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1.
Fukushima J Med Sci ; 68(1): 57-61, 2022 Apr 08.
Article in English | MEDLINE | ID: mdl-35314525

ABSTRACT

A tubo-ovarian abscess is an infection that occurs as a sequela of pelvic inflammatory disease. There is no reported association between a tubo-ovarian abscess and cri du chat syndrome in the medical literature. Herein, we report the case of a 44-year-old woman with cri du chat syndrome who was subsequently diagnosed with a tubo-ovarian abscess. After emergent laparotomy, simple total hysterectomy, and bilateral adnexectomy, the patient was discharged 13 days postoperatively without complications.


Subject(s)
Cri-du-Chat Syndrome , Abscess/complications , Abscess/diagnosis , Adult , Cri-du-Chat Syndrome/complications , Female , Humans , Hysterectomy/adverse effects
2.
J Pediatr Endocrinol Metab ; 26(1-2): 77-84, 2013.
Article in English | MEDLINE | ID: mdl-23329746

ABSTRACT

BACKGROUND: Although glucocorticoid hormones play important roles in fetal development, the expression of their receptors in the whole blood of preterm infants remains unknown. OBJECTIVES: The aim of this study was to investigate the levels of glucocorticoid receptor (GR) α and ß in the whole blood of preterm and term infants. STUDY DESIGN: The study group consisted of 131 infants, of which 54 (41%) were preterm. Whole blood from preterm and term infants was analyzed by real-time PCR to monitor the levels of each receptor mRNA. RESULTS: GRß mRNA were detected in 96.6% and GRα mRNA in 100% of participants. The GRα and GRß isoforms were detected at a ratio of 1:0.0002. GRß mRNA/GAPDH expression in preterm infants was significantly higher than that in term infants (p=0.002). There was significant correlation between GRα/GRß ratio and birth weight in preterm infants (rs=0.317, p=0.019), as well as between GRß/GAPDH expression and birth weight (rs=-0.296, p=0.030). Furthermore, in preterm infants, GRß/GAPDH expression was higher in those with SGA than in those without SGA (p=0.022). CONCLUSION: Importantly, in preterm infants, both the expression of GRß and the GRα/GRß ratio were associated with birth weight. Further studies with larger populations are necessary to determine the relation between the expression of GR and the clinical relevance of preterm infants.


Subject(s)
Infant, Premature/blood , Receptors, Glucocorticoid/blood , Adult , Case-Control Studies , Female , Gene Expression/physiology , Humans , Infant, Newborn , Infant, Premature/metabolism , Male , Parturition/blood , Parturition/genetics , Parturition/metabolism , Pregnancy , Receptors, Glucocorticoid/genetics , Receptors, Glucocorticoid/metabolism , Term Birth/blood , Term Birth/genetics , Term Birth/metabolism , Young Adult
3.
J Matern Fetal Neonatal Med ; 24(11): 1312-6, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21381879

ABSTRACT

OBJECTIVE: To examine the expression levels of glucocorticoid receptor (GR) isoforms in peripheral blood mononuclear cells (PBMCs) and serum cortisol levels in cord blood from term infants. METHODS: The study population consisted of 172 term infants who were delivered from healthy pregnant women. GRalpha and GRbeta expression levels, and serum cortisol level in cord blood were determined by real-time PCR and ELISA, respectively. RESULTS: Detection rates of GRalpha, GRbeta, and GAPDH were 100%, 63.4%, and 100%, respectively. The expression level of GRalpha was about 200 times that of GRbeta. There were no associations between GR expression level and clinical variables. There were significant associations of low UmApH, maternal gravidity or parity, and vaginal delivery with a high cortisol level; however, there were no correlations between GR expression levels and cortisol level. CONCLUSIONS: It is considered that glucocorticoid effects could be expected from the fetal period to the neonatal period, because GRalpha expression level was not related to perinatal factors, GRbeta expression level, and cortisol level in term infants. Further studies of larger populations including very preterm and small for gestational age infants are necessary to determine the balance of expression between GRalpha and GRbeta, and cortisol level.


