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Kesara Nittayaboon, Chamnong Nopparatana
Genotypes of 260 individuals with hemoglobin H (Hb H) disease originating from various provinces in southern Thailand were characterized by multiplex PCR (M-PCR) and reverse dot blot hybridization (RDB). M-PCR was used to amplify target fragments and then hybridized with allele-specific oligonucleotide (ASO) probes which were bound on a nylon membrane. A total of eight α-thalassemia (α-thal) mutations, which produced eight Hb H disease genotypes (α0 -thal/α+ -thal), were detected. The most common form of α0 -thal was -SEA with a frequency of 99...
July 13, 2018: International Journal of Hematology
Soosan Jacob, Smita Narasimhan, Amar Agarwal, Jambulingam Sambath, Govindharaj Umamaheshwari, Areeckal Incy Saijimol
PURPOSE: To report primary treatment of acute corneal hydrops (CH) with a modified technique of predescemetic deep anterior lamellar keratoplasty (pdDALK). METHODS: This prospective interventional case series included 9 eyes with acute CH that underwent pdDALK as primary treatment. Technique modifications included a bevel-up needle, creating tissue emphysema as a guide for dissection, using small aliquots of air directed away from break, manual deeper dissection using a blunt dissector, centripetal dissection leaving the area of Descemet membrane (DM) break for last, retention of minimal stroma above DM tear, and tamponade of DM tear with air in the anterior chamber...
July 11, 2018: Cornea
Kumaran Vadivel, Ramamurthy Mageshbabu, Sathish Sankar, Amita Jain, Vivekanandan Perumal, Padma Srikanth, Ghosh Asit Ranjan, Aravindan Nair, Eric A F Simoes, Balaji Nandagopal, Gopalan Sridharan
Background & objectives: Human parvovirus B19V (B19V) is known to be associated with erythema infectiosum commonly in children, aplastic crisis, especially in persons with underlying haemolytic disorders, hydrops fetalis in pregnancies and arthritis. This cross-sectional study was aimed to determine the presence of B19V infection in childhood febrile illnesses, association of B19V with arthropathies and in adult patients with end-stage renal disease (ESRD) on dialysis. The genetic diversity among the sequences was also analysed...
April 2018: Indian Journal of Medical Research
N Dilay Gültekin, F Hilal Yilmaz, H Altunhan, S Findik, H Tokgöz, Ümran Çalişkan
Kasabach-Merritt syndrome is a rare life-threatening clinical presentation in neonatal period. it is characterized by giant hemangioma and serious thrombocytopenia. The diagnostic criteria include: 1) hemangiomas on skin, 2) thrombocytopenia or coagulopathy, 3) hemangioma on internal organs diagnosed by ultrasonography, computed tomography or magnetic resonance imaging, and 4) excluding reasons, such as idiopathic thrombocytopenic purpura or hypersplenism.Placental chorioangiomas are the most widespread non-trophoblastic benign tumor-like lesions of placenta...
2018: Journal of Neonatal-perinatal Medicine
Takehiko Oami, Taku Oshima, Reiko Oku, Kazuya Nakanishi
Background: Thrombolysis for pulmonary embolism and targeted temperature management for cardiac arrest are controversial treatments in pregnancy. Case: A 37-year-old woman at 23 weeks gestation presented with persistent dyspnea. She experienced cardiac arrest soon after arrival at the emergency room. Massive right ventricular dilatation on echocardiography during the transient return of spontaneous circulation suggested pulmonary embolism. We administered recombinant tissue plasminogen activator for suspected pulmonary embolism to successfully resuscitate the patient experiencing refractory cardiac arrest despite heparin infusion...
July 2018: Acute Medicine & Surgery
Daniel J Pender
Introduction  Grossly displaced membranes are characteristic of endolymphatic hydrops. The process whereby physiological membrane displacement becomes pathological may be mediated by stress, but the membrane biomechanics underlying this transition are unclear. Objective  This study seeks to determine the role of suspensory tethers during pressure-induced membrane displacement in the generation of the membranous lesions seen in this disease entity using a biomechanical model approach. Methods  The location of membrane suspensory tethers was identified histologically...
July 2018: International Archives of Otorhinolaryngology
G Ram Mohan, A Shashidhar, B S Chandrakala, Saudamini Nesargi, P N Suman Rao
OBJECTIVE: To evaluate the effect of cord milking on short term morbidity and hematologic parameters at 6 weeks in preterm neonates requiring resuscitation. METHODS: This trial randomized preterm infants requiring resuscitation to milking group and no milking group. Multiple pregnancy, Rh negative mothers, hydrops, cord abnormalities were excluded. The primary outcome was hemoglobin and serum ferritin at 6 weeks of life. Secondary outcomes were common preterm morbidities and mortality RESULTS: 60 neonates were included in the study...
