Reliability of Ultrasonography in Measuring Deep Abdominal and Lumbar Multifidus Muscle Dimensions in Patients with Unilateral Lumbar Disc Herniation

Introduction: The purpose of this study was to assess the within-day and between-day reliability of abdominal and lumbar multifidus muscle size in patients with unilateral lumbar disc herniation (LDH) using ultrasonography (US). Materials and methods: In this study, 15 patients with unilateral LDH (20-60 years old) were recruited. To assess within-day and between-day reliability, three images were taken with one hour and one week intervals respectively. The images were taken at rest and during contraction. Results: The within-day and between-day reliability of abdominal muscle thickness measurements using US in patients with unilateral lumbar disc herniation (LDH) in both rest and contraction state was found to be high with ICC=0.87 for within and ICC=0.75 for between-day rates of transverse abdominis (TrA) muscles at rest and ICC=0.78 and 0.75, respectively, in contraction state. For internal oblique muscles, ICC=0.70 at rest and 0.79 in contraction state and ICC=0.73 at rest and 0.77 in contraction state were found for within-day and between-day, respectively. Within-day and between-day reliability at rest with ICC=0.76 and 0.76 and in contraction state with ICC=0.75 and 0.74 were demonstrated for the external oblique muscle. Within-day and between-day reliability rates at rest with ICC=0.88 and 0.84, respectively, and in contraction state with ICC=0.84 and 0.80, respectively were demonstrated for the lumbar multifidus muscle. Conclusion: The results of the present study suggest that US is a reliable method for evaluating the thickness of the abdominal and lumbar multifidus muscles. However, further research is recommended to support the findings of the present study.Keywords: Ultrasonography, disc herniation, abdominal muscles, lumbar multifidus muscle, reliabilit

Genetic linkage analysis of DFNB39 locus in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from Khuzestan province

Background and aims: Hearing loss (HL) is a most common sensory deficit in humans and approximately one in 1,000 newborns has severe-to-profound HL. About 50% of HL cases are inherited and approximately 70 percent of HL cases are Non-syndromic that about 80 percent of this type of HL is inherited in recessive manner (ARNSHL). This is a heterogeneous disease and its prevalence is higher in developing countries. In Iran due to high rate of consanguinity has high frequency, too. The purpose of the present study was to investigate genetic linkage analysis of DFNB39 locus in families with autosomal recessive nonsyndromic HL from Khuzestan province. Methods: In this descriptive laboratory study, to determine type and frequency of HGF mutations 300 individuals of 25 families from Khuzestan province with autosomal recessive nonsyndromic hearing loss were examined. Selected families in this study had consanguinity and had at least 2 patients and also they were negative for GJB2 gene mutations. Linkage analysis was performed by 6 markers STR (Short tandem repeats) which were located in or were tightly linked to DFNB39 locus conventional PCR and PAGE. Results: After examining different families, it was revealed non of the families did not show linkage to the DFNB39 locus. Lack of HGF gene mutations in mentioned family suggests that the HGF's mutations probably have no role in causing HL in the studied families. Conclusion: Based on the results of this study, DFNB39 locus may not be important role in causing hearing loss of population studied. However, further studies are necessary to determine more precisely the role of this locus in hearing loss in Iranian population

Genetic linkage analysis of the DFNB48 and DFNB98 loci in families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Khouzestan province

Background and aims: Hearing loss, a sensorineural disorder, is one of the most common congenital impairments, occurring in approximately 1 in 500 newborns. Hearing loss is a highly heterogenic disease and half of the cases of deafness are attributed to genetic causes; environmental and unknown factors account for the remainder. Non-syndromic type forms 70% of hearing loss cases. Pattern of inheritance of nearly 80% of this type of HL is recessive autosomal. Iranian population provides a valuable genetic resource to study this kind of HL because of high ratio of consanguinity. In this study, genetic linkage of DFNB48 (CIB2) and DFNB98 (TSPEAR) is investigated in families with ARNSHL impairment from Khouzestan province. Methods: In this descriptive study 300 individuals of 25 families with hearing loss were examined in order to determine type and frequency of mutation of DFNB48 and DFNB98 loci in Khouzestan province. Families' selection had some criteria. Families with healthy parents, consanguineous marriage and negative result for mutations of GJB2 gene with at least two affected individuals were selected. 3 families which were detected positive for mutations of GJB2 gene were excluded from study. Linkage analysis was done for 22 families by using six STR markers which were located in or were tightly linked to each locus. Results: None of these families inspected by linkage analysis was linked to the DFNB48 or DFNB98 loci. Conclusion: Considering these results it seems that CIB2 and TSPEAR genes mutations have not important roles in hearing loss in Khouzestan province

