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5.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 44(3): 139-141, jul.-sept. 2017.
Article in Spanish | IBECS | ID: ibc-164936

ABSTRACT

El síndrome de HELLP es una de las manifestaciones graves de la preeclampsia. En algunos casos se puede complicar con la aparición de un hematoma hepático subcapsular, cuya rotura se asocia a cifras elevadas de morbimortalidad materna y fetal. Aunque presenta signos y síntomas inespecíficos, la sospecha clínica es fundamental para su diagnóstico y tratamiento adecuado, siendo el manejo quirúrgico mediante una laparotomía la técnica de elección. Se presenta el caso de una paciente con una rotura de un hematoma hepático subcapsular en el tercer trimestre como primera manifestación de un síndrome de HELLP


HELLP syndrome is a serious manifestation of pre-eclampsia. In some cases, it may be complicated by the emergence of a hepatic subcapsular haematoma, the rupture of which is associated with high levels of maternal and foetal morbidity and mortality. Although it presents nonspecific signs and symptoms, clinical suspicion is essential for diagnosis and proper treatment. The technique of choice is surgical management by laparotomy. We present the case of a patient with a ruptured hepatic subcapsular haematoma in the third trimester; the first manifestation of HELLP syndrome


Subject(s)
Humans , Female , Pregnancy , Adult , HELLP Syndrome/diagnosis , Hematoma/complications , Pre-Eclampsia/diagnosis , Liver Diseases/complications , Pregnancy Complications/diagnosis , Rupture, Spontaneous/complications
6.
Nutr Metab Cardiovasc Dis ; 24(5): 524-31, 2014 May.
Article in English | MEDLINE | ID: mdl-24361072

ABSTRACT

BACKGROUND AND AIM: Nutritional-based approaches aimed to prevent microvascular dysfunction associated to obesity present potential advantages over pharmacological strategies. Our aim was to test whether a rice bran enzymatic extract (RBEE)-supplemented diet could attenuate microvascular alterations in obese rats. METHODS AND RESULTS: Lean and obese Zucker rats were fed standard diet supplemented or not with 1% and 5% RBEE for 20 weeks. Functional studies were performed in small mesenteric arteries in isometric myograph. Immunoblotting and fluorescence studies were made in arterial homogenates and arterial sections, respectively. RBEE-supplementation restored microvascular function in obese rats through a marked increase in NO and endothelial-derived hyperpolarizing factor contribution by up-regulation of eNOS and calcium-activated potassium channels expression, respectively, in association to a substantial reduction of microvascular inflammation and superoxide anion formation. These data agrees with the beneficial actions of RBEE on dyslipidemia, hyperinsulinemia and hypertension in obesity. CONCLUSION: The multi-factorial properties of RBEE-diet, especially for restoring the function of small resistance arteries shows this dietary-based approach to be a promising candidate for prevention of microvascular alterations in obesity, which are crucial in cardiovascular events in obese subjects.


Subject(s)
Dietary Fiber/administration & dosage , Hypertension/diet therapy , Obesity/diet therapy , Oryza/chemistry , Adiponectin/blood , Animals , Blood Glucose/metabolism , Blood Pressure , Cholesterol, HDL/blood , Diet , Dyslipidemias/diet therapy , Hyperinsulinism/diet therapy , Insulin/blood , Interleukin-1beta/blood , Interleukin-6/blood , Nitric Oxide/blood , Nitric Oxide Synthase Type III/genetics , Nitric Oxide Synthase Type III/metabolism , Rats , Rats, Zucker , Triglycerides/blood , Tumor Necrosis Factor-alpha/blood , Up-Regulation
7.
Biomed Microdevices ; 14(6): 1129-40, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22773184

