Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the "gold standard" for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilting. To further characterize this defect of unknown significance, we studied the ciliary axonemes by TEM from both PCD-confirmed patients and patients with other sino-pulmonary diseases. We detected peripheral doublets tilting in all the PCD patients, without any significant difference in the distribution of ciliary beat pattern or mutated gene. This defect was also present in those patients with normal ultrastructure PCD subtypes. We believe that the performance of axonemal asymmetry analysis would be helpful to enhance diagnosis of PCD.

Carcinoma tubuloquístico. Una entidad infrecuente en la patología tumoral renal / Tubulocystic renal cell carcinoma. A rare entity in neoplastic renal pathology

El carcinoma renal tubuloquístico es una neoplasia infrecuente dentro de la patología tumoral renal. En el presente caso comentamos la evolución de un paciente con cólicos nefríticos de repetición en el que durante el seguimiento ecográfico se descubrió una lesión nodular de aspecto quístico. Posteriormente la lesión aumentó de tamaño y se decidió nefrectomía parcial (tumorectomía). En el examen histológico e inmunohistoquímico se estableció el diagnóstico de carcinoma renal tubuloquístico

Tubulocystic renal carcinoma is an uncommon neoplasm. We present a case of a patient presenting with multiple renal colic. A nodular cystic lesion was an incidental sonographic finding which increased in size during subsequent follow-ups. The patient underwent radical nephrectomy and tubular renal carcinoma was diagnosed histopathologically and immunohistochemically

[Tubulocystic renal cell carcinoma. A rare entity in neoplastic renal pathology]. / Carcinoma tubuloquístico. Una entidad infrecuente en la patología tumoral renal.

Tubulocystic renal carcinoma is an uncommon neoplasm. We present a case of a patient presenting with multiple renal colic. A nodular cystic lesion was an incidental sonographic finding which increased in size during subsequent follow-ups. The patient underwent radical nephrectomy and tubular renal carcinoma was diagnosed histopathologically and immunohistochemically.