A 5-month-old male child was admitted with cough and fever, during which excessive bleeding occurred from a venipuncture site. Born from a third-degree consanguineous marriage, the child was developmentally normal. Routine blood tests showed a slightly elevated white blood cell count due to infection, while coagulation studies revealed prolonged PT and APTT. A mixing study indicated no inhibitors.Advanced testing showed normal levels of fibrinogen and factor VIII, but a significantly low factor V level (2.2%), indicating moderate factor V deficiency. The child received fresh frozen plasma (FFP) transfusions as needed and has been thriving with regular follow-ups. Genetic counseling was provided to the parents, who also had abnormal coagulation profiles but no bleeding tendencies. Genetic testing was offered but not pursued due to financial constraints. This case highlights the importance of awareness of inherited bleeding disorders in consanguineous families and the need for supportive management and counseling.

Objective: Cerebral ischemia is a medical condition that occurs due to poor supply of blood in the brain. Reperfusion being savage further exaggerates the tissue injury causing cerebral ischemia/reperfusion injury (CI/R). CI/R is marked by an impairment in release of neurotransmitter, excitotoxicity, oxidative stress, inflammation, and neuronal apoptosis.The current study has utilized brivaracetam (BRV), a synaptic vesicle protein 2A modulator in experimental model of CI/R injury. Methods: CI/R injury was induced in Swiss Albino mice by occlusion of common carotid arteries followed by reperfusion. Animals were assessed for learning and memory, motor coordination (Rota rod, lateral push, and inclined beam walking test), cerebral infarction, and histopathological alterations. Biochemical assessments were made for oxidative stress (thiobarbituric acid reactive species, reduced glutathione, catalase, superoxide dismutase), inflammation (tumor necrosis factor-α and interleukin-10), and acetylcholinesterase activity (AChE) in brain supernatants. Results: CI/R animals showed impairment in learning, memory, and motor coordination, along with increase in cerebral infarction, and histopathological alterations. Furthermore, increase in brain oxidative stress, inflammation, and AChE activity were recorded in CI/R animals. Administration of BRV (10 mg/kg and 20 mg/kg; p.o.) was observed to recuperate CI/R induced impairments in behavioral, biochemical, and histopathological analysis. Conclusion It may be concluded that BRV mediates neuroprotection during CI/R via decreasing brain oxidative stress, inflammation, and AChE activity.

Background: Post-liver transplant biliary strictures are a common cause of morbidity among patients who have undergone living donor liver transplantation (LDLT). Limited data are available concerning the response rates to various treatment modalities and the long-term outcomes for these individuals. Methods: This study was a retrospective analysis of a prospectively collected database, including adult patients aged 18 years or older who underwent LDLT between 2006 and 2022. Results: Between 2006 and 2022, a total of 3,550 patients underwent liver transplantation. After applying exclusion criteria, 2,956 patients were included in the analysis.During the study period, 344 patients (11.6%) developed biliary strictures. Of these, 77.0% underwent endoscopic retrograde cholangiopancreatography as the primary treatment for biliary strictures, while the remainder received percutaneous transhepatic biliary drainage. Identified risk factors for post-liver transplant biliary strictures included the presence of multiple biliary anastomoses, bile leak, and older donor and recipient ages. The overall graft and patient survival rates were comparable between patients with and without biliary strictures, at both 1 year (93.0% vs. 96.3%) and 5 years (82.3% vs. 79.2%). Conclusions Biliary strictures are observed in approximately 11% of recipients following LDLT. While the presence of biliary strictures is associated with increased morbidity, it does not significantly impact patient survival.

Objective: The COVID-19 pandemic disrupted disease surveillance systems globally, leading to reduced notifications of other infectious diseases. This study aims to estimate the impact of the COVID-19 pandemic on the infectious disease surveillance system in Klang district, Selangor state, Malaysia. Methods: Data on notifiable diseases from 2014 to 2022 were sourced from the Klang District Health Office. The 11 diseases with more than 100 notifications each were included in the study. For these 11 diseases, a negative binomial regression model was used to explore the effect of the pandemic on case notifications and registrations by year, and a quasi-Poisson regression model was used to explore the changes by week. Results: The results showed a reduction in the number of notifications and registrations for all 11 diseases combined during the pandemic compared with previous years. Changes between expected and observed notifications by week were heterogeneous across the diseases. Discussion: These findings suggest that restrictive public health and social measures in Klang district may have impacted the transmission of other infectious diseases during the COVID-19 pandemic. The differential impact of the pandemic on disease notifications and reporting highlights the large ancillary effects of restrictive public health and social measures and the importance of building resilience into infectious disease surveillance systems.

Drowning is the third most common cause of accidental death in children. Various predictors for survival and neurological dysfunction include the age of victim, submersion time, salt versus fresh water, temperature of water, cardiopulmonary resuscitation at the scene, and time required to hospital arrival. Autonomic dysfunction, in particular heart rate variability in a critically ill patient, has been attributed to good neurological outcomes. We hereby describe a 10-year-old boy who accidentally drowned and developed a substantial heart rate variability with autonomic dysfunction. He was in the need for prolonged vasopressor support but eventually had a good neurological outcome.

Surgery for a symptomatic epiphrenic esophageal diverticulum (EED) typically involves a diverticulectomy with myotomy and partial fundoplication. A 54-year-old male patients presented with postprandial retrosternal pain and regurgitation. A contrast-enhanced computed tomography scan revealed an 8 × 6 × 7 cm left-sided EED. We planned the EED excision using the da Vinci Xi robot (Intuitive Surgical) from an abdominal transhiatal approach.The lower esophagus was looped, followed by the mobilization of the diverticulum and division of its neck using a robotic stapler. A 7-cm long esophagogastric myotomy was performed on the right side with a Toupet fundoplication. The total operative time was 240 minutes with a blood loss of 200 mL. An oral contrast study on postoperative day 1 showed no leak, and the patient was discharged the next day on an oral soft diet. The robotic transhiatal approach to treat EED is safe and may successfully overcome the difficulties of exposure and reach encountered in conventional laparoscopic surgery.

Objective: Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features. Methods: All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L. Results: The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts. Conclusion We expand the literature on CSF1R-L patients from India by reporting four new cases.