ABSTRACT

This paper presents a microfluidic device consisting of five parallel microchambers with integrated readout-grid for the screening of anti-proliferative activity of drugs in vascular smooth muscle cells (VSMC). A two-level SU-8 master was fabricated and replicated with poly(dimethylsiloxane), PDMS, using standard soft-lithographic methods. The relative small height (4-10 µm) of the integrated grid allowed the identification of single-cells or cell groups and the monitoring of their motility, morphology and size with time, without disturbing their proliferation pattern. This is of particular interest when considering VSMC which, apart of being crucial in the atherosclerotic process, do not proliferate in a single layer but in a non-homogenous hill and valley phenotype. The performance of the microfluidic device has been validated by comparison with conventional culturing methods, proving that the cell proliferation remains unaffected by the microchamber structure (with the integrated grid) and the experimental conditions. Finally, the microfluidic device was also used to evaluate the anti-proliferative activity of curcumin and colchicine in VSMC. With this cellular type, the anti-proliferative activity of curcumin (IC(50) =35 ± 5 µM) was found to be much lower than colchicine (IC(50) =3.2 ± 1.2 µM). These results demonstrate the good performance of the microfluidic device in the evaluation of the anti-proliferative activity (or cytotoxicity) of drugs.


Subject(s)
Cell Proliferation/drug effects , Colchicine/pharmacology , Curcumin/pharmacology , Microfluidic Analytical Techniques/instrumentation , Muscle, Smooth, Vascular/drug effects , Myocytes, Smooth Muscle/drug effects , Animals , Aorta/cytology , Aorta/drug effects , Bioreactors , Dimethylpolysiloxanes/chemistry , Equipment Design , Microfluidic Analytical Techniques/methods , Muscle, Smooth, Vascular/cytology , Myocytes, Smooth Muscle/cytology , Nylons/chemistry , Rats , Single-Cell Analysis/methods
10.
Nefrología (Madr.) ; 30(2): 252-257, mar.-abr. 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-104539

ABSTRACT

En el Hospital Universitario de Canarias pusimos en marcha, en mayo de 2008, un protocolo de tratamiento de inducción para pacientes hipersensibilizados que reciben injerto renal de cadáver utilizando inmunoglobulinas intravenosas, plasmaféresis y rituximab más una inmunosupresión triple con prednisona, tacrolimus y micofenolatomofetil. Presentamos los resultados de 4 pacientes. Todo sellos presentaban una tasa de anticuerpos anti-HLA (PARA por CDC) superior al 75%, llevaban en lista de espera de 4a 17 años, el tiempo de seguimiento posterior al trasplante fue de 10-14 meses y la supervivencia de paciente y del injerto en este período fue del 100%. Sólo un paciente sufrió un rechazo agudo mediado por anticuerpos y otro uno celular, en ambos casos reversibles con el tratamiento. En la evolución no se objetivó aparición de novo de anticuerpos donante-específicos. Todos los pacientes habían reducido significativamente el número de células CD19+ después de la infusión de rituximab. No se han detectado síntomas neurológicos indicativos de leucoencefalopatía multifocal progresiva ni infecciones virales graves después del trasplante y tampoco se han observado efectos secundarios inmediatos tras la administración de la medicación. En resumen, el tratamiento de inducción combinado con inmunoglobulinas, plasmaféresis y rituximab en pacientes (..) (AU)


In our Universitary Hospital of Canarias we iniciated in May2008 a induction therapy protocol for sensitized patients receiving cadaveric renal graft using intravenous immunoglobulins, plasmapheresis and rituximab plusimmuno suppression with prednisone, tacrolimus and mycophenolate mofetil. We present the results of four patients. Everyone had anti-HLA antibodies rate (PRA by CDC) more than 75%, were on a waiting list during 4 to 17 years and follow-up time was 10-14 months after transplantation. Patient and graft survival in this period was 100%. Only one patient suffered a humoral acute rejection and another one cellular rejection, in both cases reversible with treatment. During the first year, no evidence of de novo donor-specific antibodies was detected. All patients had significantly reduced the CD19+ cells percentage after infusion of rituximab. Neurological symptoms suggestive of progressive multifocal leukoencephalopathy or serious viral infections after transplantation have not been observed. Additionally, no immediate side effects were observed after administration of medication. In summary, induction therapy by combining immunoglobulin, plasmapheresis and rituximab in hypersensitive patients allows the realization of deceased kidney transplantation with good results in the short and medium-term without serious side effects. It remains to know whether this success will continue in the long term (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Kidney Transplantation/methods , Immunoglobulins/administration & dosage , Plasmapheresis/methods , Antibodies, Monoclonal/administration & dosage , Transplantation Conditioning/methods , Induction Chemotherapy/methods , Hypersensitivity/drug therapy , Nephritis, Interstitial/therapy , Diabetic Nephropathies/therapy , Polycystic Kidney Diseases/therapy
11.
Nefrologia ; 30(2): 252-7, 2010.
Article in Spanish | MEDLINE | ID: mdl-20098463

