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INTRODUCTION: Fetal anemia from hemolytic disease treated by intrauterine transfusion (IUT) can be performed by intraperitoneal, intracardiac, and intravascular transfusion (IVT). Objective of our study was to compare different transfusion techniques. METHODS: Retrospective review of IUT secondary to red cell alloimmunization was conducted at eight international centers from 2012 to 2020. Severe anemia suspected if middle cerebral artery peaks systolic velocity ≥1.5 multiples of the median. Demographic, delivery, and postnatal variables were analyzed. RESULTS: Total of 344 procedures, 325 IVT and 19 other techniques (non-IVT) included. No difference in demographics, history of stillbirth (20.5 vs. 15.8%, p = 0.7), prior pregnancy IUT (25.6 vs. 31.6%, p = 0.5) or neonatal transfusion (36.1 vs. 43.8%, p = 0.5). At first IUT, non-IVT had higher hydrops (42.1% vs. 20.4%, p = 0.03), lower starting hematocrit (13.3% [±6] vs. 17.7% [±8.2], p = 0.04), and trend toward lower gestational age (24.6 [20.1-27] vs. 26.4 [23.2-29.6] weeks, p = 0.08). No difference in birthweight, neonatal phototherapy, exchange, or simple transfusion was observed. CONCLUSION: This is one of the largest studies comparing techniques to treat fetal anemia. IVT was most performed, other techniques were more likely performed in hydrops, and lower starting hematocrit was seen. Neither technique affected outcomes. This study may suggest that physician's experience may be the strongest contributor of outcomes.
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Anemia , Doenças Fetais , Isoimunização Rh , Gravidez , Recém-Nascido , Feminino , Humanos , Transfusão de Sangue Intrauterina/métodos , Doenças Fetais/terapia , Anemia/terapia , Estudos Retrospectivos , Edema , Sangue FetalRESUMO
OBJECTIVES: Fetal anemia secondary to incompatibility between maternal-fetal blood types can result in hydrops and demise. Intrauterine transfusions have improved survival in experience centers. Our objective was to determine the practice patterns amongst fetal centers. STUDY DESIGN: Thirteen fetal centers across the world were surveyed. Results from all participating centers were recorded, analyzed, and presented as ratios. Questions on the survey were related to experience of the physician, preferred methods of transfusion, fetal surveillance, and timing of delivery. RESULTS: Differences amongst centers were as follows: 54% of the centers performed transfusions in operating room, the remaining did them in a clinic room or close to the operating room; 31% did not use maternal anesthesia, 31% used oral or intravenous sedation and 38% used a combination of local with oral or intravenous sedation. The similarities include: 84% performed intravenous transfusions, while 2 centers reported intraperitoneal and intracardiac transfusions were performed for very early cases; 85% of centers performed the last transfusion at 34-35 weeks and 77% electively delivered their patients at 37 weeks. CONCLUSION: Method of transfusion and delivery timing was similar in most centers; however, differences were seen in location of procedure, anesthetic coverage, and surveillance. Further assessment is needed to determine if these differences in practice have any potential neonatal effects.
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Anemia , Doenças Fetais , Transfusão de Sangue Intrauterina/métodos , Feminino , Sangue Fetal , Doenças Fetais/terapia , Feto , Humanos , Recém-Nascido , GravidezRESUMO
Small-bowel atresias are among the most common causes of intestinal obstruction in newborns, and they often require urgent surgical treatment. Imaging techniques play a very important role in their diagnosis, which is often suspected on prenatal obstetric ultrasound and confirmed on postnatal plain-film X-rays. Abdominal ultrasound's lack of ionizing radiation, wide availability, low cost, and high resolution is making this technique increasingly important in confirming atresias and in detecting possible complications in newborns. This review analyzes a series of cases seen at our center. It summarizes the different types of small-bowel atresias, focusing on the clinical presentation, imaging findings on different modalities, presence of associated disease, management, clinical course, and outcomes.