Subject(s)
Fetal Blood/chemistry , Hydrocortisone/blood , Receptors, Glucocorticoid/blood , Adolescent , Adult , Enzyme-Linked Immunosorbent Assay , Female , Fetal Blood/cytology , Gene Expression , Gestational Age , Glyceraldehyde-3-Phosphate Dehydrogenases/blood , Glyceraldehyde-3-Phosphate Dehydrogenases/genetics , Humans , Infant, Newborn , Leukocytes, Mononuclear/chemistry , Male , Pregnancy , Real-Time Polymerase Chain Reaction , Receptors, Glucocorticoid/genetics
4.
Transfusion ; 50(3): 693-700, 2010 Mar.
Article in English | MEDLINE | ID: mdl-19912584

ABSTRACT

BACKGROUND: Screening blood donors for hepatitis C virus (HCV) antibody has effectively mitigated transfusion transmission of HCV. We conducted a post hoc analysis to clarify the impact of donor screening on a general population of reproductive-age females and their offspring. STUDY DESIGN AND METHODS: Anti-HCV screening in Japan started in late-1989. In a cohort studied between May 1990 and November 2004, a total of 22,664 consecutive serum samples from pregnant women were screened for anti-HCV. Reactive samples were further tested for HCV RNA. Linear structural regression was applied to identify causal relationships. RESULTS: Anti-HCV-reactive rates declined significantly by two measures. First, among women known to have been transfused, rates fell from 14.8% to 3.1% with the implementation of anti-HCV screening (p < 0.01). Nevertheless, this is 10 times higher than the 0.3% reactive rate seen in a similar cohort of nontransfused women. Second, rates fell from 1.8% among women born in 1955 or before to 0.3% for women born in 1966 or later (p < 0.01). Among 103 anti-HCV-reactive women, 31 (30%) had been transfused and another 17 (17%) had other identifiable risk factors. The remaining 55 (53%) had no clear risk factor. Blood transfusion accounted for 19% of anti-HCV acquisition, by path analysis. Only one infant in this cohort was vertically infected with HCV. CONCLUSION: Anti-HCV screening of donated blood and hygienic improvements have markedly decreased HCV infection of pregnant women with a transfusion history; however, 70% of anti-HCV-reactive women were deemed to be infected via routes other than transfusion.


Subject(s)
Blood Donors , Donor Selection , Hepacivirus , Hepatitis C/blood , Hepatitis C/epidemiology , RNA, Viral/blood , Cohort Studies , Female , Humans , Japan/epidemiology , Pregnancy/blood , Pregnancy Complications, Infectious/blood , Pregnancy Complications, Infectious/epidemiology , Prevalence
6.
J Hum Genet ; 52(4): 349-354, 2007.
Article in English | MEDLINE | ID: mdl-17310273

ABSTRACT

Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and conventional laboratory tests alone. Enzymatic or genetic diagnoses have also been hampered by difficult access to the appropriate organ and the large size of the gene (38 exons). In this study, in order to address this diagnostic dilemma, we performed the largest mutational and clinical analyses of this disorder to date in Japan. Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D. In total, 25 different mutations were identified, of which 19 were novel. Interestingly, in contrast to previous reports suggesting an extremely diverse mutational spectrum, 31.8% of the mutations identified in Japanese were common to more than one family. We also identified two common polymorphisms that might be useful for simple linkage analysis in prenatal diagnosis. The accumulated clinical data will also help to reveal the clinical presentation of this rare disorder in Japan.


Subject(s)
Carbamoyl-Phosphate Synthase (Ammonia)/genetics , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis , Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics , Asian People/genetics , Carbamoyl-Phosphate Synthase (Ammonia)/chemistry , DNA Mutational Analysis , Female , Humans , Japan , Male , Mutation , Polymorphism, Genetic
7.
Pediatr Int ; 47(3): 278-85, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15910451

ABSTRACT

BACKGROUND: There is little data on the evolution of hepatitis C virus (HCV) quasispecies in infants infected by mother-to-infant transmission during long-term follow up. The hypervariable region 1 (HVR1) of the HCV genome was investigated in two mother-infant pairs from birth to 7.6 and 10.2 years, respectively. METHODS: Ten cDNA clones of HVR1 generated from HCV-RNA and extracted from serum samples of both pairs were analyzed. The sequences were compared with regard to variability, identity, and hydrophobia profile, and analyzed by phylogenetic studies. RESULTS: The alanine aminotransferase (ALT) level was high with fluctuation in infant A and almost within the normal range in infant B. Sequence diversity was higher in infant A at 7.6 years than in infant B at 9.3 years (sequence identity with the mothers'; 69.3-70.7% vs 85.3-90.7% for nucleotides, and 48% vs 68-72% for amino acids, respectively). Compared to the first samples, amino acid changes greatly increased in infant A (35.2% at 4.9 years and 52% at 7.6 years), but not in infant B (4% at 5.6 years and 27.5% at 9.3 years). Phylogenetic studies revealed that quasispecies in infant A evolved to a greater extent than that in infant B. Hydrophobia profile analyses revealed that dynamic shifts between hydrophilia and hydrophobia occurred in both infants. CONCLUSIONS: As in adults, the evolution of HVR1 and variability of quasispecies increased in infants infected through mother-to-infant transmission for 10 years after birth. A large episode of ALT elevation suggested the emergence of escape mutants and the evolution of new quasispecies.


