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.

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

Cardiac failure is a clinical syndrome that may develop in children owing to cardiac dysfunction or underlying structural heart diseases. Considering the differences in diagnostic and therapeutic approaches for pediatric heart failure (PHF) and adult heart failure, we have reviewed the current literature on PHF. Relevant studies were extracted from MEDLINE/PubMed, Google Scholar, and Clinical Trial Registries using the terms “pediatric heart failure” or “heart failure in children” and “management” or “decongestive therapy.” Recent advances in diagnostic approaches, such as cardiac magnetic resonance, speckle-tracking echocardiography, tissue Doppler imaging, and molecular diagnostic techniques, have increased our under -standing of PHF. It is imperative that clinicians evaluate the interrelated factors responsible for the develop ment of PHF, including myocardial function, pulmonary and systemic blood flow, heart rhythm, valve function, and nutritional status. Although recent advances have demon strated the efficacy of many new drugs in adult heart failure trials, it cannot be concluded that these drugs will show similar efficacy in children, considering the heterogeneous nature of the underlying mechanisms and variable pharmacody-namics and pharmacokinetics. Therefore, the underlying pathophysiology of PHF and the mechanisms of action of different drugs should be considered when selecting appropriate therapies. Further trials are needed to establi sh the efficacy and safety of these drugs, and a combined mul-ti disciplinary strategy will help enhance PHF outcomes.