July 5, 2018: Resuscitation
Valérie Désilets, Isabelle De Bie, François Audibert
OBJECTIF: Décrire les méthodes actuelles d'évaluation et de prise en charge de l'anasarque fœtoplacentaire non immune en mettant l'accent sur les étiologies traitables ou récurrentes. RéSULTATS: Offrir de meilleurs services de counseling et de prise en charge en cas d'anasarque fœtoplacentaire non immune diagnostiquée en période prénatale. DONNéES: La littérature publiée a été récupérée au moyen de recherches menées dans PubMed, MEDLINE, CINAHL, et la Bibliothèque Cochrane en 2017 à l'aide de mots-clés (« non-immune hydrops fetalis », « fetal hydrops », « fetal therapy », « fetal metabolism »)...
July 3, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Iole Brunod, Barthélémy Tosello, Sophie Hassid, Catherine Gire, Laurent Thomachot, Michel Panuel
BACKGROUND: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy. CASE PRESENTATION: The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy...
July 5, 2018: BMC Pediatrics
Deborah R Berman, Kelly Walkovich, Marjorie C Treadwell
Nonimmune hydrops remains a challenge in the prenatal setting with many cases not having a clear etiology determined prior to birth. We present an unusual case of one fetus of a dichorionic twin pair presenting at 24 weeks' gestation with hydrops and fetal pancytopenia with complete absence of white cells of unknown etiology, as revealed by cordocentesis. Serial red blood cell transfusions resulted in resolution of hydrops and continuation of the pregnancy until 35 weeks' gestation. Pancytopenia was noted throughout gestation and persisted in the newborn period...
July 4, 2018: Fetal Diagnosis and Therapy
Denizhan Bagrul, Elif G Karadeniz, Serhat Koca
Kawasaki disease is an acute febrile multisystem vasculitis. The term Incomplete Kawasaki disease is used in the presence of a minimum of two diagnostic criteria of clinical Kawasaki syndrome accompanied by at least 5 days of fever, the absence of any other reasons characterising the disease, and the presence of severe systemic inflammation findings. Gastrointestinal symptoms, notably diarrhoea, abdominal pain, and vomiting, frequently occur, and elevated serum aminotransferases, gallbladder hydrops, and rarely other forms of gastrointestinal involvement such as ischaemic colitis, intussusception, hepatic necrosis, splenic infarct, intestinal pseudo-obstruction, colitis, and colon oedema are also reported...
July 2, 2018: Cardiology in the Young
Marina Tuerlinckx Costa-Valle, Bruna Ducatti Tonieto, Louise Altknecht, Camila D Cunha, Nuryan Fão, Larissa V Cestonaro, Gabriela Göethel, Solange C Garcia, Mirna Bainy Leal, Eliane Dallegrave, Marcelo Dutra Arbo
The aim of this study was to evaluate the acute toxicity of the association of energy drink and alcohol in male Wistar rats. Animals were treated by oral gavage with 10 ml/kg distilled water (control); 10 ml/kg energy drink (ED10); 3.2 mg/kg caffeine + 40 mg/kg taurine; 2 g/kg alcohol 20%; 2 g/kg alcohol 20% + ED10; and 2 g/kg alcohol 20% + 3.2 mg/kg caffeine + 40 mg/kg taurine. Behavioral alterations were observed for 6 h after treatment. Animals presented significant differences in the frequency of rearing, ambulation, grooming, wakefulness and tachypnea along time...
June 27, 2018: Toxicology and Applied Pharmacology
Marius Flasinski, Kira Scheibke, Martin Zimmermann, Ursula Creutzig, Katarina Reinhardt, Femke Verwer, Valerie de Haas, Vincent H J van der Velden, Christine von Neuhoff, C Michel Zwaan, Dirk Reinhardt, Jan-Henning Klusmann
Approximately 5% to 10% of children with Down syndrome (DS) are diagnosed with transient myeloproliferative disorder (TMD). Approximately 20% of these patients die within 6 months (early death), and another 20% to 30% progress to myeloid leukemia (ML-DS) within their first 4 years of life. The aim of the multicenter, nonrandomized, historically controlled TMD Prevention 2007 trial was to evaluate the impact of low-dose cytarabine treatment on survival and prevention of ML-DS in patients with TMD. Patients received cytarabine (1...
