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twin to twin syndrome

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https://www.readbyqxmd.com/read/28637222/risk-factors-for-the-development-of-delayed-tsh-elevation-in-neonatal-intensive-care-unit-nicu-newborns
#1
Amnon Zung, Rachel Bier Palmon, Agneta Golan, Mara Troitzky, Smadar Eventov-Friedman, Ronella Marom, Rimona Keidar, Neri Kats, Shlomo Almashanu, Orna Flidel-Rimon
Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen (following normal TSH in the initial screen) in premature, low-birth-weight and sick newborns, mostly in the neonatal intensive care unit (NICU) setting. The pathogenesis of dTSH is elusive. Objective: To identify risk factors for dTSH development among newborns in the NICU. Design: setting and patients: A retrospective chart review of neonates with dTSH was conducted in eight university-affiliated NICUs...
June 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28631899/dual-molecular-diagnosis-contributes-to-atypical-prader-willi-phenotype-in-monozygotic-twins
#2
Fernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, Rafaella X Pietra, Fernando V M Rubatino, Natália V Carobin, Gabrielle S Vianna, Mariana L de Freitas, Karla S Fernandes, Beatriz S V Ribeiro, Hennie T Brüggenwirth, Roza Ali-Amin, Janson J White, Zeynep C Akdemir, Shalini N Jhangiani, Richard A Gibbs, James R Lupski, Monica C Varela, Célia Koiffmann, Carla Rosenberg, Cláudia M B Carvalho
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#3
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28602111/genetics-of-polycystic-ovary-syndrome
#4
Kateryna Mykhalchenko, Daria Lizneva, Tatiana Trofimova, Walidah Walker, Larisa Suturina, Michael P Diamond, Ricardo Azziz
Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies...
July 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28598116/-optimal-ovulation-induction-in-polycystic-ovary-syndrome-resistant-to-clomiphene-citrate-or-letrozole
#5
Ying Chen, Dan Zhang
OBJECTIVES: To investigate the optimal ovulation induction with the combination of combining letrozole(LE),clomiphene citrate (CC),and human menopausal gonadotropin (HMG) in polycystic ovary syndrome(PCOS) patients resistant to CC or LE. METHODS: Two hundreds nine PCOS patients (209 cycles) resistant to CC or LE were randomly divided into three groups: CC+HMG group (59 cycles),LE+HMG group (72 cycles) and LE+CC group (78 cycles).The patients in LE+CC group unable to form the dominant follicle after 54 cycles were enrolled into LE+CC+HMG group...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28593773/-hellp-syndrome-requiring-therapeutic-plasma-exchange-due-to-progression-to-multiple-organ-dysfunction-syndrome-with-predominant-encephalopathy-respiratory-and-renal-insufficiency
#6
M Trávniková, J Gumulec, Z Kořístek, M Navrátil, M Janáč, J Pelková, P Šuráň, E Doležálková, O Šimetka
OBJECTIVE: Case report of woman with twin pregnancy complicated by HELLP syndrome which progressed to multiple organ dysfunction syndrome with predominant encephalopathy, renal and respiratory insufficiency with the need to perform repeated therapeutic plasma exchange. DESIGN: Case report. SETTING: Department of gynecology and obstetrics, University Hospital in Ostrava; Departmet of hematooncology, University Hospital in Ostrava; Department of gynecology and obstetrics, Vsetín hospital; Department of hematology and transfusion, Vsetín Hospital...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28593771/-rare-forms-of-feto-fetal-transfusion-in-a-clinical-practice
#7
H Kováčová, D Matura, O Šimetka, J Pannová, P Delongová
OBJECTIVE: To analyze monochorionic twin pregnancies with twin anemia polycythemia sequence (TAPS) and acute peripartal twin to twin syndrome (aTTTS), to compare their prenatal management and perinatal outcome. METHODS: Retrospective analysis of monochorionic biamniotic twin pregnancies without signs of chronic TTTS within a period 10/2010 to 10/2013. Further selection of cases with haemoglobin difference in neonates greater than 50 g/l was made, type of feto-fetal haemorrhage was determined and their prenatal and postnatal characteristics were described...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28591652/fetal-therapy-model-of-myelomeningocele-with-three-dimensional-skin-using-amniotic-fluid-cell-derived-induced-pluripotent-stem-cells
#8
Kazuhiro Kajiwara, Tomohiro Tanemoto, Seiji Wada, Jurii Karibe, Norimasa Ihara, Yu Ikemoto, Tomoyuki Kawasaki, Yoshie Oishi, Osamu Samura, Kohji Okamura, Shuji Takada, Hidenori Akutsu, Haruhiko Sago, Aikou Okamoto, Akihiro Umezawa
Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I...
