Primary ciliary dyskinesia encompasses a heterogenous group of inherited condition characterized by clinical, functional, and ultrastructural features. The transmission electronmicroscopic findings of nasal cilia in a 14-year old girl with primary ciliary dyskinesia were studied. The ultrastructure of axonemes showed normal outer membrane, dynein arms, microtubules, and nexin links but partial lack of radial spokes. The nature of the defective spoke is not clear and further studies will be necessary to determine how the radial spokes and central sheath interact and coordinate ciliary movement.
Adolescent ; Arm ; Axoneme ; Cilia ; Dyneins ; Female ; Humans ; Kartagener Syndrome* ; Membranes ; Microtubules

Primary mediastinal nonseminomatous germ cell tumor associated with Klinefelter's syndrome is a rare disorder. We experienced a case of recurred primary mediastinal nonseminomatous germ cell tumor developed in a 24-year-old patient with Klinefelter's syndrome. The patient had been treated with surgery and combination chemotherapy under the diagnosis of primary mediastinal nonseminomatous germ cell tumor before. A round mass was found on the right lower lung field in the chest X-ray during follow up. The patient was diagnosed as recurred primary nonseminomatous germ cell tumor and Klinefelter's syndrome through tumor markers, peripheral blood karyotyping, and other tests including hormonal assay and was treated with combination chemotherapy and surgery again. When the patient is diagnosed as primary mediastinal nonseminomatous germ cell tumor, Klinefelter's syndrome and hematologic malignancies should be considered to be associated diseases and vice versa.
Diagnosis ; Drug Therapy, Combination ; Follow-Up Studies ; Germ Cells* ; Hematologic Neoplasms ; Humans ; Karyotyping ; Klinefelter Syndrome* ; Lung ; Neoplasms, Germ Cell and Embryonal* ; Thorax ; Biomarkers, Tumor ; Young Adult

PURPOSE: To evaluate the efficacy and safety of gemcitabine and carboplatin (GC) in the treatment of advanced non-small-cell lung cancer (NSCLC). MATERIALS AND METHODS: Between November 1999 and April 2001, 34 patients were enrolled in this study. The median age was 66 (range: 52-74) years old and all were male. Sixteen patients demonstrated stage IIIB, 15 stage IV, and 3 recurrence of disease after surgery. Twenty-two patients showed a ECOG performance status of 0 or 1 and 12 had 2. Twenty patients presented with squamous cell carcinoma, 11 adenocarcinoma and 3 unclassified NSCLC. The treatment regimen consisted of intravenous carboplatin AUC of 6 on day 1 and gemcitabine 1,250 mg/m2 on day 1 and 8. The treatment was repeated every 28 days. Toxicities were evaluated according to WHO toxicity criteria. RESULTS: All thirty-four patients were evaluable. Partia responses were observed in 15 patients. The overall response rate was 44% (95% confidence interval: 27-61%) and the median response duration was 26 (range 8-60 ) weeks. The median survival of all patients was 50 (range 8-70 ) weeks. During a total of 144 cycles, granulocytopenia greater than WHO grade 2 occurred in 2%, thrombocytopenia in 2%, and anemia in 3%, respectively. Non- hematologic toxicities were minor and easily controlled. CONCLUSION: A combination chemotherapy of intravenous gemcitabine and carboplatin has a relatively high activity with acceptable toxicities in patients with advanced NSCLC.
Adenocarcinoma ; Agranulocytosis ; Anemia ; Area Under Curve ; Carboplatin* ; Carcinoma, Non-Small-Cell Lung* ; Carcinoma, Squamous Cell ; Drug Therapy, Combination ; Humans ; Lung Neoplasms ; Male ; Recurrence ; Thrombocytopenia

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital, urinary and gastrointestinal tracts, which arises from defects in the embryonal process of descent of urorectal septum or fusion to cloacal membrane. Anomalies associated with persistent cloaca are found in the upper urinary tract, gastrointestinal tract, cardiovascular system, central nervous system and respiratory system, which are not easily detected through ultrasound during pregnancy. It has been reported that if those anomalies are diagnosed early, they can be corrected surgically. We present a case of persistent cloaca with hydrocolpos confirmed by autopsy after emergency cesarean section which was initially presented as a huge abdominal cystic mass and bilateral hydronephrosis by ultrasound at 34 weeks of gestation.
Autopsy ; Cardiovascular System ; Central Nervous System ; Cesarean Section ; Cloaca* ; Emergencies ; Female ; Gastrointestinal Tract ; Hydrocolpos* ; Hydronephrosis ; Membranes ; Pregnancy ; Respiratory System ; Ultrasonography ; Urinary Tract