Subject(s)
Hepacivirus/genetics , Hepatitis C/transmission , Infectious Disease Transmission, Vertical , Alanine Transaminase/blood , Base Sequence , Child , Child, Preschool , Complementarity Determining Regions/genetics , Evolution, Molecular , Female , Follow-Up Studies , Hepatitis C/virology , Humans , Infant , Male , Phylogeny , RNA, Viral , Reverse Transcriptase Polymerase Chain Reaction , Time Factors
8.
Masui ; 52(11): 1224-6, 2003 Nov.
Article in Japanese | MEDLINE | ID: mdl-14661573

ABSTRACT

A 52-year-old woman underwent vascular access surgery under brachial plexus block of the left arm. After the surgery, the patient complained of painful and burning sensation and motor disturbance of her forearm without muscle necrosis. We administered ketamine to treat the symptoms as neuropathic pain arising as a complication of brachial plexus nerve block. Six days after operation, angiography showed little blood flow at distal portion of the shunt. We recognized ischemia induced monomeric neuropathy. Immediately after the occlusion of the vascular access, the pain disappeared but not sensory and motor disturbances. Our experience suggests that angiography is helpful for diagnosis of ischemia-induced neuropathy after vascular access surgery.


Subject(s)
Arteriovenous Shunt, Surgical/adverse effects , Brachial Plexus , Nerve Block/adverse effects , Peripheral Nervous System Diseases/etiology , Female , Forearm/blood supply , Forearm/innervation , Humans , Ischemia/etiology , Middle Aged , Peripheral Nerves/blood supply
9.
Transfusion ; 43(5): 663-7, 2003 May.
Article in English | MEDLINE | ID: mdl-12702191

ABSTRACT

BACKGROUND: Although low-birth-weight infants (LBWI) often receive multiple transfusions, there is controversial information on their development of antibodies against WBCs or platelets. STUDY DESIGN AND METHODS: A total of 52 LBWI with birth weights less than 1500 g were randomly assigned to receive either RBCs that had been WBC- reduced (n = 25) or nonfiltered blood (n = 27). Serum samples collected from 37 infants at 3 months of age and from 30 children when they were 5 to 11 years old were tested. Anti-HLA was assayed with an anti-human globulin-augmented lymphocytotoxicity test against a panel consisting of 13 lymphocytes and against parental cells. RESULTS: None of 52 transfused LBWI of either group developed anti-HLA (95% CI, 0%-6.8% for overall, 0%-13.7% for the WBC-reduced group, and 0%-12.7% for the nonfiltered group). CONCLUSION: Multiply transfused LBWI rarely produced antibodies to HLA of blood donors and to noninherited maternal antigens. The benefits of WBC reduction to prevent HLA alloimmunization during infancy were not supported by this study and need further investigation.


Subject(s)
Blood Transfusion , HLA Antigens/immunology , Infant, Premature/immunology , Isoantibodies/analysis , Child , Cytotoxicity Tests, Immunologic , Humans , Infant , Infant, Low Birth Weight , Infant, Newborn , Leukapheresis
10.
Masui ; 51(10): 1111-3, 2002 Oct.
Article in Japanese | MEDLINE | ID: mdl-12428316

ABSTRACT

A 68-year-old patient was scheduled for subtotal gastrectomy. Preoperative examination showed heart rate of 30-40 beats.min-1 caused by secondary hypothyroidism. Triiodothyronine and thyroid stimulating hormone concentrations were 1.9 pg.ml-1 and 0.17 microU.ml-1 respectively. To treat bradycardia, the patient was given isoproterenol hydrochloride (ISP: 0.01-0.03 microgram.kg-1.hr-1) for 5 days before surgery. Heart rate recovered to 70-80 beats.min-1, and the dosage could be tapered off before surgery without return of bradycardia. The operation was performed successfully under general anesthesia. We reported the anesthetic management of this patient with severe bradycardia due to secondary hypothyroidism. This case suggests that preoperative treatment for the symptoms is important for anesthetic management of a patient with hypothyroidism.


Subject(s)
Anesthesia, General/methods , Bradycardia/etiology , Hypothyroidism/complications , Aged , Bradycardia/drug therapy , Gastrectomy , Heart Rate , Humans , Isoproterenol/administration & dosage , Male
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