RESUMO
BACKGROUND: A 55-year-old Caucasian man presented with weight loss, cramping abdominal pains, an increasing abdominal circumference and diarrhea. Physical examination showed no abnormalities besides a puffy abdomen. His past medical history included a recent subcutaneous swelling in the neck, histologically compatible to a benign solitary fibrous tumor. All blood results were within normal limits. Abdominal ultrasonography showed a tumor with diameter of 6.7 cm, probably originating from the pancreas, with ascites and retroperitoneal lymphadenopathy. This was followed by a CT scan. CT scan of the abdomen was repeated following therapy.
RESUMO
Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electro-oculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities.
Assuntos
Cromossomos Humanos Par 11/genética , Perda Auditiva Neurossensorial/genética , Perda Auditiva/genética , Heterozigoto , Retinose Pigmentar/genética , Adulto , Audiometria de Tons Puros , Eletroculografia , Feminino , Fundo de Olho , Genes Recessivos , Ligação Genética , Perda Auditiva/congênito , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , SíndromeRESUMO
A presence of cystatins, inhibitors of cysteine protease, was investigated in tears of patients with different corneal pathologies. Tear fluid samples were collected with glass capillaries in 28 patients (28 eyes) and 15 healthy controls (15 eyes). Only after corneal transplantation (8) or in corneal dystrophy (6) but not after cataract extraction (5) or other traumatic conditions of the cornea (9) was a significant difference in inhibitory activity of cystatins measured in comparison with the 15 controls. In this study it could not be decided whether the lower level of cystatins was related to the cause or the effect of the condition of the eye.
Assuntos
Córnea/patologia , Doenças da Córnea/metabolismo , Cistatinas/metabolismo , Inibidores de Cisteína Proteinase/metabolismo , Lágrimas/metabolismo , Biomarcadores , Córnea/cirurgia , Doenças da Córnea/patologia , Doenças da Córnea/cirurgia , Transplante de Córnea/efeitos adversos , Transplante de Córnea/fisiologia , HumanosRESUMO
BACKGROUND: In early stage vulvar cancer, the sentinel lymph node procedure with a radioactive tracer appears to be a promising new diagnostic tool to predict lymph node status. No detection failures have been published so far in vulvar cancer. We recently experienced failure in the detection of the sentinel lymph node in a patient with a positive lymph node. CASE: A 75-year-old patient with a clinical T2N0M0 squamous cell carcinoma replacing the clitoris underwent a sentinel node procedure. A sentinel node was detected only at one groin. An exploration of the other groin showed a positive lymph node totally replaced by tumor. CONCLUSION: In the case we present, stasis of the lymph flow might be the leading cause of the failure of the sentinel lymph node procedure.