June 6, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28588850/case-report-of-myometrial-window-following-fetoscopic-treatment-of-twin-twin-transfusion-syndrome-indications-of-underlying-collagen-vascular-disease
#9
Michael V Zaretsky, David K Manchester, Henry L Galan, Nicholas J Behrendt, Ahmed I Marwan, Kenneth W Liechty, Timothy M Crombleholme
Intraperitoneal amniotic fluid leak is a known complication of fetoscopic procedures that usually resolves spontaneously with expectant management. Intraperitoneal amniotic fluid leak may persist after fetoscopic procedures due to a myometrial window as well as to persistent chorioamniotic membrane disruption, which may be amenable to surgical repair.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28585788/-intestinal-complications-in-twin-to-twin-transfusion-syndrome-ttts-treated-by-laser-coagulation-lc
#10
A Sánchez-Galán, J L Encinas, E Antolín, A Vilanova, M Dore, P Triana, J L Bartha, M López-Santamaría
AIM OF THE STUDY: The hemodynamic imbalance due to placental vascular anastomoses in TTTS but also vascular changes generated after intrauterine treatment may lead to hypoxic-ischemic complications. Different intestinal complications in TTTS are reviewed in this paper. METHODS: Retrospective review of TTTS cases treated by laser coagulation (LC) from 2012-2015. Demographic data, fetal therapy, prenatal diagnosis (US, MRI) and perinatal outcome were recorded. We describe cases with intestinal complications and their postnatal management...
January 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28583924/congenital-hypofibrinogenaemia-a-presymptomatic-detection-of-an-extremely-rare-bleeding-disorder-in-preterm-twins
#11
Catherine Mary Breen, Muhammad I Riazat, Naomi McCallion, Michael A Boyle
Twenty-eight-week-old preterm monochorionic-diamniotic twins were admitted to the neonatal intensive care unit secondary to low birth weight and mild respiratory distress syndrome. A low fibrinogen level of less than 0.5 g/L was detected following an abnormal full blood count. They required fibrinogen transfusions until 32 weeks corrected gestation to maintain adequate fibrinogen levels. Parental screening revealed that their mother had a previously undiagnosed hypofibrinogenaemia. Of note, her only symptom was menorrhagia...
June 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28583780/-nephrogenic-syndrome-of-inappropriate-antidiuresis-early-diagnosis-avoids-severe-hyponatremia-complications
#12
A Cailleaux, F Mahieu, C Heinrichs, B Adams, K Ismaili, C Brachet
AIM: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare disease characterized by a kidney disability to dilute urine and, as a result, severe recurrent hyponatremia. Due to wide variability in clinical expression, the diagnosis still remains a challenge for clinicians. We report our experience of a case in which NSIAD was diagnosed early. We also stress the importance of early diagnosis and treatment, which protects an infant with NSAID from severe hyponatremia. BACKGROUND: A 1-month-old boy was referred to our hospital for persistent hyponatremia and intense vomiting...
June 2, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28581026/cross-sectional-association-between-testosterone-sex-hormone-binding-globulin-and-metabolic-syndrome-the-healthy-twin-study
#13
Heesun Moon, Inyoung Choi, Somi Kim, Hyeonyoung Ko, Jinyoung Shin, Kayoung Lee, Joohon Sung, Yun-Mi Song
OBJECTIVES: This study evaluated an association between testosterone, sex hormone-binding globulin (SHBG) and metabolic syndrome (MetS).We also evaluated the genetic and environmental influence on the association. DESIGN: Cross-sectional. SETTING: Community-based study. PARTICIPANTS: A total of 1,098 Korean adult men including 139 monozygotic twin pairs. MAIN OUTCOME MEASURE: MetS was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (NCEP-ATP III) and International Diabetes Federation (IDF) criteria...
June 5, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28571031/perimortem-demonstration-and-treatment-of-recipient-to-donor-transfusion-in-monochorionic-diamniotic-twin-gestation
#14
Jessica Parrott, Tricia Schwartz, Tracy Cowles, Marium Holland, Carl P Weiner
Twin-twin transfusion syndrome is a complication of monochorionic-diamniotic placentation. Should one twin die, ≈30% of co-twins will also die, and if they survive, ≈30% experience severe morbidity rates, each believed secondary to hemorrhage of the co-twin into the deceased twin. We report apparently the first ultrasound-documented case of perimortem hemorrhage in twin-twin transfusion syndrome and its treatment by emergent ultrasound-guided percutaneous cord occlusion followed by percutaneous fetal intravascular transfusion...
