1/29. poland's syndrome in one identical twin.female twins were evaluated at the Shriners Hospital in Lexington, kentucky. One twin was normal, and the other twin had the classic findings of poland's syndrome, manifested by absence of the pectoralis major and symbrachydactyly of the right upper extremity. Buccal smears from each child were submitted for dna testing. The test confirmed monozygosity with 99.9% probability. Some previous reports have stated that poland's syndrome is an autosomal dominant, genetically determined trait, whereas others have maintained that there is no genetic association. The original case described by poland in 1841 was his cadaver, and no family history was reported. This twin study provides strong evidence that the condition is not determined by gene transmission.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
2/29. Intermediate uveitis of pars planitis type in identical twins. Report of a case.The occurrence of intermediate uveitis in monozygotic twins has rarely been reported in literature. We report the occurrence of this disease condition in identical twins. Twin sisters presented with typical features of intermediate uveitis, which appeared three years earlier in one of the sisters. They were treated with posterior subtenon injection of triamcinolone acetonide and recovered well. Systemic evaluation and laboratory investigations did not reveal any etiology. Cytogenetic high-resolution analysis did not reveal any chromosomal abnormalities. pedigree analysis revealed no specific transmission pattern. No other family members in three generations had similar ocular disease. Our report indicates that a detailed family history should be taken in intermediate uveitis and examination of other siblings of patients with intermediate uveitis should be performed.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
3/29. Dominant transmission of imperforate hymen.OBJECTIVE: Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported. DESIGN: Case report. SETTING: Academic medical center. PATIENT(S): Three affected family members. MAIN OUTCOME MEASURE(S): karyotype and pedigree analysis. RESULT(S): The proband, presenting with peritonitis, was evaluated at age 12 for imperforate hymen because this condition was diagnosed in her mother at age 14. At age 14, the mother's monozygotic twin was asymptomatic except for primary amenorrhea and was also demonstrated to have imperforate hymen. No other reproductive system abnormalities were known to be present in the remaining family members. Chromosomal structural analysis confirmed that the mother of the proband had no chromosomal abnormalities. CONCLUSION(S): The occurrence of imperforate hymen in two consecutive generations of a family is consistent with a dominant mode of transmission, either sex-linked or autosomal. Previously reported examples of siblings with imperforate hymen suggested a recessive mode of inheritance. Taken together, these cases suggest that imperforate hymen can be caused by mutations in several genes. This case highlights the importance of evaluating all family members of affected patients. Familial examples of other developmental anomalies of the female reproductive tract also suggest a multifactorial genetic etiology.- - - - - - - - - - ranking = 5keywords = transmission (Clic here for more details about this article) |
4/29. The potential utility of the Semi-Nested Multiplex PCR technique for the diagnosis and investigation of congenital malaria.We report three cases of congenital malaria involving two malarial immune mothers living in spain. Diagnostic PCR and Genotyping PCR for merozoite surface proteins 1 and 2 were essential to show that mothers and new-borns had different plasmodium population parasites at the moment of the delivery, and that the infection was acquired earlier in gestation by transplacental transmission. In the first case the plasmodium species founded in both, mother and child were different. malaria in the twins showed a mixed infection (P. falciparum plus P. malariae) while the mother presented a P. falciparum infection. These facts were confirmed studying the polymorphisms for MSP1 and MSP2. blood samples of the newborns were analyzed an half hour after delivery excluding the possibility of re-infection by mosquito bite and indicating a vertical transmission during pregnancy.- - - - - - - - - - ranking = 2keywords = transmission (Clic here for more details about this article) |
5/29. Cluster of candida parapsilosis primary bloodstream infection in a neonatal intensive care unit.candida parapsilosis is an increasingly important bloodstream pathogen in neonatal intensive care units (NICU). We investigated a cluster of bloodstream infections in a NICU to determine whether nosocomial transmission occurred. During a 3-day period, 3 premature infants hospitalized in the same unit presented with sepsis caused by C. parapsilosis. Electrophoretic karyotype of the organisms was performed by using pulsed field gel electrophoresis in a countour-clamped homogeneous electric field system. The isolate from 1 newborn could not be typed, and the isolates from the remaining 2 infants had identical patterns. All 3 cases are described. We conclude that nosocomial transmission of C. parapsilosis occurred and that neonates under intensive care may represent a risk group for this pathogen.- - - - - - - - - - ranking = 2keywords = transmission (Clic here for more details about this article) |
6/29. Late-onset and recurrent neonatal Group B streptococcal disease associated with breast-milk transmission.The purpose of the study was to determine the epidemiological relationships in three unrelated cases of neonatal late-onset Group B streptococcal (GBS) disease and maternal breast-milk infection with GBS. All deliveries were by cesarean section; case 1 was at term, and cases 2 and 3 were at 32- and 33-wk gestation, respectively. Case 1 relates to a mother with clinical mastitis and recurrent GBS infection in a 20-day-old male infant. Following antibiotic therapy and cessation of breast-feeding, the infant recovered without sequelae. Case 2 refers to a mother with clinical mastitis and the occurrence of late-onset GBS disease in 5-wk-old male twins. Despite intervention, one infant died and the second became ill. Following antibiotic therapy and cessation of breast-feeding, the surviving infant recovered without sequelae. Case 3 refers to a mother with sub-clinical mastitis and late-onset GBS infection occurring in a 6-day-old female twin. Following intervention, the infant recovered but suffered a bilateral thalamic infarction resulting in developmental delay and a severe seizure disorder. Following recovery of GBS from an inapparent mastitis and cessation of breast-feeding, the second infant remained well. blood cultures from all affected infants and maternal breast milk were positive for GBS. Epidemiological relationships between neonatal- and maternal-derived GBS isolates were confirmed by a random amplified polymorphic dna polymerase chain reaction assay (RAPD-PCR). This study is significant in that it has demonstrated that maternal milk (in cases of either clinical or sub-clinical mastitis) can be a potential source of infection resulting in either late-onset or recurrent neonatal GBS disease.- - - - - - - - - - ranking = 4keywords = transmission (Clic here for more details about this article) |
