Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism

In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and may cause secondary degeneration of the testes. Animal models have shown that abnormalities, in the calcitonin gene-related peptide (CgRP) activity, could be relevant in the pathogenesis of cryptorchidism. We performed a mutation screening by PCR exon amplification, single-strand conformation polymorphism (SSCP) and sequencing in four candidate genes, CgRPs (alphaCgRP, betaCgRP), their receptor (CgRPR) and the receptor component protein (CgRP-RCP), in 90 selected cases of idiopathic unilateral or bilateral cryptorchidism. Mutation screening of the coding regions and intron-exon boundaries revealed some polymorphic variants but no pathogenic sequence changes. These preliminary data suggest that these genes are not major factors for cryptorchidism in humans

Validation of DHPLC for molecular diagnosis of beta-thalassemia in Southern Italy

beta-Thalassemia, the most common hereditary anemia in the Mediterranean area, results from over 200 causative mutations in the beta-globin locus. The aim of this study was to validate a denaturing high-performance liquid chromatography (dHPLC)-based assay for postnatal and prenatal molecular diagnosis of beta-thalassemia in Southern Italy. Sixty beta-thalassemic patients, affected either by thalassemia intermedia or thalassemia major, were analyzed in a blind study. We also carried out prenatal molecular diagnosis in 12 couples at-risk for having affected offspring. Chorionic villi samples were subjected to dHPLC analysis upon molecular characterization of the parental beta-globin alleles. Direct sequence analysis was used to validate each result, showing an accuracy rate of 100% for dHPLC. Overall, our protocol was able to identify the responsible mutations in all 96 analyzed subjects (including 12 prenatals in at-risk pregnancies), detecting the eight most common mutations in Southern Italy. Three rare mutations (one of which, reported here for the first time) that standard mutation detection methods failed to reveal, were also identified. dHPLC assay proved to be a reliable, rapid, and sensitive method for detecting both common and rare mutations within the beta-globin gene. Because of this property our protocol has the potential to be implemented for mutational screening in different areas of high prevalence for beta-thalassemia

Cerebral metastasis of cervical uterine cancer: report of three cases Metástases cerebrais de câncer de colo de útero: relato de três casos

Cervical uterine cancer (CUC) spreads locally (pelvis and paraortic lymphnodes) or distantly (lungs, liver and bones). Metastasis to central nervous system (CNS) are rare. There are about 80 cases reported in the literature. Outcome is poor and survival varies from 3 to 6 months. Three cases of CNS metastasis from CUC are reported, one infratentorial and two supratentorials in location. In one patient, the initial manifestation was due to the cerebral lesion, a feature reported for the first time. All cases were treated by surgery, radiotherapy and/or chemotherapy. Clinical findings and treatment options of these rare lesions are reviewed.<br>Tumores do cólo uterino se disseminam por contigüidade ou via hematogênica (pulmão, fígado e ossos). Metástases para sistema nervoso central são incomuns. Apenas cerca de 80 casos são citados na literatura. Manifestações clínicas são devidas à hipertensão intracraniana e a déficits focais. A sobrevida varia de 3 a 6 meses. Três casos são relatados sendo um infratentorial e dois supratentoriais. No primeiro, o diagnóstico da metástase antecedeu o da lesão uterina. No segundo, houve 5 anos sem recidiva após a cirurgia, fato este inédito. O tratamento foi cirurgia, radioterapia e/ou quimioterapia. A discussão enfatiza manejo multidisciplinar destas raras lesões

Lipoma do ângulo pontocerebelar: relato de caso Lipoma of the cerebellopontine angle: case report

Os lipomas do ângulo pontocerebelar são tumores muito raros. Em geral são assintomáticos, achados fortuitos em autópsia, tomografia computadorizada (TC) de crânio ou ressonância nuclear magnética do encéfalo. Os autores apresentam o caso de paciente, feminina, branca, 14 anos, há três anos com diminuição da audição à esquerda e há um ano com cefaléia, tipo hemicrânia à esquerda. A TC de crânio evidenciou lesão hipodensa, sem captação de contraste, no ângulo pontocerebelar esquerdo. A paciente foi submetida a cirurgia por via retrossigmóidea para abordagem da lesão, que se apresentou de coloração amarelada, característica de tecido adiposo. Tendo em vista o envolvimento de estruturas nervosas (VII e VIII nervos cranianos), optou-se pela exérese parcial da lesão. A paciente evoluiu com melhora da cefaléia, sem piora do déficit auditivo. Após três anos de seguimento, mantém o quadro estável. Conclui-se que os lipomas do ângulo pontocerebelar, quando assintomáticos, podem ser tratados conservadoramente. Entretanto aqueles associados a sintomatologia persistente e progressiva devem ser operados. A exérese total ou parcial vai depender do envolvimento ou não das estruturas neurovasculares adjacentes.<br>Lipoma of the cerebellopontine angle is a very rare tumor. We report the case of a 14-years-old female, with left side deafness during three years, associated with headache. CT scan showed an hypodense mass, without enhancement at the cerebellopontine angle. The patient was treated surgically by left retrosigmoid approach. The lesion involved the eighth and seventh cranial nerves and only a partial removal was performed. The postoperative course was uneventful. She had no more headache; the deafness of the left side remained unchanged. Asymptomatic lipoma of the cerebellopontine angle can be treated conservatively, although those with progressive symptoms should be treated surgically, with total or partial remove based on their neurovascular involvement