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran. METHODS: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. RESULTS: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. CONCLUSION: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran

Molecular Evidence of Emerged Pulmonary Lophomoniasis due to Lophomonas blattarum among Hospitalized Patients in Southwestern Iran: A National Registry-Based Study

Objectives. Lophomonas protozoan is an emerging pathogen transmitted through arthropods such as cockroaches. Lophomoniasis is still a mysterious disease with many unknown epidemiological aspects. The current study aimed to determine the prevalence of lophomoniasis among patients who were hospitalized in Hajar Hospital, Shahrekord, southwestern Iran, using a conventional PCR technique. Methods. In this retrospective study, 132 frozen bronchoalveolar lavage fluid (BALF) specimens from patients with respiratory disorders hospitalized in Hajar Hospital, Shahrekord district, southwestern Iran, were analyzed during 2020-2021. Samples are referred to the Iranian National Registry Center for Lophomoniasis (INRCL), Mazandaran Province, Northern Iran, for detecting Lophomonas spp. infection by a conventionally small subunit ribosomal RNA (SSU rRNA) PCR test. Results. A total of 132 frozen BALF specimens were examined, 36 (27.3%) tested Lophomonas spp. positive using the conventional PCR technique. Also, based on sequencing data and blast analysis, the presence of L. blattarum species was confirmed. The average age of Lophomonas spp.- positive patients was 67.02 ± 15.14 years. Out of the 36 positive subjects, 63.9% were male and 36.1% female. Male and Lophomonas infection had a significant correlation (p=0.001). Our findings revealed that L. blattarum infected nonsmokers more than smokers (p=0.001). The most common underlying disease was also bronchitis Conclusion. Our results showed, for the first time, that pulmonary lophomoniasis caused by L. blattarum is a common and emerging disease in the study area, southwestern Iran. Furthermore, our findings support the use of the PCR test to detect Lophomonas infection in archived frozen clinical sample

Genomic prediction for growth using a low-density SNP panel in dromedary camels

For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees

Genomic prediction for growth using a low-density SNP panel in dromedary camels

For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees

Keys to Unlock the Enigma of Ocular Toxocariasis: A Systematic Review and Meta-analysis

ABSTRACT Purpose: Ocular toxocariasis (OT) is a zoonotic infection caused by larval stages of Toxocara canis and T. cati. The current review and meta-analysis aimed to evaluate the global prevalence of OT. Methods: Five English (PubMed, Scopus, Science Direct, Web of Science, and Google Scholar) databases were explored and 101 articles met the inclusion criteria. Results: The pooled prevalence (95% confidence interval) of OT was higher in immunological studies (9%. 6–12%) than in studies that applied ophthalmic examination (1%. 1–2%). The lower middle-income level countries had the highest prevalence (6%. 2–12%) as well as the African region (10%. 7–13%). The highest infection rate (4%. 2–7%) was detected in the 1–25 mean age group. Conclusion: Regular anthelminthic treatment of cats and dogs, and removal of animal feces from public places must be considered. KEYWORDS Toxocariasis; ocular larva migrans; public health; humans; zoonose

Lumbar Multifidus Muscle Morphology Changes in Patient with Different Degrees of Lumbar Disc Herniation: An Ultrasonographic Study