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Atresia Intestinal , Obstrução Intestinal , Feminino , Humanos , Recém-Nascido , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/etiologia , Intestino Delgado/anormalidades , Intestino Delgado/diagnóstico por imagem , Gravidez , PesquisaRESUMO
Small-bowel atresias are among the most common causes of intestinal obstruction in newborns, and they often require urgent surgical treatment. Imaging techniques play a very important role in their diagnosis, which is often suspected on prenatal obstetric ultrasound and confirmed on postnatal plain-film X-rays. Abdominal ultrasound's lack of ionizing radiation, wide availability, low cost, and high resolution is making this technique increasingly important in confirming atresias and in detecting possible complications in newborns. This review analyzes a series of cases seen at our center. It summarizes the different types of small-bowel atresias, focusing on the clinical presentation, imaging findings on different modalities, presence of associated disease, management, clinical course, and outcomes.
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OBJECTIVES: To compare the ability of first-trimester combined screening for pre-eclampsia (PE) to predict early-onset and preterm PE when pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PlGF) were assessed before vs after 11 weeks' gestation. METHODS: This was a secondary analysis of a prospective cohort study of singleton pregnancies undergoing routine first-trimester screening conducted at Vall d'Hebron University Hospital, Barcelona, Spain, between October 2015 and September 2017. Demographic characteristics, obstetric history, maternal history and biophysical markers (mean uterine artery pulsatility index and mean arterial blood pressure (MAP)) were recorded at the first-trimester scan (at 11 + 0 to 13 + 6 weeks' gestation). Maternal serum concentrations of PAPP-A and PlGF were assessed from the routine first-trimester blood test (at 8 + 0 to 13 + 6 weeks). Women were classified into two groups depending on whether serum biomarkers were assessed at 8 + 0 to 10 + 6 weeks or at 11 + 0 to 13 + 6 weeks. Probability scores for early-onset and preterm PE were calculated by using two different algorithms: the multivariate Gaussian-distribution model and The Fetal Medicine Foundation (FMF) competing-risks model. Receiver-operating-characteristics (ROC) curves were produced and detection rates at fixed 5% and 10% false-positive rates were computed to compare the performance of these algorithms when PAPP-A and PlGF were assessed before vs after 11 weeks. RESULTS: Of the 2641 women included, serum biomarkers were assessed before 11 weeks in 1675 (63.4%) and at or after 11 weeks in 966 (36.6%). Of these, 90 (3.4%) women developed PE, including 11 (0.4%) cases of early-onset PE and 30 (1.1%) of preterm PE. Five (45.5%) cases of early-onset and 16 (53.3%) of preterm PE were identified in the group in which serum biomarkers were assessed at 8 + 0 to 10 + 6 weeks and six (54.5%) cases of early-onset and 14 (46.7%) of preterm PE in the group in which serum biomarkers were assessed at 11 + 0 to 13 + 6 weeks. In the prediction of early-onset and preterm PE using the Gaussian algorithm, no differences were observed between the areas under the ROC curves (AUCs) when PAPP-A and PlGF were measured before or after 11 weeks. In the prediction of early-onset and preterm PE using the FMF algorithm, no differences were observed between AUCs for any of the combinations used for risk calculation when the serum biomarkers were obtained before vs after 11 weeks, except