1/28. Premature closure of foramen ovale and renal vein thrombosis in a stillborn twin homozygous for methylene tetrahydrofolate reductase gene polymorphism: a clinicopathologic case study.Premature closure of the foramen ovale, 4-chamber cardiac hypertrophy, and renal vein/vena cava thrombosis were found at autopsy of a stillborn dizygotic twin at 36 weeks gestational age. review of the original prenatal sonograms showed features suggestive of early closure of the foramen ovale. Homozygosity for the 5, 10 methylene tetrahydrofolate reductase mutation was shown only in the affected twin after the parents were found to be heterozygous for the mutation. The difference in outcome of the twins following prenatal treatment with beta mimetics and corticosteroids for preterm labor may be related to the added susceptibility factor for thromboembolism associated with presumed hyperhomocysteinemia in the proband which was not shared by the surviving healthy twin. The role of premature closure of the foramen ovale and prenatal treatment are discussed but remain uncertain.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
2/28. 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 = 2keywords = susceptibility (Clic here for more details about this article) |
3/28. Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature.Clustering of the bladder exstrophy and epispadias complex (BEEC) has been described in 29 families. To explore the genetic contribution we located new families through the German and Austrian bladder exstrophy Support Group and the association for the bladder exstrophy Community (predominantly US and canada). We report six new families with two occurrences of BEEC, one family where the proband is the product of a consanguineous union, and four discordant twin pairs. In conjunction with the published clinical and epidemiological reports this collection suggests that there is a significant genetic predisposition for susceptibility to the BEEC. It also highlights the importance of self-referral groups for recruiting families for multicenter collaborative research efforts to identify susceptibility loci.- - - - - - - - - - ranking = 2keywords = susceptibility (Clic here for more details about this article) |
4/28. Membranoproliferative glomerulonephritis with partial lipodystrophy: discordant occurrence in identical twins.The course of disease of a patient with membranoproliferative glomerulonephritis and partial lipodystrophy is described. The case is further characterized by a deficiency of C3 and C3- activator, by normal values of C4, by evidence of the nephritogenic factor, by raised fibrin degradation products and by an unselective proteinuria. The course of the glomerulonephritis runs parallel to a pronounced susceptibility to infection (at first varicella, tonsillitis and measles, later pneumonia, meningitis, encephalitis and hepatitis). On account of a nephrotic syndrome and an initative impairment of the renal function, a cytostatic treatment was begun, which although raising the C3 level did not influence the further course of the disease. As the patient has a healthy identical twin sister without lipodystrophy, who shows no reduction in C3 and no nephritogenic factor, this case proves that these diseases are acquired and not genetically determined.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
5/28. Case report of an insulin-dependent diabetes multiplex family with a pair of identical twins.The following is a case of a family with a pair of identical twins and a family history of insulin-dependent diabetes mellitus (IDDM). A 2 year old identical twin was first admitted to our hospital and diagnosed as IDDM based on diabetic ketoacidosis. His father has been treated with insulin since the diagnosis of IDDM at the age of 17. All family members had the HLA-DR4 and DQA1*0301 alleles, which are strongly associated with IDDM. The DR-DQ haplotypes of the father and both twins were DR4-DQW8 (DQB1*0302), which increases susceptibility to IDDM. Islet cell antibodies were positive only in the index twin at the time of diagnosis. The co-twin was considered to have beta-cell dysfunction based on the result of an intravenous glucose tolerance test.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
6/28. Focal myositis in monozygotic twins.Focal myositis is a rare disease with unknown etiology and a broad spectrum. Here, we present two cases in monozygotic twins who complained of recurrent pain of their calves and showed histological signs of inflammation and MRI image compatible with the diagnosis of focal myositis. The occurrence of twin cases not living in the same household suggests a genetic susceptibility to the disease.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
