Purpose: This study aimed to estimate the prevalence and predictors of portopulmonary hypertension (POPH) in children with portal hypertension. Methods: We recruited children of both sexes aged 3–15 years with portal hypertension that was clinically suspected and confirmed by the presence of varices on esophagogastroduodenoscopy (EGD). The participants underwent clinical examination, 6-min walk distance (6-MWD), and echocardiography. Results: We enrolled 94 children with portal hypertension: 26.6% with pre-hepatic causes and 73.4% secondary to chronic liver disease. Among our participants, 13.8% had one or more cardiac manifestations, such as exercise intolerance, dyspnea on exertion, cyanosis, or orthopnea, whereas 86.2% were asymptomatic. EGD examination revealed grade I varices in 54.3% of cases, grade II–III in 43.6%, and grade IV in 2.1%. Pulmonary hypertension (>35 mmHg) was detected in 30.9% of cases using echocardiography; two of them were >45 mmHg. Patients with POPH had significantly more frequent dyspnea on exertion, lower O 2 saturation, and more severe variceal grades than those with normal pulmonary artery pressure. Five (6.9%) cases had <300 m 6-MWD, with no significant difference between patients with normal and those with elevated pulmonary artery pressure. The duration of portal hypertension and 6-MWD were correlated significantly with the echocardiographic measures. High-grade varices (p=0.04) and low O 2 saturation (p=0.03) were identified as risk factors for POPH. Conclusion POPH was detected in 30.9% of our study group. High-grade varices and low O 2 saturation are predictors of POPH. Echocardiography screening is crucial for the early detection of cases.

Background: Advancements in surgery, chemotherapy, and radiotherapy have improved survivalfor brain tumor patients, increasing the risk of second primary tumors (SPTs) among long-term survivors. This study examines the types and risks of SPTs in brain tumor patients presenting at a tertiary care hospital. Methods: This single-center, retrospective study explored occurrences of SPTs following prima-ry brain tumors and occurrences of brain tumors as SPTs following primary extra neural tumors. A total of 41 patients were included and analyzed presenting with histologically confirmed SPTs between 1st January 2000 and 31st December 2020. Results: The study included 41 patients with SPTs, primarily female (65.9%). Of these, 20 pa-tients (48.7%) developed SPTs after a primary brain tumor, while 21 patients (51.2%) developed brain tumors as SPTs after extra-neural tumors. Among patients who developed SPTs after brain tumors (n=20), meningioma (n=8, 40.0%) and pituitary adenoma (n=6, 30.0%) were the most prevalent first primary tumors (FPTs) while breast tumors predominated as SPTs (n=4, 20.0%). Survival analysis indicated younger mean age (44.5 years) for patients marked alive, compared to those marked deceased (57.0 years) and those with unknown outcomes (63.0 years). Conclusion Based on this retrospective analysis, the median age at diagnosis was 44.5 years,with a considerable number of patients (36.6%) having uncertain outcomes at follow-up due to incomplete records. These findings highlight the need for improved follow-up data management to better assess long-term survival in patients with SPTs following brain tumors.

Purpose: This study aimed to estimate the prevalence and predictors of portopulmonary hypertension (POPH) in children with portal hypertension. Methods: We recruited children of both sexes aged 3–15 years with portal hypertension that was clinically suspected and confirmed by the presence of varices on esophagogastroduodenoscopy (EGD). The participants underwent clinical examination, 6-min walk distance (6-MWD), and echocardiography. Results: We enrolled 94 children with portal hypertension: 26.6% with pre-hepatic causes and 73.4% secondary to chronic liver disease. Among our participants, 13.8% had one or more cardiac manifestations, such as exercise intolerance, dyspnea on exertion, cyanosis, or orthopnea, whereas 86.2% were asymptomatic. EGD examination revealed grade I varices in 54.3% of cases, grade II–III in 43.6%, and grade IV in 2.1%. Pulmonary hypertension (>35 mmHg) was detected in 30.9% of cases using echocardiography; two of them were >45 mmHg. Patients with POPH had significantly more frequent dyspnea on exertion, lower O 2 saturation, and more severe variceal grades than those with normal pulmonary artery pressure. Five (6.9%) cases had <300 m 6-MWD, with no significant difference between patients with normal and those with elevated pulmonary artery pressure. The duration of portal hypertension and 6-MWD were correlated significantly with the echocardiographic measures. High-grade varices (p=0.04) and low O 2 saturation (p=0.03) were identified as risk factors for POPH. Conclusion POPH was detected in 30.9% of our study group. High-grade varices and low O 2 saturation are predictors of POPH. Echocardiography screening is crucial for the early detection of cases.

