISS-MRA constitute a reliable preoperative protocol with a total measurement time of <10 min without the potential side effects of gadolinium-based contrast agents or radiation exposure.
PubMed: 38915436
DOI: 10.1093/ckj/sfae101 -
Health Science Reports Jun 2024Despite advancements in the management of patients with sickle cell disease (SCD), the involvement of the cardiovascular system in these patients remains a significant...
BACKGROUND
Despite advancements in the management of patients with sickle cell disease (SCD), the involvement of the cardiovascular system in these patients remains a significant concern. Cardiovascular manifestations of SCD are well-documented, with electrocardiography (ECG) serving as a valuable diagnostic tool. Studies have reported a high rate of critical ECG findings in patients with SCD that warrants consideration when managing these patients, indicating the need for proactive cardiac screening and management strategies in this patient population. This study aims to systematically review the literature to identify sociodemographic, clinical, and paraclinical factors associated with ECG abnormalities in patients with SCD.
METHODS
A comprehensive search strategy will be employed across multiple online databases, including PubMed, Embase, Scopus, Web of Science, and Google Scholar, for published and gray literature. Eligible studies will include original articles reporting associations between sociodemographic, clinical, and paraclinical variables and a spectrum of ECG findings in patients with SCD. Independent reviewers will conduct the screening, quality assessment, and data extraction. Quantitative analyses will be performed under a random-effect model using Comprehensive Meta-Analysis software, with subgroup analyses based on SCD status, sickle hemoglobinopathy form, and age group.
PubMed: 38915361
DOI: 10.1002/hsr2.2212 -
Journal of Nutrition and Metabolism 2024Abnormal glucose and lipid metabolism (GALM) serve as both a cause and an inducer for the development of the disease. Improvement and treatment of GALM are an important... (Review)
Review
BACKGROUND
Abnormal glucose and lipid metabolism (GALM) serve as both a cause and an inducer for the development of the disease. Improvement and treatment of GALM are an important stage to prevent the occurrence and development of the disease. However, current clinical treatment for GALM is limited. Ellagic acid (EA), a common polyphenol present in foods, has been shown to improve abnormalities in GALM observed in patients suffering from metabolic diseases.
OBJECTIVE
This study used a meta-analysis method to systematically assess the effects of EA on GALM.
METHOD
As of November 8, 2023, a comprehensive search was conducted across 5 databases, namely, PubMed, Embase, Web of Science, Cochrane Library, and Google Scholar to identify randomized controlled trials (RCTs) in which EA served as the primary intervention for diseases related to GALM. The risk of bias within the included studies was assessed according to the Cochrane Handbook. All statistical analyzes were performed using RevMan 5.4 software.
RESULTS
In this study, a total of 482 articles were retrieved, resulting in the inclusion of 10 RCTs in the meta-analysis. The results showed that EA could reduce fasting blood glucose (FBG) ( = 0.008), increase insulin secretion ( = 0.01), improve insulin resistance index (HOMA-IR) ( = 0.003), decrease triglyceride (TG) ( = 0.004), and reduce cholesterol (Chol) ( = 0.04) and low-density lipoprotein (LDL-c) ( = 0.0004). EA had no significant effect on waist circumference (WC), body weight (BW), body mass index (BMI), 2 hours after prandial blood glucose (2 h-PG), total cholesterol (TC), and high-density lipoprotein (HDL-c).
CONCLUSIONS
The effect of improvement in glucose and lipids of EA was closely related to the dose and the intervention time. EA can improve GALM caused by diseases. To corroborate the findings of this study and improve the reliability of the results, EA is imperative to refine the research methodology and increase the sample size in future investigations.
PubMed: 38915316
DOI: 10.1155/2024/5558665 -
Journal of Neuroengineering and... Jun 2024Impaired ankle proprioception strongly predicts balance dysfunction in chronic stroke. However, only sparse data on ankle position sense and no systematic data on ankle...
BACKGROUND
Impaired ankle proprioception strongly predicts balance dysfunction in chronic stroke. However, only sparse data on ankle position sense and no systematic data on ankle motion sense dysfunction in stroke are available. Moreover, the lesion sites underlying impaired ankle proprioception have not been comprehensively delineated. Using robotic technology, this study quantified ankle proprioceptive deficits post-stroke and determined the associated brain lesions.
METHODS
Twelve adults with chronic stroke and 13 neurotypical adults participated. A robot passively plantarflexed a participant's ankle to two distinct positions or at two distinct velocities. Participants subsequently indicated which of the two movements was further/faster. Based on the stimulus-response data, psychometric just-noticeable-difference (JND) thresholds and intervals of uncertainty (IU) were derived as measures on proprioceptive bias and precision. To determine group differences, Welch's t-test and the Wilcoxon-Mann-Whitney test were performed for the JND threshold and IU, respectively. Voxel-based lesion subtraction analysis identified the brain lesions associated with observed proprioceptive deficits in adults with stroke.