June 2, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28557152/quantified-discordant-placental-echogenicity-in-twin-anemia-polycythemia-sequence-taps-and-middle-cerebral-artery-peak-systolic-velocities
#15
Christian Bamberg, Anke Diemert, Peter Glosemeyer, Kurt Hecher
OBJECTIVE: To quantify sonographic placental echogenicity in twin anemia-polycythemia sequence (TAPS) and to correlate it with middle cerebral artery peak systolic velocities (MCA-PSV). METHODS: We performed a retrospective search for consecutive TAPS cases between 16 and 36 weeks of gestation (MCA-PSV >1.5 MoM and <1.0 MoM in the anemic donor and polycythemic recipient, respectively) in our database of monochorionic twin gestations from January 2007 until December 2016...
May 27, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28553148/severe-preeclampsia-and-eclampsia-incidence-complications-and-perinatal-outcomes-at-a-low-resource-setting-mpilo-central-hospital-bulawayo-zimbabwe
#16
Solwayo Ngwenya
BACKGROUND: Severe preeclampsia is a disorder of pregnancy characterized by high blood pressure and significant proteinuria after 20 weeks gestation. Severe preeclampsia and eclampsia have considerable adverse impacts on maternal, fetal, and neonatal health especially in low-resource countries. Hypertensive disorders of pregnancy are the third leading cause of maternal deaths in Sub-Saharan Africa. Significant avoidable maternal and neonatal morbidity and mortality may result. OBJECTIVES: This study aimed 1) to determine the incidence of severe preeclampsia/eclampsia in a low-resource setting; 2) to determine the maternal complications of severe preeclampsia/eclampsia in a low-resource setting; 3) to determine the perinatal outcomes of severe preeclampsia/eclampsia in a low-resource setting...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28549467/the-prediction-diagnosis-and-management-of-complications-in-monochorionic-twin-pregnancies-the-ommit-optimal-management-of-monochorionic-twins-study
#17
Fiona L Mackie, R Katie Morris, Mark D Kilby
BACKGROUND: Monochorionic twin pregnancies are at increased risk of complications due to sharing a single placenta and potentially developing unbalanced vascular anastomoses. Complications include twin-twin transfusion syndrome (TTTS) which affects 10-15% monochorionic twins, and if untreated has a 70-90% perinatal loss rate. We are currently unable to predict which twins will develop complications or to what severity. We have previously shown differences in angiogenic and placental growth factors in maternal blood in pregnancies complicated by TTTS compared to twin pregnancies not complicated by TTTS but matched for gestation...
May 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28544517/fetoscopic-laser-photocoagulation-for-amniotic-fluid-discordance-bordering-on-twin-twin-transfusion-syndrome-feasibility-perinatal-and-long-term-outcomes
#18
Katsusuke Ozawa, Rika Sugibayashi, Seiji Wada, Masahiro Sumie, Keisuke Ishii, Masahiko Nakata, Takeshi Murakoshi, Yushi Ito, Haruhiko Sago
AIM: This study investigated the feasibility and safety of fetoscopic laser photocoagulation (FLP) for amniotic fluid discordance (AFD) bordering on twin-twin transfusion syndrome (TTTS) with an absent or reverse end-diastolic velocity (AREDV) in the umbilical artery (UA), and evaluated the perinatal and long-term outcomes. METHODS: A prospective intervention study was performed between 20 + 0 and 25 + 6 weeks of gestation (UMIN000004165). AFD bordering on TTTS was defined as maximum vertical pocket (MVP) of amniotic fluid in one twin's sac ≤3 cm and amniotic fluid MVP in the other twin's sac ≥7 cm excluding TTTS...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28543958/latent-structure-of-negative-valence-measures-in-childhood
#19
Minyoung Lee, Steven H Aggen, Dever M Carney, Shannon Hahn, Elizabeth Moroney, Laura Machlin, Melissa A Brotman, Kenneth E Towbin, Ellen Leibenluft, Daniel S Pine, Roxann Roberson-Nay, John M Hettema
BACKGROUND: Internalizing disorders (IDs), consisting of the syndromes of anxiety and depression, are common, debilitating conditions often having onsets in adolescence. Scientists have developed dimensional self-report instruments that assess putative negative valence system (NVS) trait-like constructs as complimentary phenotypes to clinical symptoms. These include various measures that index temperamental predispositions to IDs and correlate with neural substrates of fear, anxiety, and affective regulation...
May 22, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#20
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
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