Head lice infestation (Pediculus humanus capitis) prevalence and its associated factors, among the kormanj tribes in North Khorasan Province

Background: Human pediculosis is an important factor in assessing the level of public health and personal hygiene. Objectives: The aim of this study was to determine the prevalence of pediculosis (head lice infestation) and the factors affecting the rate of infestation. Methods: A cross-sectional study design was used to conduct the study among the Kormanj tribes in North Khorasan province, northeastern Iran. The study was conducted between April to June of 2016. A total of 867 subjects were selected randomly and an interviewer questionnaire was used on each subject to sort for information on demographic profile and factors associated with rate of infestation to pediculosis. Results: Data was statistically analyzed using Excel 2015 and SPSS Statistics 24 software; t-test and Chi-square tests were used to check for any statistical significant association between the variables. A total of 28 cases (3.2) were found to be infected with head lice, 10 cases (35.7) out of the 3.2 prevalence had a history of infestation with head lice in the past while the remaining 18 cases (64.3) had no history of lice infestation in the past. Significant statistical association was observed between the sex and history of head lice infestation (P < 0.05). There was no significant difference between lice infestation and the level of education of the subjects, family size, sharing of personal belongings, length of hair, hair posture, showering frequency, the frequency of brushing hair, and permanent scarf coverings at home. Conclusions: The pediculosis is one of the main public health problems in nomadic tribes such as Kormanj tribes in North Khorasan province. It seems that improvement of personal health conditions in females and also appropriate treatment in previous infestations for nomadic tribes could significantly reduce the prevalence of human head lice infestation. © 2018, Author(s)

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected on at least one allele. Common manifestations included lung or muscle fibrosis, respiratory distress, developmental delay, neuromuscular symptoms and seizures often followed by early death due to rapid disease progression.Here, we present 15 individuals from 12 families with an overlapping phenotype associated with nine novel NHLRC2 variants identified by exome analysis. All patients described here presented with moderate to severe global developmental delay and variable disease progression. Seizures, truncal hypotonia and movement disorders were frequently observed. Notably, we also present the first eight cases in which the recurrent p.(Asp148Tyr) variant was not detected in either homozygous or compound heterozygous state.We cloned and expressed all novel and most previously published non-truncating variants in HEK293-cells. From the results of these functional studies, we propose a potential genotype-phenotype correlation, with a greater reduction in protein expression being associated with a more severe phenotype.Taken together, our findings broaden the known phenotypic and molecular spectrum and emphasize that NHLRC2-related disease should be considered in patients presenting with intellectual disability, movement disorders, neuroregression and epilepsy with or without pulmonary involvement

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder. METHODS: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature. RESULTS: The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss. CONCLUSION: This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities

Laboratory colonization of Lucilia sericata Meigen (Diptera: Caliphoridae) strain from Hashtgerd, Iran

ABSTRACT Background &amp; objectives: The treatment of wounds with live green bottle fly larvae is receiving considerable attention in many countries. Laboratory rearing of Lucilia sericata is crucially important for the treatment of wounds

Laboratory colonization of Lucilia sericata Meigen (Diptera: Caliphoridae) strain from Hashtgerd, Iran

Background & objectives: The treatment of wounds with live green bottle fly larvae is receiving considerableattention in many countries. Laboratory rearing of Lucilia sericata is crucially important for the treatment ofwounds.Study design: The study was carried out for mass rearing of green bottle flies from April to November 2010.Hand catch and net trap baited with beef and cattle liver were used to collect adult flies from the field. Thecollected samples were placed in appropriately labeled tubes and sent to the laboratory. Adult stage flies rearedin the insectary were used for species identification using specific keys.Results: A total of 89 flies (55 females and 34 males) were collected from Hashtgerd area. In the first generation,299 flies were produced in the laboratory including 105 (35.12%) males, and 194 (64.88%) females. The female/male sex ratio was 1.61 for parents, whereas it was 1.84, 1.30 for F1 and F2 generations respectively. In total,432 flies were reared in F3 generation including 173 (40.04%) males, and 259 (59.96%) females, and the sexratio was 1.49.Conclusion: Setting up the mass rearing of sheep blowfly at the School of Public Health, Tehran University ofMedical Sciences is an important step in producing candidate flies for the treatment of myiasis by maggottherapy in future

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Purpose: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder.Methods: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature.Results: The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss.Conclusion: This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities. (c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder. METHODS: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature. RESULTS: The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss. CONCLUSION: This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities