Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals. Spermatozoa from affected individuals exhibited typical MMAF characteristics, including coiled, bent, short, absent, and irregular flagella. Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella. Immunofluorescence staining confirmed the absence of AK7 protein from the patients' spermatozoa, validating the pathogenic nature of the mutation. This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans, expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility.
Humans ; Male ; Sperm Tail/ultrastructure* ; Homozygote ; Consanguinity ; Asthenozoospermia/pathology* ; Infertility, Male/genetics* ; Mutation ; Pakistan ; Adenylate Kinase/genetics* ; Adult ; Pedigree ; RNA Splicing ; Exome Sequencing ; Spermatozoa

Multiple morphological abnormalities of sperm flagella (MMAF) is a severe form of asthenoteratozoospermia, characterized by morphological abnormalities and reduced motility of sperm, causing male infertility. Although approximately 60% of MMAF cases can be explained genetically, the etiology of the remaining cases is unclear. Here, we identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 ( DNAH10 ), in three patients from two unrelated Pakistani families using whole-exome sequencing (WES), including one compound heterozygous mutation ( DNAH10 : c.9409C>A [p.P3137T]; c.12946G>C [p.D4316H]) in family 1 and another compound heterozygous mutation ( DNAH10 : c.8849G>A [p.G2950D]; c.11509C>T [p.R3687W]) in family 2. All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools. Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance. Hematoxylin and eosin (H&E) staining revealed MMAF, including sperm head abnormalities, in the patients. In addition, immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella. These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype.
Adult ; Humans ; Male ; Alleles ; Asthenozoospermia/pathology* ; Axonemal Dyneins/genetics* ; Dyneins/genetics* ; Exome Sequencing ; Infertility, Male/pathology* ; Mutation ; Pakistan ; Pedigree ; Sperm Tail/pathology*

Gastroesophageal reflux disease (GERD) is a common digestive disorder that affects millions of people worldwide. Reflux of gastric acid may cause oral acidification that can induce teeth demineralization. Destruction of dental hard tissue by acid reflux necessitates a combine approach involving medical and dental profession. This pilot study aims to assess associationbetween enamel erosion and GERD, and estimate prevalence of enamel erosion among GERD patients. A total of 22 patients (GERD and control) were involved in this case-control study. Dental charting was done using five-point ordinal scales of modified Tooth Wear Evaluation System (TWES 2.0). Cohen’s Kappa Coefficient was used for assessment of intra-rater and inter-rater reliability. Fisher’s Exact Test was used to determine association between enamel erosion and GERD, reflecting prevalence. Out of 11 GERD patients, 63.6% exhibit enamel erosion, whereas only 9.1% ofcontrol patient presented with enamel erosion. Fisher’s Exact Test showed a significant prevalence of enamel erosion in GERD patients (p=0.024).This study showeda clear association between enamelerosion and GERD, and it can be considered as an oral manifestation in patient with GERD. Future study involving large sample size is recommended to show clear statistical evidence ofassociation betweenenamel erosion and GERD.

One of the possible causes of chronic constipation is colonic duplication. Although seldom asymptomatic, its diagnosis is important due to the risk of malignancy that it carries. We present a case of a young female patient with long-standing constipation who was referred to Kolorektal Cerrahi Clinic (Izmir, Turkey) after scans revealed tubular type of colonic duplication. We successfully performed a laparoscopic total colectomy, and she recovered well. Identifying the type of duplication is important to ensure adequate resection and treatment. A proper workup, including carcinoembryonic antigen levels, must be done as well. Multiple surgical techniques and procedures have been introduced for this condition, but resection of the duplicated colon with its native lumen should be the management of choice, especially in tubular type of duplications such as in our case. In centers where laparoscopic services are available, laparoscopy could be a better option, as it provides multiple benefits of minimally invasive surgery. Attention should also be paid to anatomical details during surgery to ensure better results and outcomes.

Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein (SPOP) on chromosome 17q21. In this report, we present a four-year-old girl who had microcephaly, a long face, a wide and thick arched eyebrow, widely spaced eyes, a prominent and wide nasal bridge, a wide and bulbous nasal tip, micrognathia and pointed chin. She also had microcytic hypochromic anemia. Her clinical features are suspected of NSDVS1 and thalassemia along with refractory iron deficiency anemia. Genetic evaluation confirmed the presence of both SPOP and hemoglobin gene mutations. The concurrence of both genetic mutations and above hematological manifestations has not been reported previously thus further studies are needed to better understand the associated mechanisms and disease course involved.

Introduction: The gingival phenotype (GP) of teeth at the aesthetic zone often influences dental rehabilitation plans and treatment outcomes. This study aimed to assess the prevalence of GP in the Malay population in relation to gender and age. Methods: The GP of 100 patients were determined using the Probe test method. Other clinical parameters were assessed include crown width/crown length (CW/CL) ratio, tooth morphology and width of keratinised tissue. Periodontal parameters were assessed by two calibrated examiners. Data were analysed using descriptive statistics, one-way ANOVA and Kruskal-Wallis test. Results: A higher prevalence of thick GP was found at the maxilla for both genders, whereas a thin phenotype was observed at the mandible. At maxilla, both thick and thin GP were found in all age groups, while the mandible showed a higher prevalence of thin GP. Significant differences in GP were found between males and females for mandibular and maxillary anterior teeth and the mandibular lateral incisor (p<0.05), while no significant difference was found for other parameters assessed; age group, CW/CL, tooth morphology and WKT. Conclusion: Thicker GP is more prevalent in male population and at maxillary anterior. Mandibular anterior GP presented commonly with a thin GP regardless of gender or age-group.

Purpose: We investigated research barriers among Jordanian medical postgraduates to understand the current context of the local health research landscape and improve scholarly output. Methods: Using a validated questionnaire, Jordanian interns, residents, specialists, and consultants were examined for their perceived attitudes and barriers towards research. Participants were conveniently sampled from public, university, military, and private institutions. Differences in responses were examined using the Student t-test and analysis of variance. Binary logistic regression was utilized to examine predictors of being able to publish. Results: A total of 1,141 Jordanian medical postgraduates were recruited, of which 61.3% were junior postgraduates (i.e., interns and residents in their first 2 years of residency) while 38.7% were senior postgraduates (i.e., senior residents, specialists, and consultants). Around 76.0% of participants had no peer-reviewed publications. Of those with least one publication (n=273), only 31.1% had first authorships. Participants portrayed dominantly positive attitudes towards the importance of research. There were no significant differences between junior and senior postgraduates for overall attitudes (p=0.486) and knowledge barriers scores (p=0.0261). Conversely, senior postgraduates demonstrated higher mean organizational barriers (p<0.001). Seniority (odds ratio [OR], 5.268; 95% confidence interval [CI], 3.341–8.307), age (OR, 1.087; 95% CI, 1.019–1.159), academic standing (OR, 1.730; 95% CI, 1.103–2.715), and confidence (OR, 1.086; 95% CI, 1.009–1.169) were positive predictors of publication in peer reviewed journals. Conclusion The Jordanian medical research landscape is riddled with all forms of different barriers. The reworking of current and integration of new research training programs are of utmost importance.

Objective: In the present study the empathy-altruism hypothesis was studied. According to empathy-altruism hypothesis, altruistic acts stimulated by empathy, are directed to improve another person's welfare. Purpose of this study was to investigate the relationship of the emotional empathy and altruism and to determine the predictive power of emotional empathy for altruism among health professionals. Methods: Correlational and cross-sectional research designs were used for the present study. Sample size was estimated through G*power and 200 health professionals (100 MBBS and 100 BDS) were taken from different government and private hospitals and health institutes through purposive sampling technique. Age range of participants was 24-35 years (M=31.45, SD=3.39). Bio data form, Multidimensional Emotional Empathy Scale and Helping attitude scale were used to get demographic information and to assess the emotional empathy and altruistic behaviour respectively of health professionals. Data were analysed by using SPSS 23. Results: Results of the present study showed strong and positive relationship between emotional empathy and altruism among health professionals. Hierarchical regression analysis was run to find the predictive power of emotional empathy for altruistic behaviour of the health professionals. After controlling age, gender, level of education and marital status, emotional empathy emerged as the strong predictor for altruistic behaviour among health professional. Emotional empathy accounted 31.3 % variance for altruistic behaviour. This study can create awareness about the role of health professionals and their behaviour towards patients. Health professional’s emotional empathy is the compulsory factors for defining their attitude towards their patients. Conclusion Emotional empathy plays an important role in the altruistic attributes of health professionals. Some training programs must be arranged to enhance their emotional empathy