for the combination of PAPP-A and MAP, which showed a greater AUC for the prediction of early-onset PE when PAPP-A was measured at or after 11 weeks. CONCLUSIONS: The prediction of early-onset and preterm PE is similar when serum biomarkers are measured before or after 11 weeks. This allows the use of a two-step approach for PE risk assessment that permits immediate risk calculation at the time of the first-trimester scan. © 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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Artéria Cerebral Média/diagnóstico por imagem , Fator de Crescimento Placentário/sangue , Pré-Eclâmpsia/diagnóstico , Proteína Plasmática A Associada à Gravidez/análise , Artéria Uterina/diagnóstico por imagem , Adulto , Biomarcadores/sangue , Feminino , Humanos , Recém-Nascido , Artéria Cerebral Média/embriologia , Pré-Eclâmpsia/sangue , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Fluxo Pulsátil , Curva ROCRESUMO
INTRODUCTION: The acromioclavicular joint, important part of the shoulder complex is formed by clavicular lateral end and acromial medial border, with high index of injury in different grades, associated to physical activity and work accidents, most commonly in active young adults. OBJECTIVE: To analyze functional outcomes in patients with acromioclavicular dislocation with use of tight rope in one year. Material and methods: Descriptive, prospective, longitudinal, unicentric study, from March 2015 and July 2016 in post-operated patients with diagnosis of acromioclavicular dislocation grade III in Hospital de Traumatología y Ortopedia de Puebla. Patients aged 18 to 45 years were included, active workers, with evolution time 7 days. RESULTS: 17 patients with diagnosis of acromioclavicular dislocation, fourteen (82.4%) male and 3 (17.6%) female. Average age: 29.5 (19 to 44 years) ± 7.475 years; lesion occurred 9 (52.9%) patients in right shoulder and 8 (47.1%) in left side. Average time of the injury: 2.88 (1-7) ± 2,147 days. Average inability granted: 42.06 days. CONCLUSIONS: The open reduction technique and dynamic stabilization of the joint with Tight Rope offers short hospital stay, short time of inability and rapid reintegration to work activity, at 1 year of evolution.
INTRODUCCIÓN: La articulación acromioclavicular es parte importante del complejo articular del hombro, formada por el extremo lateral de la clavícula y el borde medial del acromion. Tiene un alto índice de lesión en grados asociados a actividad física y accidentes laborales. Predomina en jóvenes laboralmente activos. OBJETIVO: Analizar la funcionalidad a un año en pacientes con luxación acromioclavicular grado III, operados con sistema anclaje doble botón. MATERIAL Y MÉTODOS: Estudio descriptivo, prospectivo, longitudinal, unicéntrico, durante Marzo de 2015 a Julio de 2016, en pacientes con luxación acromioclavicular grado III en el Hospital de Traumatología y Ortopedia de Puebla. Se incluyeron pacientes con edad de 18 a 45 años, trabajadores, con evolución mayor de siete días. La estadística fue descriptiva. RESULTADOS: Fueron 17 pacientes; 14 (82.4%) hombres y tres (17.6%) mujeres. Edad promedio: 29.5 (19 a 44 años) ± 7.475 años; nueve (52.9%) pacientes en el hombro derecho y ocho (47.1%) en el izquierdo. Promedio de evolución: 2.88 (1 a 7) ± 2.147 días. Incapacidad promedio: 42.06 días. CONCLUSIONES: La reducción abierta y estabilización dinámica mediante el sistema anclaje doble botón (Tight Rope) ofrece estancia intrahospitalaria corta, poco tiempo de incapacidad, reintegración rápida a la actividad laboral y resultados funcionales adecuados a un año de evolución.