Background and Objective: Previous studies demonstrated that the prevalence of lumbar disc herniation (LDH) is relatively high. This investigation aimed to evaluate the size of lumbar multifidus (LM) muscle in patients with different degrees of LDH compared to healthy group, during rest and contraction, using ultrasonography. Materials and Methods: In this non-experimental, analytic, and case control study, ultrasound imaging was used to assess cross-sectional area (CSA) and thickness of the LM muscle in 15 healthy subjects and 60 patients with different stages of LDH (bulging group = 15, protrusion group = 15, extrusion group = 15, sequestration group = 15). Measurements were taken bilaterally at the L4–L5 level, during rest and contraction and results were compared between groups. Results: There was a significant difference between healthy subjects and the extrusion and sequestration groups during rest and contraction for LM muscle CSA and thickness (p = 0.001), as LM muscle CSA and thickness were significantly smaller in extrusion and sequestration patient groups compared to healthy subjects. LM atrophy was greater in patients with extrusion and sequestration groups than in patients with bulging and protrusion, both at rest and during contraction. Significant correlations were also observed between functional disability and intensity of pain with LM CSA and thickness measurements. Conclusions: Patients with extrusion and sequestration LDH had smaller LM muscle at rest and during contraction compared to healthy subjects. Larger LDH lesions were associated with decreased LM muscle size. Patient with more pain, disability, and extrusion and sequestration LDH had greater LM size changes. LM muscle size was not correlated with symptom duration. Further investigation with greater sample size is warranted

Reliability and validity of an iPhone® application for the measurement of lumbar spine flexion and extension range of motion

Background Measurement of lumbar spine range of motion (ROM) is often considered to be an essential component of lumbar spine physiotherapy and orthopedic assessment. The measurement can be carried out through various instruments such as inclinometers, goniometers, and etc. Recent smartphones have been equipped with accelerometers and magnetometers, which, through specific software applications (apps) can be used for inclinometric functions. Purpose The main purpose was to investigate the reliability and validity of an iPhone® app (TiltMeter© -advanced level and inclinometer) for measuring standing lumbar spine flexion–extension ROM in asymptomatic subjects. Design A cross-sectional study was carried out. Setting This study was conducted in a physiotherapy clinic located at School of Rehabilitation Sciences, Iran University of Medical Science and Health Services, Tehran, Iran. Subjects A convenience sample of 30 asymptomatic adults (15 males; 15 females; age range = 18–55 years) was recruited between August 2015 and December 2015. Methods Following a 2–minute warm-up, the subjects were asked to stand in a relaxed position and their skin was marked at the T12–L1 and S1–S2 spinal levels. From this position, they were asked to perform maximum lumbar flexion followed by maximum lumbar extension with their knees straight. Two blinded raters each used an inclinometer and the iPhone ® app to measure lumbar spine flexion–extension ROM. A third rater read the measured angles. To calculate total lumbar spine flexion–extension ROM, the measurement from S1–S2 was subtracted from T12–L1. The second (2 hours later) and third (48 hours later) sessions were carried out in the same manner as the first session. All of the measurements were conducted 3 times and the mean value of 3 repetitions for each measurement was used for analysis. Intraclass correlation coefficient (ICC) models (3, k) and (2, k) were used to determine the intra-rater and inter-rater reliability, respectively. The Pearson correlation coefficients were used to establish concurrent validity of the iPhone® app. Furthermore, minimum detectable change at the 95% confidence level (MDC95) was computed as 1.96 × standard error of measurement × $\sqrt{2}$ 2 . Results Good to excellent intra-rater and inter-rater reliability were demonstrated for both the gravity-based inclinometer with ICC values of ≥0.84 and ≥0.77 and the iPhone® app with ICC values of ≥0.85 and ≥0.85, respectively. The MDC95 ranged from 5.82°to 8.18°for the intra-rater analysis and from 7.38°to 8.66° for the inter-rater analysis. The concurrent validity for flexion and extension between the 2 instruments was 0.85 and 0.91, respectively. Conclusions The iPhone®app possesses good to excellent intra-rater and inter-rater reliability and concurrent validity. It seems that the iPhone® app can be used for the measurement of lumbar spine flexion–extension ROM. Level of evidence IIb