Introduction: Precise pupillometry is crucial to determine ablation optical zone (OZ) size selection in LASIK. Significant difference in the selection induces unwanted postoperative night visual disturbance. Placido-disc topographer and Hartmann-Shack aberrometer are commonly used in LASIK preoperative assessment. However, little is known on the precision and agreement of these devices in pupillometry. Hence, this study aimed to evaluate the precision (repeatability and reproducibility) and inter-device agreement of a Placido-disc topographer and Hartmann-Shack aberrometer in measuring mesopic pupil size in pre-LASIK patients. Methods: Mesopic pupillometry on 38 pre-LASIK patients were performed using both devices by two masked operators, on two separate sessions. Intra-session repeatability, inter-operator reproducibility and inter-device agreement were analysed. A disagreement value of ±0.5 mm and 95% limits of agreement (LoA) were determined. Results: Hartmann-Shack aberrometer demonstrated higher repeatability and reproducibility than Placido-disc topographer in mesopic pupillometry. Ninety-seven percent and all of Hartmann-Shack wavefront aberrometer pupillometry were within ±0.5 mm in repeated sessions and between the operators, respectively. The mesopic pupil size obtained from Placido-disc topographer was significantly larger than Hartmann-Shack aberrometer results (P = 0.02). The agreement between devices was low (LoA > ±1 mm) and only 53% of Placido-disc topographer pupillometry were within ±0.5 mm of Hartmann-Shack aberrometer pupillometry. Conclusion: Hartmann-Shack aberrometer has higher precision within sessions and between operators, and it provides smaller mesopic pupillometry than Placido-disc topographer. Precise mesopic pupillometry could assist refractive surgeons in choosing a correct ablation OZ size during LASIK surgery to improve postoperative outcome.

Background and objective: Coronavirus Disease 2019 (COVID19) was first reported in Malaysia in March 2020. We describe here the clinical characteristics and computed tomography (CT) patterns in asymptomatic young patients who had laboratory-confirmed COVID-19. Methods: This is a retrospective observational study where 25 male in-patients with laboratory-confirmed COVID-19 in Hospital Canselor Tuanku Muhriz. Demographics, clinical data and CT images of these patients were reviewed by 2 senior radiologists. Results: In total there were 25 patients (all males; mean age [±SD], 21.64±2.40 years; range, 18-27 years). Patients with abnormal chest CT showed a relatively low normal absolute lymphocytes count (median: 2.2 x 109/L) and absolute monocyte count (median: 0.5 x 109/L). Lactate dehydrogenase was elevated in 5 (20%) of the patients. The procalcitonin level was normal while elevated levels of alanine aminotransferase, total bilirubin, platelet and C-reactive protein were common. Baseline chest CT showed abnormalities in 6 patients. The distribution of the lesions were; upper lobe 3 (12%) lower lobe 3 (12%) with peripheral distribution 4 (16%). Of the 25 patients included, 4 (16%) had ground glass opacification (GGO), 1 (4%) had a small peripheral subpleural nodule, and 1 (4%) had a dense solitary granuloma. Four patients had typical CT features of COVID-19. Conclusion: We found that the CT imaging showed peripheral GGO in our patients. They remained clinically stable with no deterioration of their respiratory symptoms suggesting stability in lung involvement. We postulate that rapid changes in CT imaging may not be present in young, asymptomatic, non-smoking COVID-19 patients. Thus the use of CT thorax for early diagnosis may be reserved for patients in the older age groups, and not in younger patients.