ABSTRACT
Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female diagnosed with small cell carcinoma of the ovary and hypercalcemia (SCCOHT). There was a strong family history of the disease, a reduction in the age of onset in the proband, and the absence of BRCA mutations. This case suggests the phenomenon of genetic anticipation in an ovarian cancer.
Subject(s)
Anticipation, Genetic , Carcinoma, Small Cell/genetics , Ovarian Neoplasms/genetics , Abdominal Pain/etiology , Adult , Age of Onset , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bleomycin/administration & dosage , Carcinoma, Small Cell/blood , Carcinoma, Small Cell/drug therapy , Carcinoma, Small Cell/epidemiology , Carcinoma, Small Cell/radiotherapy , Carcinoma, Small Cell/surgery , Chemotherapy, Adjuvant , Child , Cisplatin/administration & dosage , Combined Modality Therapy , Diseases in Twins , Etoposide/administration & dosage , Family Health , Female , Hormone Replacement Therapy , Humans , Hypercalcemia/etiology , Incidence , Menopause, Premature , Ovarian Neoplasms/blood , Ovarian Neoplasms/drug therapy , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/radiotherapy , Ovarian Neoplasms/surgery , Ovariectomy , Pedigree , Radiotherapy, Adjuvant , Remission InductionABSTRACT
PURPOSE OF REVIEW: We will review the 2007/2008 literature on pediatric genitourinary tumors. RECENT FINDINGS: Newly identified constitutional epigenetic defects in Wilms tumor genes extend the understanding of Wilms tumor risk in children lacking syndromic features, and add to the complexity of the pathogenesis of these tumor suppressor genes. Pediatric renal cell carcinoma has distinct molecular characteristics and clinical associations from the adult counterpart. The pathway from PAX3-FKHR translocation to the development of rhabdomyosarcoma tumors has been further elucidated. SUMMARY: Therapeutic strategies continue to be driven by developments in molecular diagnostics in pediatric genitourinary tumors.
Subject(s)
Urogenital Neoplasms/diagnosis , Urogenital Neoplasms/therapy , Humans , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Kidney Neoplasms/therapy , Male , Rhabdomyosarcoma/diagnosis , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/therapy , Testicular Neoplasms/diagnosis , Testicular Neoplasms/genetics , Testicular Neoplasms/therapy , Urogenital Neoplasms/genetics , Wilms Tumor/diagnosis , Wilms Tumor/genetics , Wilms Tumor/therapyABSTRACT
BACKGROUND: Thromboprophylaxis during pregnancy can be challenging when heparin is contraindicated. Limited data exist regarding alternative anticoagulants in the setting of pregnancy. CASE: We present a patient with antiphospholipid syndrome who developed heparin-induced thrombosis in the third trimester of pregnancy. She was treated with therapeutic doses of intravenous lepirudin until delivery. Induction of labor, regional anesthesia, and forceps-assisted vaginal delivery were performed with no fetal, neonatal, or maternal complications. Postpartum, the patient was transitioned to warfarin therapy, and at 6 weeks postdelivery neither the patient nor her infant had developed any new problems. CONCLUSION: Intravenous lepirudin use at therapeutic doses in late gestation as an alternative to heparin was accomplished with minimal maternal and fetal morbidity.
Subject(s)
Anticoagulants/therapeutic use , Pregnancy Complications, Cardiovascular/drug therapy , Venous Thrombosis/drug therapy , Anticoagulants/adverse effects , Female , Heparin/adverse effects , Hirudins , Humans , Infusions, Intravenous , Pregnancy , Pregnancy Complications, Cardiovascular/chemically induced , Pregnancy Trimester, Third , Recombinant Proteins/therapeutic use , Venous Thrombosis/chemically inducedABSTRACT
Benign prostatic hyperplasia (BPH) is the most common form of prostate disease in middle-aged and elderly men, and leads to severe impairment later in life. Despite its significant impact on public health, the underlying cause of BPH is yet to be determined. This hypothesis proposes a new causal factor for BPH. Applying concepts of dynamics of fluids to the process of urination it could be stated that a turbulent urinary flow through the passage of the urethra. The turbulent urinary flow in the urethra applies pressure and stretch forces to the surrounding tissue. This stimulus repeated over time and coupled with age-related changes of the urethral tissue could contribute to the development of BPH. In support of this hypothesis, several mechanotransduction studies have shown that vibration and pressure forces applied to different cell tissues can provoke cellular and molecular changes. Another supportive data is the presence of the hyperplasic reaction surrounding the urethra specifically located in the transition zone, the only zone where BPH develops. It is crucial to identify causal factors to understanding the disease and to determine effective primary prevention strategies. Future studies of the dynamics of fluids in the urethra are warranted. The finding of significant forces transmitted to the periurethral tissue from a turbulent urinary flow could give us the clue to the underlying cause of BPH. If this hypothesis proves to be valid there are several primary prevention measures that could be implemented to impede the development of BPH. Educational intervention measures in younger populations to avoid frequent urinary retention and active urination (process of forcing the urine through the urethra at a high velocity) could be considered. Studies of the impact of turbulence in the standing vs. sitting position during urination in men should also be considered.