Purpose: This study aimed to estimate the prevalence and predictors of portopulmonary hypertension (POPH) in children with portal hypertension. Methods: We recruited children of both sexes aged 3–15 years with portal hypertension that was clinically suspected and confirmed by the presence of varices on esophagogastroduodenoscopy (EGD). The participants underwent clinical examination, 6-min walk distance (6-MWD), and echocardiography. Results: We enrolled 94 children with portal hypertension: 26.6% with pre-hepatic causes and 73.4% secondary to chronic liver disease. Among our participants, 13.8% had one or more cardiac manifestations, such as exercise intolerance, dyspnea on exertion, cyanosis, or orthopnea, whereas 86.2% were asymptomatic. EGD examination revealed grade I varices in 54.3% of cases, grade II–III in 43.6%, and grade IV in 2.1%. Pulmonary hypertension (>35 mmHg) was detected in 30.9% of cases using echocardiography; two of them were >45 mmHg. Patients with POPH had significantly more frequent dyspnea on exertion, lower O 2 saturation, and more severe variceal grades than those with normal pulmonary artery pressure. Five (6.9%) cases had <300 m 6-MWD, with no significant difference between patients with normal and those with elevated pulmonary artery pressure. The duration of portal hypertension and 6-MWD were correlated significantly with the echocardiographic measures. High-grade varices (p=0.04) and low O 2 saturation (p=0.03) were identified as risk factors for POPH. Conclusion POPH was detected in 30.9% of our study group. High-grade varices and low O 2 saturation are predictors of POPH. Echocardiography screening is crucial for the early detection of cases.

Background: Advancements in surgery, chemotherapy, and radiotherapy have improved survivalfor brain tumor patients, increasing the risk of second primary tumors (SPTs) among long-term survivors. This study examines the types and risks of SPTs in brain tumor patients presenting at a tertiary care hospital. Methods: This single-center, retrospective study explored occurrences of SPTs following prima-ry brain tumors and occurrences of brain tumors as SPTs following primary extra neural tumors. A total of 41 patients were included and analyzed presenting with histologically confirmed SPTs between 1st January 2000 and 31st December 2020. Results: The study included 41 patients with SPTs, primarily female (65.9%). Of these, 20 pa-tients (48.7%) developed SPTs after a primary brain tumor, while 21 patients (51.2%) developed brain tumors as SPTs after extra-neural tumors. Among patients who developed SPTs after brain tumors (n=20), meningioma (n=8, 40.0%) and pituitary adenoma (n=6, 30.0%) were the most prevalent first primary tumors (FPTs) while breast tumors predominated as SPTs (n=4, 20.0%). Survival analysis indicated younger mean age (44.5 years) for patients marked alive, compared to those marked deceased (57.0 years) and those with unknown outcomes (63.0 years). Conclusion Based on this retrospective analysis, the median age at diagnosis was 44.5 years,with a considerable number of patients (36.6%) having uncertain outcomes at follow-up due to incomplete records. These findings highlight the need for improved follow-up data management to better assess long-term survival in patients with SPTs following brain tumors.

Purpose: This study aimed to estimate the prevalence and predictors of portopulmonary hypertension (POPH) in children with portal hypertension. Methods: We recruited children of both sexes aged 3–15 years with portal hypertension that was clinically suspected and confirmed by the presence of varices on esophagogastroduodenoscopy (EGD). The participants underwent clinical examination, 6-min walk distance (6-MWD), and echocardiography. Results: We enrolled 94 children with portal hypertension: 26.6% with pre-hepatic causes and 73.4% secondary to chronic liver disease. Among our participants, 13.8% had one or more cardiac manifestations, such as exercise intolerance, dyspnea on exertion, cyanosis, or orthopnea, whereas 86.2% were asymptomatic. EGD examination revealed grade I varices in 54.3% of cases, grade II–III in 43.6%, and grade IV in 2.1%. Pulmonary hypertension (>35 mmHg) was detected in 30.9% of cases using echocardiography; two of them were >45 mmHg. Patients with POPH had significantly more frequent dyspnea on exertion, lower O 2 saturation, and more severe variceal grades than those with normal pulmonary artery pressure. Five (6.9%) cases had <300 m 6-MWD, with no significant difference between patients with normal and those with elevated pulmonary artery pressure. The duration of portal hypertension and 6-MWD were correlated significantly with the echocardiographic measures. High-grade varices (p=0.04) and low O 2 saturation (p=0.03) were identified as risk factors for POPH. Conclusion POPH was detected in 30.9% of our study group. High-grade varices and low O 2 saturation are predictors of POPH. Echocardiography screening is crucial for the early detection of cases.

