RESUMO
Recent literature shows that hemithyroidectomy is a safe alternative for total thyroidectomy in the treatment of patients with well-differentiated thyroid cancer up to 4 cm in diameter and a low risk of recurrence. According to criteria of the 2015 American Thyroid Association guidelines, more than 28% of patients with well-differentiated thyroid cancer of a Dutch cohort would be eligible for hemithyroidectomy instead of the total thyroidectomy they actually underwent. However, standardisation and high quality pre- and postoperative diagnostics are required for responsible implementation of this new guideline in Dutch healthcare.
Assuntos
Adenocarcinoma/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Humanos , Recidiva Local de NeoplasiaRESUMO
BACKGROUND: Posttraumatic appendicitis is an appendicitis that develops as a consequence of abdominal trauma. Trauma is a relatively rare cause of appendicitis which is nowadays rarely mentioned in surgical textbooks. CASE DESCRIPTION: We describe the case of a 12-year-old girl who presented to the emergency department six days after abdominal trauma caused by a fall from an electrical bicycle, complaining of fever and abdominal pain. Her symptoms were caused by a perforated appendicitis. Her recovery after appendectomy was complicated by abscess formation and subsequent drainage, and the need for parenteral nutrition CONCLUSION: Abdominal pain and fever several days after an abdominal trauma may be a sign of posttraumatic appendicitis. The clinical signs and diagnostic work-up do not differ significantly from that of appendicitis with a different aetiology. Trauma is not a well-known cause of appendicitis, and this can cause delay in diagnosis and treatment.
Assuntos
Traumatismos Abdominais/complicações , Apendicite/diagnóstico , Apendicite/etiologia , Dor Abdominal , Apendicectomia , Apendicite/cirurgia , Criança , Drenagem , Feminino , HumanosRESUMO
BACKGROUND: A testicular germ cell tumour (TGCT) predisposing gene has been mapped to the Xq27 region on the X chromosome. These linkage findings remain to be confirmed by other studies. METHODS: In 276 patients and 169 unaffected first-degree male relatives, 12 microsatellite markers covering the candidate region were genotyped and used to study possible association of TGCT with Xq27. RESULTS: In contrast to previously reported linkage of familial TGCT and cryptorchidism with Xq27, we observed an association between the subset of TGCT cases without a family history of TGCT or cryptorchism and marker DXS1193 (p=0.014). Carriers of minor alleles were at increased risk (odds ratio (OR) 4.7, confidence interval (CI) 1.1-19.6) CONCLUSION: We found an association on Xq27 in a subset of TGCT cases, which suggests the presence of an X-linked gene that slightly or moderately increases risk to develop sporadic TGCT but not cryptorchidism.
Assuntos
Cromossomos Humanos X/genética , Genes Ligados ao Cromossomo X/genética , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Testiculares/genética , Genótipo , Humanos , Masculino , Repetições de Microssatélites , LinhagemRESUMO
OBJECTIVES: To investigate the frequency of azoospermia factor (AZF) deletions in Dutch patients with testicular germ cell tumors (TGCTs). Reduced fertility is associated with TGCTs and reduced fertility and TGCTs might share genetic risk factors according to the testicular dysgenesis hypothesis. Up to 8% of infertility and reduced fertility in the general male population can be explained by the presence of constitutional deletions of part of the long arm of the Y chromosome (Yq11), referred to as the AZF region. METHODS: In 112 patients with TGCT, screening for constitutional deletions in the AZF region was performed by multiplex polymerase chain reaction analysis in DNA extracted from peripheral blood lymphocytes. A set of 24 primer pairs, of which 20 primer pairs are homologous to previously identified and mapped sequenced tag sites within the AZF region were used. RESULTS: No deletions in the Yq11 region were detected in any of the 112 patients. CONCLUSIONS: Large Y chromosome microdeletions in the AZF region are not a major contributor to the development of TGCT and TGCT-associated reduced fertility.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Y/ultraestrutura , Germinoma/genética , Infertilidade Masculina/etiologia , Proteínas de Plasma Seminal/genética , Neoplasias Testiculares/genética , Criptorquidismo/genética , Análise Mutacional de DNA , Loci Gênicos , Germinoma/complicações , Humanos , Infertilidade Masculina/genética , Linfócitos/química , Masculino , Oligospermia/etiologia , Oligospermia/genética , Reação em Cadeia da Polimerase , Seminoma/complicações , Seminoma/genética , Neoplasias Testiculares/complicaçõesRESUMO
Testicular germ-cell tumours (TGCT) are the most common neoplasm in young men. Various studies have suggested the existence of an inherited predisposition to development of these tumours. Genome-wide screens subsequently provided evidence of a TGCT susceptibility gene on chromosome Xq27 (TGCT1) that might also predispose to cryptorchism. However, this putative gene has yet to be identified, and other TGCT susceptibility genes probably exist. Completion of the human gene map and advances in genetic research will facilitate further investigation of genetic predisposition to TGCT. Insight into inheritance of TGCT might lead to the identification of individuals at increased risk of developing the disorder, increase our understanding of the mutation pathways that lead to sporadic cases, and contribute to improvement in diagnosis and treatment. Clinicians should record the family history of cancer and urogenital differentiation defects in patients with TGCT.
