Background and Objectives: Monosyllable words are the most common speech recognition stimuli since they test auditory perception and are used to assess speech recognition. However, there is a lack of resources available for the Urdu-speaking Pakistani population. This study aims to develop and psychometrically evaluate a digitally recorded Urdu monosyllabic word list for Word Recognition Score (WRS) testing. Subjects and Methods: A total of 135 monosyllabic words were selected from a previous study. These words were digitally recorded by a native female Urdu speaker in a studio. The recordings were psychometrically assessed by 30 native Urdu speakers with normal hearing. The 100 most familiar words were selected and organized into two lists, each further divided into four halves to ensure that the words were relatively homogeneous in terms of audibility. Results: The average psychometric slope between 20% and 80% for the full list was 4.78%/dB±0.22%/dB, while it was 4.81%/dB±0.35%/dB for the half list. No statistically significant difference in p-values was observed between the full and half lists. The mean psychometric slope for 50% intelligibility was 6.04%/dB for both the full list (SD=0.44) and the half lists (SD=0.40). Conclusions Digitally recorded Urdu monosyllabic word lists are valid for assessing speech recognition in native Urdu speakers with normal hearing.

Background and Objectives: Monosyllable words are the most common speech recognition stimuli since they test auditory perception and are used to assess speech recognition. However, there is a lack of resources available for the Urdu-speaking Pakistani population. This study aims to develop and psychometrically evaluate a digitally recorded Urdu monosyllabic word list for Word Recognition Score (WRS) testing. Subjects and Methods: A total of 135 monosyllabic words were selected from a previous study. These words were digitally recorded by a native female Urdu speaker in a studio. The recordings were psychometrically assessed by 30 native Urdu speakers with normal hearing. The 100 most familiar words were selected and organized into two lists, each further divided into four halves to ensure that the words were relatively homogeneous in terms of audibility. Results: The average psychometric slope between 20% and 80% for the full list was 4.78%/dB±0.22%/dB, while it was 4.81%/dB±0.35%/dB for the half list. No statistically significant difference in p-values was observed between the full and half lists. The mean psychometric slope for 50% intelligibility was 6.04%/dB for both the full list (SD=0.44) and the half lists (SD=0.40). Conclusions Digitally recorded Urdu monosyllabic word lists are valid for assessing speech recognition in native Urdu speakers with normal hearing.

Background and Objectives: Monosyllable words are the most common speech recognition stimuli since they test auditory perception and are used to assess speech recognition. However, there is a lack of resources available for the Urdu-speaking Pakistani population. This study aims to develop and psychometrically evaluate a digitally recorded Urdu monosyllabic word list for Word Recognition Score (WRS) testing. Subjects and Methods: A total of 135 monosyllabic words were selected from a previous study. These words were digitally recorded by a native female Urdu speaker in a studio. The recordings were psychometrically assessed by 30 native Urdu speakers with normal hearing. The 100 most familiar words were selected and organized into two lists, each further divided into four halves to ensure that the words were relatively homogeneous in terms of audibility. Results: The average psychometric slope between 20% and 80% for the full list was 4.78%/dB±0.22%/dB, while it was 4.81%/dB±0.35%/dB for the half list. No statistically significant difference in p-values was observed between the full and half lists. The mean psychometric slope for 50% intelligibility was 6.04%/dB for both the full list (SD=0.44) and the half lists (SD=0.40). Conclusions Digitally recorded Urdu monosyllabic word lists are valid for assessing speech recognition in native Urdu speakers with normal hearing.