7/28. Transmission of methicillin-resistant staphylococcus aureus to preterm infants through breast milk.OBJECTIVE: To determine a potential source of MRSA colonization and infection among preterm infants in a neonatal intensive care unit (NICU) using molecular analysis of breast milk samples. DESIGN: Case report, outbreak investigation. RESULTS: Preterm triplets were delivered at 26 weeks' gestation via cesarean section when routine active surveillance for MRSA was performed for all infants in a NICU. Surveillance consisted of swabbing the throat, nose, and umbilicus (TNU) weekly. Although infants A and B initially had negative TNU swabs, repeat cultures were positive for MRSA on day of life (DOL) 10 and DOL 18, respectively. Surveillance and clinical cultures for infant C were negative. infant A developed sepsis, and multiple blood cultures were positive for MRSA beginning on DOL 14. infant B developed conjunctivitis and a conjunctival exudate culture was positive for MRSA on DOL 70. Both infants were fed breast milk via nasogastric tube. Cultures of breast milk samples for infants A and B dated prior to either infant's first positive surveillance culture were positive for MRSA. All MRSA isolates had identical results on antibiotic susceptibility testing. PFGE demonstrated identical banding patterns for the MRSA isolates from the blood culture of infant A, breast milk for infants A and B, and a surveillance swab from infant B. At no time did the mother develop evidence of mastitis or other local breast infection. CONCLUSIONS: MRSA can be passed from mother to preterm infant through contaminated breast milk, even in the absence of maternal infection. Colonization and clinical disease can result.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
8/28. Dizygotic twins discordant for early-onset citrobacter koseri and group B streptococcal sepsis.Early-onset neonatal sepsis is usually a multisystem fulminant illness with prominent respiratory symptoms, and typically the infant has acquired the organism from the maternal genital tract during the intrapartum period. In this article, we report a rare case of dizygotic twins where each individual suffered early-onset sepsis caused by a different pathogen. Group B streptococcal (GBS) sepsis was diagnosed in twin A 1 day after birth; sepsis and meningitis caused by citrobacter koseri was diagnosed in twin B at the age of the 4 days. The mother developed pre-eclampsia and fever and the twins were delivered via cesarean section at 35 week's gestation. Twin A received ampicillin treatment for 14 days and recovered fully. Twin B was treated with ceftriaxone for 4 weeks and follow-up brain ultrasound revealed persistent enlargement of the bilateral-lateral ventricles. When empiric antibiotic is considered for the symptomatic twin of a sibling with early-onset GBS infection, samples of blood and cerebrospinal fluid (CSF) should be obtained for culture study before treatment. Adjustment of antibiotic treatment based on the results of cultures and CSF Gram stain and antibiotic susceptibility test is essential.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
9/28. Amp C beta-lactamase-producing escherichia coli in neonatal meningitis: diagnostic and therapeutic challenge.Antibiotic resistance is a global health priority. Major defenses for gram-negative bacteria are beta-lactamase enzymes, which have co-evolved with the development and increasing utilization of new antibiotics. Bacteria harboring the plasmid-mediated AmpC enzymes are increasingly prevalent among adult patients, but have not previously been reported in neonates. Early-onset neonatal meningitis caused by an AmpC beta-lactamase-producing escherichia coli is described for the first time; the plasmid was identified as a transferable CMY-2 family beta-lactamase. Limited experience with newer antibiotics and pharmacokinetics in neonates presents a therapeutic challenge. Currently, there are no Clinical Laboratory Standards Institute (CLSI) recommendations for detecting AmpC nor is the optimal treatment for AmpC-producing organisms known. Thus, it is imperative that clinicians have a high index of suspicion when antimicrobial susceptibility patterns are inconsistent. Development of better microbiology screening tests to rapidly detect resistance is essential. Additionally, pharmacokinetic studies with newer antibiotics in neonates are warranted.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
10/28. Susceptibility to subacute thyroiditis is genetically influenced: familial occurrence in identical twins.Subacute thyroiditis is thought to be virally induced in genetically predisposed individuals because a strong association has been suggested recently between HLA-B35 and patients in whom subacute thyroiditis has developed. Two identical twin brothers were seen at our clinic with the same symptoms and date of onset of hyperthyroidism and enlargement and tenderness of the thyroid, which gave us a unique opportunity to study the genetic predisposition and treatment of this thyroid disease. Diagnostic criteria for subacute thyroiditis were met in both twins, including hyperthyroxinemia, suppression of thyroidal 123I uptake, increased erythrocyte sedimentation rate, transient painful goiter, and absence of antimicrosomal antibodies. Twin B was treated with corticosteroids, and a nonsteroidal anti-inflammatory agent was prescribed for Twin A. The mode of treatment used did not make a difference in affecting the course of the disease. The erythrocyte sedimentation rate was normal after 2 months from onset of symptoms. Results of viral studies were inconclusive. The same HLA typing was found in each twin: A3, B18, B35, Cw4, DR2, DRw10, DQw1. Thus, each was heterozygous for HLA-B35. We reviewed the literature and found a strong association between HLA-B35 and subacute thyroiditis in various ethnic groups tested. Our experience with these identical twins provides additional evidence to suggest that HLA-35 and perhaps Cw4 confer genetic susceptibility in acquiring subacute painful thyroiditis in a possible dominant mode of inheritance.- - - - - - - - - - ranking = 1keywords = susceptibility (Clic here for more details about this article) |
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