Pregnancy- and lactation-associated osteoporosis: a narrative mini-review.
Jan,
2011
Pregnancy and lactation represent stress states for maternal health and development. Pregnancy and lactation-associated osteoporosis (PLaOs) are uncommon and rare conditions characterized by the occurrence of fragility fracture(s), most commonly vertebral, in late pregnancy or during the postpartum period. The etiology and pathogenesis of these conditions is not clear and several theories are proposed. Due to the rarity of the disease, various isolated clinical cases are reported in the medical literature and only one case-control study thus far. In the current review we try to analyze the pathophysiologic pathways implicated in these conditions and provide possible explanations regarding etiology; we present data on the epidemiology, clinical course, diagnosis and current approved treatment modalities of PLaOs. Подробнее
Endocrine regulations
Bernard Soulier syndrome in pregnancy: a systematic review.
Jul,
2010
Bernard Soulier syndrome (BSS) is a rare disorder of platelets, inherited mainly as an autosomal recessive trait. It is characterised by qualitative and quantitative defects of the platelet membrane glycoprotein (GP) Ib-IX-V complex. The main clinical characteristics are thrombocytopenia, prolonged bleeding time and the presence of giant platelets. Data on the clinical course and outcome of pregnancy in women with Bernard Soulier syndrome is scattered in individual case reports. In this paper, we performed a systematic review of literature and identified 16 relevant articles; all case reports that included 30 pregnancies among 18 women. Primary postpartum haemorrhage was reported in 10 (33%) and secondary in 12 (40%) of pregnancies, requiring blood transfusion in 15 pregnancies. Two women had an emergency obstetric hysterectomy. Alloimmune thrombocytopenia was reported in 6 neonates, with one intrauterine death and one neonatal death. Bernard Soulier syndrome in pregnancy is associated with a high risk of serious bleeding for the mother and the neonate. A multidisciplinary team approach and individualised management plan for such women are required to minimise these risks. An international registry is recommended to obtain further knowledge in managing women with this rare disorder. Подробнее
Haemophilia : the official journal of the World Federation of Hemophilia
Paraneoplastic humorally mediated hypercalcemia induced by parathyroid hormone-related protein in gynecologic malignancies: a systematic review.
Sep,
2009
Humoral hypercalcemia of malignancy (HHM) is a metabolic phenomenon that is mediated by the paraneoplastic secretion of parathyroid hormone-related peptide (PTHrP). Gynecologic malignant neoplasms complicated by HHM have been reported for organs such as the uterus, cervix, ovary, vulva and the vagina. The purpose of our study was to perform a review of the published cases in the literature and, further, to identify parameters with effect on outcome. Among 34 women with gynecologic neoplasms, 22 suffered from ovarian and 6 from uterine malignancies, while 3 had vulvar and another 3 cervical cancer. Furthermore, clear cell carcinoma was the predominant histology associated with PTH-rP expression. A significant correlation was found between serum calcium and PTH-rP levels. Treatment of hypercalcemia was successful in all cases; pamidronate was utilized in 8 patients. Ovarian cancer patients with severe hypercalcemia and high PTH-rP serum levels had shorter survival compared to their counterparts with mild hypercalcemia or moderately elevated PTH-rP serum levels, but the differences were not statistically significant. Подробнее
Onkologie
Clinical features and treatment of lactational mastitis: the experience from a binational study.
2013
The characteristics of 38 patients with mastitis are listed in this study, including nationality, age, parity, history of mastitis, clinical and laboratory findings, and medical treatment. Differential diagnosis was mainly correlated to breast engorgement. Mastitis was primarily related to staphylococcus aureus and it was more common in primiparous patients. Подробнее
Clinical and experimental obstetrics & gynecology
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
2010
Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH) methods, including centromere-specific multicolor FISH, acrocentric specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor FISH with whole chromosome paint probes. Moreover, uniparental disomy testing was in all cases attempted. From a total of 28,000 pre-natal samples from four diagnostic genetics laboratories in Greece, 23 (0.082%) supernumerary marker chromosomes were detected. The mean maternal age was 36.2 years (range 27-43) and the mean gestational age at which amniocentesis was performed was 18.5 weeks (range 16-23). Eighteen markers were de novo and 5 markers were inherited. Molecular cytogenetic methods were applied to determine the chromosomal origin and composition of the sSMC. In total, 17 markers were derived from acrocentric chromosomes (14, 15, 21 and 22) and 6 markers were non-acrocentric, derived from chromosomes 9, 16, 18, 20 and Y. Uniparental disomy was not detected in any of the cases studied. With regard to pregnancy outcome, 13 pregnancies resulted in normal healthy neonates, while 10 pregnancies were terminated due to ultrasound abnormalities. A total of 23 marker chromosomes from 28,000 pre-natal samples (0.082%) were identified. Molecular cytogenetic techniques provided valuable information on the chromosomal origin and composition of all the sSMCs. Especially in cases with normal ultrasound, the FISH results rendered genetic counseling possible in a category of cases previously considered a diagnostic problem. Abnormal outcome was observed in 10 cases (43,5%), 7 of which showed abnormal ultrasound findings. New technologies, such as array-comparative genomic hybridization, should be used in future genotype-phenotype correlation studies, although the high mosaicism rate poses a problem. Подробнее
Molecular medicine reports
Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings.
2009
Pentasomy 49,XXXXY is a rare sex chromosome polysomy usually diagnosed postnatally by the combina- tion of mental retardation, facial dysmorphism, and genital, cardiac and skeletal malformations. Prenatal detection of 49,XXXXY is unusual and may be incidental due to non-specific ultrasound (US) findings. We report a case of 49,XXXXY diagnosed prenatally and present a literature review of the few prenatally diagnosed cases. Подробнее
Fetal diagnosis and therapy
Spontaneous hepatic rupture during third trimester of pregnancy.
2008
Hepatic rupture is a rare and devastating complication in pregnancy, mainly associated with pre-eclampsia and HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count). It has an incidence of 1 case in 45,000-225,000 births. Nearly 200 cases have been reported in the international literature. We report a case of a hepatic rupture with severe haemorrhage caused by HELLP in a third trimester pregnancy. The case was managed successfully with no pathological complications for either the mother or the infant. The physician should be aware of this condition when dealing with intra-abdominal haemorrhage during pregnancy. Подробнее
Acta chirurgica Belgica
Extragastrointestinal stromal tumor mimicking a uterine tumor. A rare clinical entity.
2008
Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract. These tumors are present in almost all case mutations of KIT-CD117. When located in different places other than the gastrointestinal tract they are called extragastrointestinal stromal tumors (EGISTs). We present the case of a 70-year old patient with abdominal pain. Computed tomography (C/T) and ultrasound (U/S) indicated the existence of a hypoechoic enlarged 9.6 x 10 cm uterus due to leiomyoma. The clinical condition of the patient deteriorated and obtained the characteristics of an acute abdomen. The patient underwent urgent exploratory laparotomy, which revealed the incidental existence of a large tumorous formation in the pouch of Douglas. A total abdominal hysterectomy, bilateral ovarectomy, omentectomy, and tumor resection from the rectouterine pouch were performed. Histology analysis confirmed the diagnosis of a malignant EGIST. EGISTs are infrequent in pelvis. In our case, pelvic EGIST led to an acute pain symptomatology obtaining characteristics of invasive uterine leiomyosarcoma. Pelvic imaging with classical methods of U/S and C/T may lead to confusion and false diagnosis. To the best of our knowledge, this is the first case report about an EGIST located in the rectouterine pouch of Douglas leading to acute abdomen symptomatology. Подробнее
International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