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.
Humans ; Male ; Consanguinity ; Pakistan ; Infertility, Male/metabolism* ; Semen/metabolism* ; Sperm Tail/metabolism* ; Spermatozoa/metabolism* ; Flagella/pathology* ; Mutation

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.
Asthenozoospermia/pathology* ; Dyneins/genetics* ; Homozygote ; Humans ; Male ; Microtubule-Associated Proteins ; Mutation ; Mutation, Missense ; Sperm Tail/metabolism*

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
Adolescent ; Adult ; Humans ; Infertility, Male/epidemiology* ; Loss of Function Mutation/genetics* ; Male ; Microtubule Proteins/genetics* ; Middle Aged ; Pakistan/epidemiology* ; Sperm Tail/physiology*

Objective: To carry out the genetic characterization and evolutionary analysis of three avian orthoavulavirus 1 (AOAV-1) isolates from poultry workers with respiratory symptoms. Methods: Using Illumina MiSeq, whole-genome sequencing was carried out to assess the evolutionary dynamics of three AOAV-1 isolates. A phylogenetic and comparative analysis of all coding genes was done using bioinformatics tools. Results: Phylogenetic analysis and genetic distance estimation suggested a close relationship among human- and avian-originated velogenic strains of genotype XIII, sub-genotype XIII.2.1. Several substitutions in the significant structural and biological motifs were exclusively identified in the human-originated strains. Conclusions: To our knowledge, this is the first report of a velogenic AOAV-1 isolate from natural infection of the human upper respiratory tract. Our findings highlight the evolution and zoonotic potential of velogenic AOAV-1 in a disease endemic setting.

Animals ; Brain ; embryology ; Ear ; embryology ; Esophagus ; embryology ; Fallopian Tubes ; embryology ; Female ; Heart ; embryology ; Humans ; Kidney ; embryology ; Liver ; embryology ; Lung ; embryology ; Male ; Organogenesis ; physiology ; Penis ; embryology ; Rabbits ; Stomach ; embryology ; Vagina ; embryology

Dengue fever is one of the major health problems in tropical and subtropical areas throughout the world. The causative agent of dengue fever is the dengue virus which is an enveloped single stranded RNA virus belongs to the family Flaviviridae and has five distinct serotypes (DENV-1, DENV-2, DENV-3, DENV-4 and DENV-5). Dengue virus is transmitted to human via bite of Aedes aegypti and Aedes albopictus mosquitoes. The clinical symptoms of dengue fever ranging from mild to severe form as dengue hemorrhagic fever and dengue shock syndrome. Pakistan is dengue endemic since 1994 but from 2006, Pakistan faced the worst condition regarding dengue in which thousands of people affected by the disease and hundreds of people lost their lives. DENV-2, DENV-3 and DENV-1 are the prevalent serotypes in Pakistan. Common diagnostic techniques are being used in Pakistan such as enzyme-linked immunosorbent assay, polymerase chain reaction and rapid diagnostic tests, while differential diagnosis, limitations of diagnostic methods and poor health care system are the real challenges in dengue diagnosis. Favorable climatic conditions, unplanned urbanization, travelling etc., are major factors responsible for dengue epidemics in Pakistan. This presentation provides update about dengue circumstances in Pakistan and also describes the way how to improve dengue situation in Pakistan.

Astroblastoma is an uncommon glial tumor with predominant manifestation in the young age. Herein, we report a case of 18-year-old astroblastoma female patient who presented with history of two months headache. Magnetic resonance imaging (MRI) of the brain demonstrated well circumscribed, intra-axial abnormal signal intensity lesion (size=5×4 cm²) in the right parieto-occipital region of the brain. The patient underwent complete surgical resection of the gross tumor, as confirmed by an early post-surgical MRI (i.e., within 24 hours of surgery). Histopathological examination revealed neoplastic lesion exhibiting perivascular pseudo-rosettes with centrally hyalinized blood vessel and focal nuclear pleomorphism. Immunohistochemistry staining illustrated reactivity for glial fibrillary acidic protein and integrase interactor 1 (INI-1). These features rendered the diagnosis of astroblastoma. A comprehensive review of the current literature to summarize the clinicopathological and radiological characteristics, prognostic factors and current treatment strategies of astroblastomas is also presented. Our study would expand the pool of this uncommon tumor towards its better understanding and optimal treatment.
Adolescent ; Blood Vessels ; Brain ; Brain Neoplasms ; Craniotomy ; Diagnosis ; Female* ; Glial Fibrillary Acidic Protein ; Headache ; Humans ; Hyalin ; Immunohistochemistry ; Integrases ; Magnetic Resonance Imaging ; Neoplasms, Neuroepithelial*