July 10, 2018: Blood Advances
Yoon Chan Rah, Eun Jung Han, Saemi Park, Jihye Rhee, Soonil Koun, Hae-Chul Park, June Choi
Recently, intratympanic injection of gadolinium-based contrast agent (GdC) is growing in use to visualize the endolymphatic hydrops. Although GdC has been quite safely used over 20 years through intravenous injection, the biological influence of GdC on sensory hair cells needs to be thoroughly assessed for wider clinical application of it through intratympanic injection. In this in vivo experimental study, the summated number of sensory hair cells (SO1, SO2, O1 and OC1 neuromasts) showed a steep decrease in the group exposed to 10% and 20% GdC (35...
June 29, 2018: Journal of Applied Toxicology: JAT
Hanane Bouchghoul, Chloé Quelin, Philippe Loget, Féréchté Encha-Razavi, Marie-Victoire Senat, Lorraine Maheut, Julie Galimand, Sophie Collardeau-Frachon, Lydie Da Costa, Jelena Martinovic
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the three male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss (es) and mild maternal thrombocytopenia are also present...
June 27, 2018: Prenatal Diagnosis
Ketong Lai, Shuquan Li, Weixiong Lin, Dezhai Yang, Wenqiang Chen, Minqing Li, Lihong Pang, Ping Chen
PURPOSE: The aim of the present study was to report experiences with invasive prenatal diagnosis of α-thalassemia for the prevention of Hb Bart's hydrops fetalis syndrome in the Guangxi Zhuang Autonomous Region, China. METHODS: Pregnant women and their partners who tested positive for α0 -thalassemia or were diagnosed with HbH diseases were counseled and suggested to undergo a prenatal diagnostic procedure for α-thalassemia. Fetal material was obtained by chorionic villus sampling (CVS) between 9 and 13 weeks of gestation, by amniocentesis between 16 and 24 weeks of gestation and by cordocentesis after 24 weeks of gestation...
June 9, 2018: Archives of Gynecology and Obstetrics
Rachael R Baiduc, Sumitrajit Dhar
Purpose: Distortion product otoacoustic emissions (DPOAEs) are a by-product of active cochlear processes that lead to the compressive nonlinearity of healthy ears. The most commonly studied emission is at the frequency 2f1-f2, but there has been recent interest in using the quadratic distortion product at the frequency f2-f1 to detect cochleopathies including endolymphatic hydrops. Before the DPOAE at f2-f1 can be applied clinically in any capacity, optimal stimulus parameters for its elicitation must be established...
June 25, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
Dong-Liang Lyu, Da-Bin Wang, Hua Shao, Ying Zhu, Dan Zhang
OBJECTIVE: To explore the diagnostic value of MRI in the transient dislocation of the patella. METHODS: The DR and MRI data of 35 patients with acute patellar transient dislocation from January 2015 to December 2017 were retrospectively analyzed, including 12 males and 23 females, ranging in age from 10 to 23 years old, with an average of 17 years old. The differences between DR and MRI diagnosis and surgical or discharge diagnosis were compared, and the difference between them in diagnosis of knee anatomical position, bone injury, signs and soft tissue injury were compared...
June 25, 2018: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
Yoshihisa Katoh, Takahiro Seyama, Nobuko Mimura, Hitomi Furuya, Toshio Nakayama, Takayuki Iriyama, Takeshi Nagamatsu, Yutaka Osuga, Tomoyuki Fujii
Mirror syndrome (MS) is characterized by the combination of maternal generalized edema, fetal hydrops and placental hypertrophy. A shift of the serum placenta-derived angiogenic factor like sFlt-1 in MS is similar to that in pre-eclampsia (PE). We experienced a MS case caused by cardiac myopathy in the fetus with normal cardiac structure. A 27-year-old primiparous woman at 28 weeks of gestation had systemic edema without hypertension and proteinuria. Her symptoms rapidly disappeared after delivery. Compared with previously reported MS cases with maternal hypertension or proteinuria, the serum sFlt-1 level was lower in our case...
March 2018: Oxford Medical Case Reports
Romică Sebastian Cozma, Lucia Corina Dima-Cozma, Luminiţa Mihaela Rădulescu, Maria Cristina Hera, Cristian Mârţu, Raluca Olariu, Bogdan Mihail Cobzeanu, Oana Roxana Bitere, Mihail Dan Cobzeanu
Patients with hearing loss who underwent cochlear implantation can present symptomatic or asymptomatic vestibular damages earlier or later after the surgery. The vestibular permanent lesions could be acute, produced by surgical trauma or could be progressive due to local morphological changes made by the presence of the portelectrode in the inner ear (fibrosis related, ossification, basilar membrane distortion, endolymphatic hydrops). Besides histopathological findings in inner ear of cochlear implanted patients, the vestibular permanent damages could be found by assessment of clinical vestibular status...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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