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Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Adolescente , Adulto , Placas Ósseas , Feminino , Humanos , Luxações Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Adulto JovemAssuntos
Autoanticorpos/sangue , Morte Fetal , Doença de Graves/sangue , Doença de Hashimoto/sangue , Receptores da Tireotropina/metabolismo , Tireotoxicose/sangue , Adulto , Autopsia , Feminino , Doença de Graves/complicações , Doença de Graves/patologia , Doença de Hashimoto/complicações , Doença de Hashimoto/patologia , Humanos , Gravidez , Cuidado Pré-Natal/métodos , Recidiva , Tireotoxicose/patologiaRESUMO
INTRODUCTION: Percutaneous discectomy is a disc decompression technique approved by the FDA that is useful to improve pain caused by a herniated disc. However, its practice is under discussion because the benefits of the technique are controversial. OBJECTIVES: To describe the clinical course of patients with low lumbar disc herniation (L4-L5, L5-S1) treated by percutaneous surgery within one year of surgery and prove that it is a useful surgical option for the relief of symptoms caused by this pathological entity. MATERIAL AND METHODS: Cohort study; the clinical course of 21 patients with lumbar disc herniation treated with percutaneous discectomy manually during March 2011-November 2013, is presented. The evaluation was made before surgery and at four, 30, 180 and 365 days after surgery by numerical pain scale (NPS), Oswestry (IDO) and MacNab criteria. We used nonparametric inferential statistics (Wilcoxon) for differences in proportions. RESULTS: n = 21, six (28.57%) men, 15 (71.42%) women; average age: 37.95, (14-56) ± 10.60 years; the most affected vertebral level was L4-L5 in 57.14% of the patients; the NPS preoperative average was 7.75 (5-9) ± 1.12; at 365 days: average 2.14 (0-7) ± 2.37. The IDO preoperative average was 37% (28-40%) ± 3.06, and at 365 days: 9.52% (0-40%) ± 13.92. The prognosis (IDO) in the presurgical was good to zero (0%) patients and in 15 (71.42%) at 365 days, regular in five (23.80%) and poor in one (4.78%) (p = 0.00, CI 95% 0.00 to 0.13, Wilcoxon); according to MacNab criteria, in 15 (71.42%) patients were excellent and good, poor in four (19.04%) and bad in two (9.52%) (p = 0.00). CONCLUSIONS: Percutaneous discectomy provides good results for the treatment of lumbar disc herniation (L4-L5, L5-S1) at 365 days after surgery.
La nucleotomía percutánea es una técnica de descompresión discal aprobada por la FDA que ha mostrado ser útil para mejorar el dolor causado por hernia discal. No obstante, su práctica se encuentra en discusión debido a que los beneficios de la técnica son controversiales.
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Discotomia Percutânea , Deslocamento do Disco Intervertebral , Adulto , Estudos de Coortes , Feminino , Humanos , Deslocamento do Disco Intervertebral/terapia , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
OBJECTIVE: To evaluate the incidence, onset, duration, characteristics and importance of late-onset neutropenia (defined as absolute neutrophil count<1500 µl(-1) at 3 weeks of age or later) in a group of very low birth weight (VLBW) infants. STUDY DESIGN: Routine complete blood cell counts (CBCs) obtained from VLBW infants over a period of 7 years were gathered retrospectively, including those of newborns with weekly CBCs taken over a duration of at least 3 weeks. Data were obtained from between January 2003 and December 2009. RESULT: CBCs of 399 newborns were included. Values were obtained from birth to 36 weeks of postnatal age. Late-onset neutropenia was observed in 259 cases (65%). Neutropenic infants had a mean of 0.5 weeks lower gestational age. Late-onset neutropenia was more frequent in children with intraventricular hemorrhage but not in patients who received erythropoietin. The median age of neutropenia onset was 7 weeks in extremely low birth weight infants and 6 weeks in VLBW infants. The fifth percentile of neutrophils between weeks 3 and 4 was 1280 µl(-1) and between weeks 13 and 15 was 500 µl(-1). The average duration was 2 weeks with normalized values after 18 weeks. CONCLUSION: A neutrophil count <1500 µl(-1) after the third week of life is frequently observed in VLBW infants and should not be used as a lower reference limit. The fifth percentile varies according to postnatal age from around 1300 µl(-1) in week 4 of life, decreasing to a nadir of 500 µl(-1) between 3 and 4 months of age. Values normalize in the first year of life.