RESULTS
83% of adults with stroke exhibited abnormalities in either position or motion sense, or both. JND and IU measures were significantly elevated compared to the control group (Position sense: + 77% in JND, + 148% in IU; Motion sense: +153% in JND, + 78% in IU). Adults with stroke with both impaired ankle position and motion sense had lesions in the parietal, frontal, and temporoparietal regions.
CONCLUSIONS
This is the first study to document the magnitude and frequency of ankle position and motion sense impairment in adults with chronic stroke. Proprioceptive dysfunction was characterized by elevated JND thresholds and increased uncertainty in perceiving ankle position/motion. Furthermore, the associated cortical lesions for impairment in both proprioceptive senses were largely overlapping.
Topics: Humans; Male; Robotics; Proprioception; Female; Middle Aged; Stroke; Ankle; Aged; Adult; Chronic Disease; Brain; Stroke Rehabilitation
PubMed: 38915064
DOI: 10.1186/s12984-024-01396-9 -
Italian Journal of Pediatrics Jun 2024Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous...
BACKGROUND
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation.
METHODS
In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.
RESULTS
We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.
CONCLUSIONS
Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.
Topics: Humans; Transcription Factors; Abnormalities, Multiple; Anus, Imperforate; Female; Male; Pedigree; China; Mutation; Rare Diseases; Anorectal Malformations; Asian People; East Asian People; Hearing Loss, Sensorineural; Thumb
PubMed: 38915054
DOI: 10.1186/s13052-024-01691-0 -
Journal of Medical Case Reports Jun 2024Mature cystic teratomas (MCT) of the ovary are benign ovarian germ cell neoplasms. Malignant transformation is possible but rare and ovarian carcinoid tumors in MCT are...
BACKGROUND
Mature cystic teratomas (MCT) of the ovary are benign ovarian germ cell neoplasms. Malignant transformation is possible but rare and ovarian carcinoid tumors in MCT are among the most extremely rare subtypes.
CASE PRESENTATION
We report a case of a 60-year-old Iranian woman suffering from postmenopausal bleeding and hypogastric pain for the last 40 days. An adnexal mass was detected during the physical examination. Ultrasound imaging showed a (55 × 58) mm mass in the left ovary. Total abdominal hysterectomy, bilateral salpingooophorectomy and comprehensive staging surgery were performed for the patient. Intraoperative frozen section of the left ovarian mass was indicative of a malignant tumor. She was diagnosed with a carcinoid tumor with benign mucinous cystadenoma arising on MCT of the ovary, confirmed in the histopathology and immunohistochemistry examination. The tumor was classified as low grade and no chemotherapy cycles were considered. The patient was followed up long-term and no recurrence was observed during 14 months of examinations.
CONCLUSION
Ovarian carcinoids arising from MCT are rare neuroendocrine neoplasms, and proper diagnosis of these tumors requires careful histopathology evaluation and appropriate examination. Therefore, it is necessary to consider these tumors as a possible differential diagnosis and evaluate them in individuals (especially postmenopausal women) who have abdominal pain or abnormal bleeding and a palpable mass.
Topics: Humans; Female; Ovarian Neoplasms; Middle Aged; Carcinoid Tumor; Teratoma; Cystadenoma, Mucinous; Salpingo-oophorectomy; Hysterectomy; Treatment Outcome; Ultrasonography
PubMed: 38915051
DOI: 10.1186/s13256-024-04603-2 -
BMC Medical Genomics Jun 2024Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30...
BACKGROUND
Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70-80% of those with the condition are still unable to receive a genetic diagnosis.
METHODS
A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our hospital, and data on clinical features, laboratory tests, and electrophysiological tests were collected. To identify the disease-causing mutation, we conducted whole exome sequencing (WES) and then validated it through Sanger sequencing for the proband and his parents. Silico analysis was performed to predict the pathogenesis of the identified mutations. A literature review of all reported mutations of the related gene for the disease was performed.
RESULTS
The patient presented with dHMN phenotype harboring a novel homozygous variant c.361G > C (p.Ala121Pro) in SORD, inherited from his parents, respectively. A121 is a highly conserved site and the mutation was categorized as "likely pathogenic" according to the criteria and guidelines of the American College of Medical Genetics and Genomics (ACMG). A total of 13 published articles including 101 patients reported 18 SORD variants. Almost all described cases have the homozygous deletion variant c.757delG (p.A253Qfs*27) or compound heterozygous state of a combination of c.757delG (p.A253Qfs*27) with another variant. The variant c.361G > C (p.Ala121Pro) detected in our patient was the second homozygous variant in SORD-associated hereditary neuropathy.
CONCLUSION
One novel homozygous variant c.361G > C (p.Ala121Pro) in SORD was identified in a Chinese patient with dHMN phenotype, which expands the mutation spectrum of SORD-associated hereditary neuropathy and underscores the significance of screening for SORD variants in patients with undiagnosed hereditary neuropathy patients.
Topics: Humans; Male; Adult; Mutation; Exome Sequencing; Hereditary Sensory and Motor Neuropathy; Pedigree; Phenotype
PubMed: 38915017
DOI: 10.1186/s12920-024-01940-5 -
BMC Surgery Jun 2024Matrix metalloproteinase-7 (MMP-7) is associated with biliary injury. This study aimed to evaluate the relationships of serum MMP-7 with clinical characteristics in...