7/29. Distal foregut atresias in consecutive siblings and twins in the same family.The distal foregut comprises the antrum of the stomach and supra-ampullary region of the duodenum. In this part of the gut, intraluminal mucosal diaphragms, webs, membranes (type I), and rarely solid cord (type II) atresias are occasionally seen in clinical practice. Due to increased awareness, the number of reported cases has increased in recent years. These foregut lesions are known to have a strong genetic association. Both antral (AA) and duodenal atresias (DA) may occur as potentially curable sporadic cases or in combination with lethal malformations such as hereditary multiple gastrointestinal atresias affecting the fore-, mid-, and hindgut. The association of AA and junctional epidermolysis bullosa lethalis is well-known. We describe an unusual occurrence of foregut atresias in two consecutive siblings and a pair of monozygous twins. The involvement of four siblings in a single family is extraordinary and as yet unreported. This cluster of cases not only lends a strong support to a genetic origin, but also the mode of transmission, despite the absence of a history of consanguinity. It indicates that atresia of the gastric antrum and supra-ampullary DA are etiologically closely related. It is also possible that the discordant expression in the twins could be a pleiotropic effect of the same genetic factor. Attempts are made to explain the possible pathogenesis of this unusual atresia and relate it to other associated anomalies.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
8/29. Transmission of salmonella enterica serotype typhimurium DT104 to infants through mother's breast milk.This study documents the first reported transmission of salmonella enterica serotype Typhimurium definitive type 104 (DT104) to premature fraternal twins via their mother's breast milk. When premature twin neonates developed severe enteritis in the neonatal intensive care unit (NICU), stool samples and the mother's breast milk were cultured for the presence of SALMONELLA: Antibacterial susceptibility patterns were determined. Semiquantitative organism abundance data were retrospectively gathered on 54 stored breast milk samples collected on 34 different days using a rapid, real-time polymerase chain reaction (PCR) methodology (LightCycler PCR). Fecal samples from other infants in the NICU at that time were also tested. Pulsed-field gel electrophoresis (PFGE) was used to assess the genetic composition of the isolated organisms. The twins' neonatal stools and mother's breast milk cultures revealed a resistance pattern (R-type) to ampicillin, chloramphenicol, streptomycin, sulfonamides, and tetracycline. LightCycler PCR analysis of sequential breast milk samples confirmed this to be the likely source of transmission. In the subsequent outbreak investigation, none of the NICU surveillance fecal samples proved positive for this organism. The genetic composition of organisms isolated from the maternal breast milk was indistinguishable from those isolated from neonatal specimens as determined by PFGE. Antibiotic susceptibility tests coupled with PFGE patterns suggested that these Salmonella isolates were DT104. Because the prevalence of DT104 infections is rising in the united states, neonatologists should be aware of breast milk as a potential mode of transmission.- - - - - - - - - - ranking = 3keywords = transmission (Clic here for more details about this article) |
9/29. Atrial myxoma in a family.A family is described in which the mother and three of seven children had atrial myxoma. The mother had biatrial myxoma; surgical treatment resulted in massive intraoperative embolization and death. Surgery was sucessful in two sons with left atrial myxoma and systemic arterial embolization. A third son had calcified right atrial myxoma with destruction of the tricuspid valve and episodes of syncope and pulmonary embolism; surgery including valve replacement, was successful. The mother's father and a brother had died suddenly without a definite diagnosis. The family data are consistent with dominant transmission. The possibility of finding affected relatives should be borne in mind when studying patients with atrial myxoma.- - - - - - - - - - ranking = 1keywords = transmission (Clic here for more details about this article) |
10/29. Differential transmission of parvovirus B19 in a twin gestation: a case report.Maternal infection with parvovirus B19 during pregnancy can cause aplastic anemia in the fetus. Severe anemia may lead to nonimmune hydrops or fetal demise. In the case reported, the demise of one twin was diagnosed by ultrasonography in an asymptomatic 21-year-old para 1-0-2-1 African American at the gestational age of 25 weeks. The deceased twin (A) was grossly hydropic with anasarca, ascites, pleural and pericardial effusions, and a thickened placenta. parvovirus B19 dna was found in the amniotic fluid of Twin A using the polymerase chain-reaction technique. Serial scans of Twin B showed normal growth and no evidence of hydrops. The pregnancy was managed expectantly until 29 weeks when delivery was indicated by maternal disseminated intravascular coagulation. Maternal IgM antiparvovirus B19 antibodies were detected at the time of delivery. Antiparvovirus B19 IgM antibodies were not present in Twin B. These serologic studies suggest a recent acute maternal infection and refute such an infection in Twin B. We present a case of differential transmission of parvovirus B19 in a twin pregnancy with in utero death of the infected twin and subsequent maternal disseminated intravascular coagulation.- - - - - - - - - - ranking = 5keywords = transmission (Clic here for more details about this article) |
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