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Eritropoetina/uso terapêutico , Recém-Nascido de muito Baixo Peso/sangue , Neutropenia/sangue , Idade de Início , Hemorragia Cerebral/complicações , Feminino , Humanos , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/sangue , Doenças do Prematuro/epidemiologia , Contagem de Leucócitos , Masculino , Neutropenia/tratamento farmacológico , Neutropenia/epidemiologia , Estudos RetrospectivosRESUMO
BACKGROUND: The risk of pre-eclampsia (PE) increases in twin pregnancies, especially when assisted reproduction technologies (ART) are used. The aim of this study was to assess angiogenic/anti-angiogenic factors in maternal serum in the first trimester of twin pregnancies and establish if the mode of conception influences angiogenic status. METHODS: This prospective study enrolled women with twin (n = 61) and singleton (n = 50) pregnancies. Dichorionic twin pregnancies were divided into two groups according to their mode of conception. Singleton pregnancies were used as the control group. Soluble fms-like tyrosine kinase (sFlt-1), free placental growth factor (PlGF) and soluble endoglin (sEng) concentrations were measured in the first trimester maternal serum. RESULTS: In the first trimester, women with twin pregnancies had higher serum concentrations of the anti-angiogenic factor sFlt-1 than that with singleton pregnancies (3924 ± 250 versus 2426 ± 162 pg/ml, respectively; P < 0.001). Maternal serum PlGF concentrations were lower in singleton pregnancies than those in twin pregnancies (37 ± 3.7 versus 59 ± 5.6, respectively; P < 0.001). Serum concentrations of sFlt-1 were higher in twin pregnancies conceived by ART than those in spontaneous twin pregnancies (4313 ± 389 versus 3522 ± 300 pg/ml, respectively; P < 0.05). No differences between groups were observed for sEng. CONCLUSIONS: In the first trimester, twin pregnancies conceived using ART showed a heightened anti-angiogenic status that could explain the increased risk of PE in these cases.
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Inibidores da Angiogênese/sangue , Proteínas Angiogênicas/sangue , Proteínas da Gravidez/sangue , Primeiro Trimestre da Gravidez , Gravidez de Gêmeos/sangue , Técnicas de Reprodução Assistida/efeitos adversos , Adulto , Antígenos CD/sangue , Antígenos CD/química , Estudos de Coortes , Endoglina , Feminino , Humanos , Fator de Crescimento Placentário , Pré-Eclâmpsia/epidemiologia , Pré-Eclâmpsia/etiologia , Gravidez , Proteínas da Gravidez/química , Estudos Prospectivos , Receptores de Superfície Celular/sangue , Receptores de Superfície Celular/química , Risco , Solubilidade , Espanha/epidemiologia , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/sangue , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/químicaRESUMO
BACKGROUND: During the last years the appearance of the acquired V617F mutation of the Janus Kinase 2 gene (JAK2) in patients suffering different thrombotic events has been described. We decided to develop a new and rapid multiplex real-time Polymerase Chain Reaction (PCR) in order to detect the V617F mutation together with the inherited prothrombotic mutations of factors F5 and F2. DESIGN AND METHODS: The method was carried out on the LightCycler 2.0 (Roche Diagnostics, Mannheim, Germany) and consisted in a first step of simultaneous amplification by real-time PCR of the three genes to be genotyped, in a 20microl closed tube, using a primer pair together with the correspondent FRET-hybridization probes for each gene. RESULTS: We assayed 41 samples in the multiplex PCR reaction, 19 were positive (46.34%) for V617F mutation. From the V617F positive samples we found 1 sample heterozygous for F2 (5.26%) and 1 sample heterozygous for F5 (5.26%), so a 10.52% of the samples tested combine V617F mutation with inherited thrombophilic mutations. Results were clear, rapid and reliable allowing a significant time saving. CONCLUSIONS: The technique presented in this manuscript is a new achievement in the field of the molecular diagnosis that combines the genotyping of F5 and F2 with the assessment of the JAK2 (V617F) mutation load.
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Fator V/genética , Janus Quinase 2/genética , Reação em Cadeia da Polimerase/métodos , Protrombina/genética , Trombofilia/genética , Primers do DNA , Frequência do Gene , Genótipo , Humanos , Métodos , Mutação de Sentido Incorreto , Estudos RetrospectivosRESUMO
Umbilical cord amniotic bands occur in approximately 10% of cases of amniotic band syndrome and are a well-known cause of fetal death. An unexpected amniotic band encircling the umbilical cord was diagnosed during a fetoscopic procedure to release a leg constriction. Both bands were released fetoscopically using a YAG laser. We report the first case of an amniotic band involving the umbilical cord diagnosed and released prenatally.
