A case report published in UroPrecision shows that transurethral holmium laser ablation of a large seminal vesicle cyst can relieve acute urinary retention in Zinner syndrome, with the patient remaining asymptomatic and passing a normal uroflowmetry at one-year follow-up.

 

A case report published in UroPrecision shows that transurethral holmium laser ablation of a large seminal vesicle cyst can relieve acute urinary retention in Zinner syndrome, with the patient remaining asymptomatic and passing a normal uroflowmetry at one-year follow-up.

 

A case report published in UroPrecision describes the diagnosis and multidisciplinary management of para-testicular spindle cell rhabdomyosarcoma in a 17-year-old boy, highlighting how histopathology, immunohistochemistry and molecular testing guide treatment decisions in this rare tumor.

A case report published in UroPrecision describes how clinicians removed a broken silicone rod from a 71-year-old man’s bladder using cystoscopy alone, showing how tailored endoscopic technique and preoperative imaging can resolve a urological emergency without open surgery.

Nipah virus (NiV), a highly pathogenic zoonotic paramyxovirus, has emerged as a significant global public health threat due to its high mortality rate, potential for human-to-human transmission, and the absence of licensed vaccines or specific antiviral treatments. Since its initial identification in 1998 during an outbreak in Malaysia and Singapore, NiV has caused recurrent outbreaks in Bangladesh and India, with case fatality rates ranging from 40% to over 90%, and has been classified as a priority pathogen by the World Health Organization and the Coalition for Epidemic Preparedness Innovations. This perspective article provides a comprehensive international risk assessment of Nipah virus outbreaks and evaluates the medium- to long-term prevention and control prospects for China, a country that shares borders with endemic regions and possesses ecological conditions conducive to NiV transmission. The authors analyze the global epidemiology of NiV, including the natural reservoir (fruit bats of the Pteropus genus), transmission dynamics, and the factors driving outbreak emergence, such as deforestation, agricultural intensification, and increasing human-animal interface.

Congenital muscular dystrophies (CMDs) represent a genetically heterogeneous group of disorders characterized by muscle weakness, dystrophic changes on muscle biopsy, and onset typically in infancy or childhood. Variants in the INPP5K gene, which encodes a phosphoinositide 5-phosphatase that regulates phosphoinositide signaling, have recently been identified as a rare cause of congenital muscular dystrophy, commonly associated with early-onset cataracts and intellectual disability. This case report describes the first Chinese patient with INPP5K-related muscular dystrophy, a 28-year-old male with a notably mild phenotype that lacked intellectual disability, expanding the clinical spectrum of this disorder. The patient presented with bilateral cataracts requiring surgical correction at age 5, followed by adolescent-onset limb girdle weakness with postural hand tremors beginning at age 15 and progressive lower limb weakness at age 16. Muscle magnetic resonance imaging revealed a characteristic pattern of selective fatty infiltration, with severe involvement of gluteal and thigh muscles and striking sparing of the rectus femoris, sartorius, and gracilis muscles, a pattern that provides important diagnostic clues. Genetic analysis identified compound heterozygous novel INPP5K variants: a missense variant c.274C>T, p.(Arg92Cys), and a synonymous variant c.261G>A, p.(Lys87=).

Immune checkpoint inhibitor (ICI)-based immunotherapy has emerged as a transformative treatment strategy for stage III non-small cell lung cancer (NSCLC), significantly improving outcomes in both neoadjuvant and adjuvant settings. However, predictive biomarkers of response to immunotherapy remain limited, and identifying patients most likely to benefit from these treatments remains a critical unmet need. DNA polymerase epsilon (POLE) mutations, although rare in NSCLC, are associated with an increased tumor mutational burden (TMB) and enhanced neoantigen presentation, both of which are mechanistically linked to increased sensitivity to immune checkpoint inhibitor therapy. This case report describes a 52-year-old woman diagnosed with stage IIIA NSCLC whose tumor demonstrated negative programmed death-ligand 1 (PD-L1) expression, a factor typically associated with reduced likelihood of response to immunotherapy. Molecular profiling revealed a somatic POLE mutation (NM_006231.4: c.1270C>G, p.Leu424Val) in the absence of additional targetable tumor alterations. A perioperative chemo-immunotherapy approach was implemented, consisting of three cycles of neoadjuvant carboplatin, pemetrexed, and pembrolizumab, followed by curative-intent surgery. Restaging computed tomography after neoadjuvant therapy revealed a significant radiographic response, and histopathological examination of the surgical specimen demonstrated a pathological complete response (pCR), with no viable tumor cells identified.

Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening hematological emergency defined by severe deficiency of ADAMTS13, a metalloproteinase that cleaves ultra-large von Willebrand factor multimers. However, TTP-like syndromes without ADAMTS13 reduction can occur in the context of systemic infections such as human immunodeficiency virus (HIV), posing significant diagnostic and therapeutic challenges, particularly in high-risk and underdiagnosed populations. This case report describes a 45-year-old transgender woman who presented with abdominal and lumbar pain, severe anemia, and thrombocytopenia. Laboratory evaluation revealed schistocytes on peripheral blood smear, elevated lactate dehydrogenase, and indirect hyperbilirubinemia, prompting a high PLASMIC score and urgent initiation of plasma exchange for suspected primary TTP. However, subsequent investigations revealed preserved ADAMTS13 activity, effectively excluding immune-mediated TTP, and uncovered a previously undiagnosed advanced HIV infection with profound immunosuppression (CD4+ T-cell count of 33 cells/µL), accompanied by active Epstein-Barr virus (EBV) and human herpesvirus 8 (HHV-8) viremia. Further evaluation revealed disseminated AIDS-related Kaposi's sarcoma. Despite timely initiation of antiretroviral therapy and comprehensive supportive care, the patient experienced progressive clinical deterioration and died on day 69 of hospitalization.

Hereditary spherocytosis (HS) and thalassemia are among the most common inherited hemolytic anemias, yet their co-occurrence presents unique diagnostic challenges due to overlapping clinical manifestations. This case report describes a unique presentation of concurrent hematological disorders in a 2-year-old Chinese boy: hereditary spherocytosis caused by a novel gene mutation, together with α-globin gene triplication. The child presented with a history of longstanding hemolytic disease, with recurrent episodes of anemia, jaundice, and abdominal pain triggered by upper respiratory infections, accompanied by splenomegaly and cholecystolithiasis. Laboratory evaluation revealed increased osmotic fragility of red blood cells and elevated reticulocyte count, supporting a diagnosis of hemolytic anemia. Mutation analysis identified a de novo heterozygous mutation in the SPTB gene: c.149-1G>A, a novel splicing mutation not detected in either parent and not previously reported in the literature. This pathogenic variant is speculated to affect pre-mRNA splicing of β-spectrin, a critical component of the erythrocyte cytoskeleton. Concurrently, the child was found to carry α-globin gene triplication (αααanti4.2), a relatively rare numerical variation that may complicate the clinical presentation by altering hemoglobin synthesis.