BACKGROUND
Matrix metalloproteinase-7 (MMP-7) is associated with biliary injury. This study aimed to evaluate the relationships of serum MMP-7 with clinical characteristics in choledochal cysts (CDC) children.
METHODS
Between June 2020 and July 2022, we conducted a prospective study of CDCs who underwent one-stage definitive operation at our center. Serum MMP-7 was measured using an enzyme-linked immunosorbent assay. We evaluated the relationships between serum MMP-7 and age, laboratory tests, imaging examinations, liver fibrosis, MMP-7 expression, and perforation.
RESULTS
A total of 328 CDCs were enrolled in the study, with a median serum MMP-7 of 7.67 ng/mL. Higher serum MMP-7 was correlated with younger age at diagnosis (p < 0.001), larger cyst sizes (p < 0.001), higher liver fibrosis stages (p < 0.001), and higher incidence of perforation (p < 0.01). Liver MMP-7 was mainly expressed in intrahepatic and extrahepatic biliary epithelial cells. The area under the receiver operating characteristic curve (AUROC) was 0.630 (p < 0.001) for serum MMP-7 in predicting perforation. When serum MMP-7 was combined with γ-glutamyl transferase (GGT), the AUROC increased to 0.706 (p < 0.001).
CONCLUSIONS
Serum MMP-7 was associated with biliary obstruction in CDCs. Patients with high serum MMP-7 were more likely to have severe liver damage and biliary injury, with higher incidences of liver fibrosis and perforation.
Topics: Humans; Choledochal Cyst; Matrix Metalloproteinase 7; Male; Female; Child, Preschool; Prospective Studies; Infant; Child; Biomarkers; gamma-Glutamyltransferase; Liver Cirrhosis
PubMed: 38914992
DOI: 10.1186/s12893-024-02488-y -
Analysis of clinical characteristics of different types of lung function impaiement in TDL patients.BMC Pulmonary Medicine Jun 2024The clinical characteristics associated with pulmonary function decline in patients with Tuberculosis-destroyed lung (TDL) remain uncertain. We categorize them based on...
AIM
The clinical characteristics associated with pulmonary function decline in patients with Tuberculosis-destroyed lung (TDL) remain uncertain. We categorize them based on the pattern of pulmonary function impairment, distinguishing between restrictive spirometric pattern (RSP) and obstructive spirometric pattern (OSP). We aim to compare the severity of these patterns with the clinical characteristics of TDL patients and analyze their correlation.
METHOD
We conducted a retrospective analysis on the clinical data of TDL patients who underwent consecutive pulmonary function tests (PFT) from November 2002 to February 2023. We used the lower limit formula for normal values based on the 2012 Global Lung Function Initiative. We compared the clinical characteristics of RSP patients with those of OSP patients. The characteristics of RSP patients were analyzed using the tertiles of forced vital capacity percentage predicted (FVC% pred) decline based on PFT measurements, and the characteristics of OSP patients were analyzed using the tertiles of forced expiratory volume in 1 s percentage predicted (FEV% pred) decline.
RESULT
Among the RSP patients, those in the Tertile1 group (with lower FVC% pred) were more likely to have a higher of body mass index (BMI), spinal deformities, and C-reactive protein (CRP) compared to the other two groups (P for trend < 0.001, 0.027, and 0.013, respectively). Among OSP patients, those in the Tertile1 group (with lower FEV% pred) showed an increasing trend in cough symptoms and contralateral lung infection compared to the Tertile 2-3 group (P for trend 0.036 and 0.009, respectively).
CONCLUSION
For TDL patients, we observed that Patients with high BMI, a higher proportion of spinal scoliosis, and abnormal elevation of CRP levels were more likely to have reduced FVC. Patients with decreased FEV% pred have more frequent cough symptoms and a higher proportion of lung infections on the affected side.
Topics: Humans; Male; Female; Retrospective Studies; Middle Aged; Vital Capacity; Forced Expiratory Volume; Adult; Lung; Spirometry; Aged; Tuberculosis, Pulmonary; Respiratory Function Tests; C-Reactive Protein; Body Mass Index
PubMed: 38914991
DOI: 10.1186/s12890-024-03115-5 -
BMC Oral Health Jun 2024This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and...
BACKGROUND
This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence.
METHODS
This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records.
RESULTS
Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants' parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36-14.92), gender (OR 2.01 95% CI 1.13-3.59), marital status of parents (OR 2.62 95% CI 1.07-6.42), and MB (OR 3.26 95% CI 1.86-5.71).
CONCLUSIONS
According to the study's findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents.
Topics: Humans; Female; Adolescent; Male; Turkey; Cross-Sectional Studies; Temporomandibular Joint Disorders; Child; Mouth Breathing; Risk Factors; Prevalence; Bruxism; Malocclusion; Facial Pain; Hypersensitivity
PubMed: 38914975
DOI: 10.1186/s12903-024-04482-5