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Síndrome de Bandas Amnióticas/cirurgia , Fetoscopia/métodos , Terapia a Laser/métodos , Cordão Umbilical , Adulto , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Feminino , Humanos , Recém-Nascido , Lasers de Estado Sólido , Salvamento de Membro/métodos , Gravidez , Fluxo Sanguíneo Regional , Resultado do Tratamento , Ultrassonografia , Cordão Umbilical/diagnóstico por imagem , Cordão Umbilical/patologiaRESUMO
The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status.
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Anemia Refratária/genética , Anemia Refratária/patologia , Janus Quinase 2/genética , Mutação de Sentido Incorreto , Trombocitose/genética , Trombocitose/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Anemia Refratária/sangue , Células da Medula Óssea/metabolismo , Células da Medula Óssea/patologia , Feminino , Humanos , Janus Quinase 2/metabolismo , Masculino , Pessoa de Meia-Idade , Contagem de Plaquetas , Estudos Retrospectivos , Trombocitose/sangueRESUMO
Mesenchymal stem cells (MSCs) express an osteoblastic phenotype when treated with BMP-2, and BMP-2 is used clinically to induce bone formation although high doses are required. Pulsed electromagnetic fields (PEMF) also promote osteogenesis in vivo, in part through direct action on osteoblasts. We tested the hypothesis that PEMF enhances osteogenesis of MSCs in the presence of an inductive stimulus like BMP-2. Confluent cultures of human MSCs were grown on calcium phosphate disks and were treated with osteogenic media (OM), OM containing 40 ng/mL rhBMP-2, OM + PEMF (8 h/day), or OM + BMP-2 + PEMF. MSCs demonstrated minor increases in alkaline phosphatase (ALP) during 24 days in culture and no change in osteocalcin. OM increased ALP and osteocalcin by day 6, but PEMF had no additional effect at any time. BMP-2 was stimulatory over OM, and PEMF + BMP-2 synergistically increased ALP and osteocalcin. PEMF also enhanced the effects of BMP-2 on PGE2, latent and active TGF-beta1, and osteoprotegerin. Effects of PEMF on BMP-2-treated cells were greatest at days 12 to 20. These results demonstrate that PEMF enhances osteogenic effects of BMP-2 on MSCs cultured on calcium phosphate substrates, suggesting that PEMF will improve MSC response to BMP-2 in vivo in a bone environment.
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Proteínas Morfogenéticas Ósseas/farmacologia , Campos Eletromagnéticos , Células-Tronco Mesenquimais/citologia , Células-Tronco Mesenquimais/efeitos dos fármacos , Osteogênese/efeitos dos fármacos , Fator de Crescimento Transformador beta/farmacologia , Fosfatase Alcalina/metabolismo , Proteína Morfogenética Óssea 2 , Técnicas de Cultura de Células , Diferenciação Celular/efeitos dos fármacos , Diferenciação Celular/fisiologia , Dinoprostona/metabolismo , Sinergismo Farmacológico , Humanos , Osteocalcina/metabolismo , Osteogênese/fisiologia , Osteoprotegerina/metabolismo , Fator de Crescimento Transformador beta1/metabolismoRESUMO
Using a yeast two-hybrid screen we isolated a gene from Schizosaccharomyces pombe which corresponds to the previously uncharacterized ORF SPCC1906.01. We have designated this gene as mpg1, based on the putative function of its product as a mannose-1-phosphatase guanyltransferase. Mpg1 shows strong similarity to other GDP-mannose-1-phosphate guanyltransferases involved in the maintenance of cell wall integrity and/or glycosylation. This homology, together with the protein's localization pattern demonstrated in this work, strongly suggests that Mpg1 is involved in cell wall and septum synthesis. Moreover, cells lacking Mpg1 present a defect in glycosylation, are more sensitive to Lyticase, and show an aberrant septum structure from the start of its deposition, indicating that the Mpg1 function is necessary for the correct assembly of the septum. Interestingly, lack of Mpg1 clearly affects cell cycle progression: mpg1 null mutants arrest as septated and bi-nucleated 4C cells, without an actomyosin ring. Wee1 is required for the G2/M arrest induced in the absence of Mpg1, since the blockade is circumvented when Wee1 is inactivated. Wee1 is part of a cell-size checkpoint that prevents entry into mitosis before cells reach a critical size. The results presented in this work demonstrate that the G2/M arrest induced in the absence of Mpg1 is mediated by this cell size checkpoint, since oversized mutant cells enter mitosis. The mpg1 loss-of-function mutant, therefore, provides a good model in which to study how cells coordinate cell growth and cell division.