Background: Advancements in surgery, chemotherapy, and radiotherapy have improved survivalfor brain tumor patients, increasing the risk of second primary tumors (SPTs) among long-term survivors. This study examines the types and risks of SPTs in brain tumor patients presenting at a tertiary care hospital. Methods: This single-center, retrospective study explored occurrences of SPTs following prima-ry brain tumors and occurrences of brain tumors as SPTs following primary extra neural tumors. A total of 41 patients were included and analyzed presenting with histologically confirmed SPTs between 1st January 2000 and 31st December 2020. Results: The study included 41 patients with SPTs, primarily female (65.9%). Of these, 20 pa-tients (48.7%) developed SPTs after a primary brain tumor, while 21 patients (51.2%) developed brain tumors as SPTs after extra-neural tumors. Among patients who developed SPTs after brain tumors (n=20), meningioma (n=8, 40.0%) and pituitary adenoma (n=6, 30.0%) were the most prevalent first primary tumors (FPTs) while breast tumors predominated as SPTs (n=4, 20.0%). Survival analysis indicated younger mean age (44.5 years) for patients marked alive, compared to those marked deceased (57.0 years) and those with unknown outcomes (63.0 years). Conclusion Based on this retrospective analysis, the median age at diagnosis was 44.5 years,with a considerable number of patients (36.6%) having uncertain outcomes at follow-up due to incomplete records. These findings highlight the need for improved follow-up data management to better assess long-term survival in patients with SPTs following brain tumors.

Purpose: This study aimed to estimate the prevalence and predictors of portopulmonary hypertension (POPH) in children with portal hypertension. Methods: We recruited children of both sexes aged 3–15 years with portal hypertension that was clinically suspected and confirmed by the presence of varices on esophagogastroduodenoscopy (EGD). The participants underwent clinical examination, 6-min walk distance (6-MWD), and echocardiography. Results: We enrolled 94 children with portal hypertension: 26.6% with pre-hepatic causes and 73.4% secondary to chronic liver disease. Among our participants, 13.8% had one or more cardiac manifestations, such as exercise intolerance, dyspnea on exertion, cyanosis, or orthopnea, whereas 86.2% were asymptomatic. EGD examination revealed grade I varices in 54.3% of cases, grade II–III in 43.6%, and grade IV in 2.1%. Pulmonary hypertension (>35 mmHg) was detected in 30.9% of cases using echocardiography; two of them were >45 mmHg. Patients with POPH had significantly more frequent dyspnea on exertion, lower O 2 saturation, and more severe variceal grades than those with normal pulmonary artery pressure. Five (6.9%) cases had <300 m 6-MWD, with no significant difference between patients with normal and those with elevated pulmonary artery pressure. The duration of portal hypertension and 6-MWD were correlated significantly with the echocardiographic measures. High-grade varices (p=0.04) and low O 2 saturation (p=0.03) were identified as risk factors for POPH. Conclusion POPH was detected in 30.9% of our study group. High-grade varices and low O 2 saturation are predictors of POPH. Echocardiography screening is crucial for the early detection of cases.

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

Aims: This study was aimed to monitor the asymptomatic carriage of coagulase-positive staphylococcal bacteria among university male students and detect the prevalence of virulence marker genes that encode methicillin resistance (mecA) and Panton-Valentine leukocidin (PVL) toxin among the isolates. Methodology and results: Single nasal swaps were collected from 144 participating students who resided at four different locations within Al-Madinah city. A total of 112 Gram-positive staphylococcal isolates were recovered from the 144 participants (carriage rate of 77.8%). Coagulase-positive staphylococci were differentiated using duplex PCR amplification of the 16S rRNA and nuc genes and accounted for 30 isolates (carriage rate of 20.8%). These isolates were most prevalent in the northern and southern parts of Al-Madinah city, while the lowest numbers of isolates were detected in students of the eastern part. Coagulase-positive isolates were further phenotypically characterized for methicillin resistance by the disc diffusion method. Uniplex PCR assays were conducted to screen for mecA- and PVL toxin-encoding genes. The mecA gene was amplified from all 15 (50%) methicillin-resistant coagulase-positive isolates, while the PVL toxin-encoding gene was detected in 19 isolates (63.3%), 10 (33.3%) of which contained the mecA gene. Lastly, PCR amplification of the NRPS gene from coagulase-positive isolates revealed the absence of Staphylococcus argenteus, the recently discovered genetically divergent lineage of Staphylococcus aureus. Conclusion, significance and impact of study An elevated prevalence of coagulase-positive isolates harboring mecA and PVL virulence genes was observed compared with previous investigations. This poses a potential threat if they spread among the population, resulting in outbreaks of community-acquired infections.