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Nucleotidiltransferases/genética , Proteínas de Schizosaccharomyces pombe/genética , Schizosaccharomyces/citologia , Schizosaccharomyces/genética , Sequência de Aminoácidos , Sequência de Bases , Ciclo Celular , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Parede Celular/enzimologia , Citoplasma/enzimologia , DNA Fúngico/genética , Perfilação da Expressão Gênica , Genes Fúngicos , Dados de Sequência Molecular , Mutação , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Nucleotidiltransferases/metabolismo , Proteínas Tirosina Fosfatases/genética , Proteínas Tirosina Fosfatases/metabolismo , Proteínas Tirosina Quinases/genética , Proteínas Tirosina Quinases/metabolismo , Schizosaccharomyces/enzimologia , Proteínas de Schizosaccharomyces pombe/metabolismo , Homologia de Sequência de Aminoácidos , Técnicas do Sistema de Duplo-HíbridoRESUMO
We report on pathologic examination of three autopsied newborns with Jarcho-Levin syndrome. The most important abnormalities noted were multiple extraskeletical defects such as cardiovascular, urogenital, respiratory, and central nervous system malformations. These cases add new information to the multiple vertebral segmentation defects found in this syndrome.
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Osso e Ossos/anormalidades , Disostoses/patologia , Feminino , Humanos , Recém-Nascido , Masculino , SíndromeRESUMO
BACKGROUND: Hematopoietic progenitor cells (HPCs) can be cryopreserved and stored below -120 degrees C in liquid nitrogen or at -80 degrees C in mechanical freezers. STUDY DESIGN AND METHODS: The feasibility of long-term storage of HPCs at -80 degrees C was investigated. The studies included a comparison of 5- and 10-percent dimethyl sulfoxide (DMSO) as cryoprotectant at various lengths of storage time. Mononuclear cell (MNC) recovery and viability and colony-forming unit-granulocyte-macrophage (CFU-GM) and burst-forming unit-erythroid (BFU-E) recovery assays were performed. The peripheral blood HPCs of 24 consecutive patients included in the program of autologous transplantation were studied. RESULTS: The MNC viability decreased progressively with the length of time from cryopreservation, reaching 32 percent after 31 months of storage. The recovery rates of CFU-GM and BFU-E also decreased progressively with the duration of frozen storage, to 50 and 43.5 percent, respectively, after 12 months and to 0 percent (both) after 24 months. At 6 months of storage, MNC viability was 80 percent, and CFU-GM and BFU-E recovery was 63.5 and 80.5 percent, respectively. There were no differences between MNCs cryopreserved with 5- or 10-percent DMSO in terms of cell viability. There were no differences between CFU-GM recovery or BFU-E recovery from HPCs cryopreserved in 5- or 10-percent DMSO. Patients given HPCs stored in these conditions for periods ranging between 123 and 202 days showed a complete and rapid hematologic recovery. CONCLUSION: HPCs can be cryopreserved at -80 degrees C with 5-percent DMSO and stored at -80 degrees C no longer than 6 months. A 5-percent DMSO concentration is comparable to a with 10-percent concentration in terms of recovery and MNC viability.