ABSTRACT

In our Universitary Hospital of Canarias we iniciated in May 2008 a induction therapy protocol for sensitized patients receiving cadaveric renal graft using intravenous immunoglobulins, plasmapheresis and rituximab plus immunosuppression with prednisone, tacrolimus and mycophenolate mofetil. We present the results of four patients. Everyone had anti-HLA antibodies rate (PRA by CDC) more than 75%, were on a waiting list during 4 to 17 years and follow-up time was 10-14 months after transplantation. Patient and graft survival in this period was 100%. Only one patient suffered a humoral acute rejection and another one cellular rejection, in both cases reversible with treatment. During the first year, no evidence of de novo donor-specific antibodies was detected. All patients had significantly reduced the CD19+ cells percentage after infusion of rituximab. Neurological symptoms suggestive of progressive multifocal leukoencephalopathy or serious viral infections after transplantation have not been observed. Additionally, no immediate side effects were observed after administration of medication. In summary, induction therapy by combining immunoglobulin, plasmapheresis and rituximab in hypersensitive patients allows the realization of deceased kidney transplantation with good results in the short and medium-term without serious side effects. It remains to know whether this success will continue in the long term.


Subject(s)
Antibodies, Monoclonal/therapeutic use , Graft Rejection/prevention & control , HLA Antigens/immunology , Immunoglobulins, Intravenous/therapeutic use , Immunosuppressive Agents/therapeutic use , Kidney Transplantation/immunology , Plasmapheresis , Premedication , Antibodies, Monoclonal/administration & dosage , Antibodies, Monoclonal, Murine-Derived , Cadaver , Combined Modality Therapy , Female , Histocompatibility , Humans , Immunization , Immunoglobulins, Intravenous/administration & dosage , Immunosuppressive Agents/administration & dosage , Isoantibodies/blood , Kidney Failure, Chronic/immunology , Kidney Failure, Chronic/surgery , Male , Middle Aged , Mycophenolic Acid/administration & dosage , Mycophenolic Acid/analogs & derivatives , Mycophenolic Acid/therapeutic use , Prednisone/administration & dosage , Prednisone/therapeutic use , Reoperation , Rituximab , Tacrolimus/administration & dosage , Tacrolimus/therapeutic use , Tissue Donors
12.
Br J Pharmacol ; 158(6): 1609-20, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19845669

ABSTRACT

BACKGROUND AND PURPOSE: Extracellular nucleotides play a crucial role in the regulation of vascular tone and blood flow. Stimulation of endothelial cell P2Y1 receptors evokes concentration-dependent full dilatation of resistance arteries. However, this GPCR can desensitize upon prolonged exposure to the agonist. Our aim was to determine the extent and nature of P2Y1 desensitization in isolated and pressurized rat small mesenteric arteries. EXPERIMENTAL APPROACH: The non-hydrolyzable selective P2Y1 agonist ADPbetaS (3 microM) was perfused through the lumen of arteries pressurized to 70 mmHg. Changes in arterial diameter and endothelial cell [Ca(2+)](i) were obtained in the presence and absence of inhibitors of protein kinase C (PKC). KEY RESULTS: ADPbetaS evoked rapid dilatation to the maximum arterial diameter but faded over time to a much-reduced plateau closer to 35% dilatation. This appeared to be due to desensitization of the P2Y1 receptor, as subsequent endothelium-dependent dilatation to acetylcholine (1 microM) remained unaffected. Luminal treatment with the PKC inhibitors BIS-I (1 microM) or BIS-VIII (1 microM) tended to augment concentration-dependent dilatation to ADPbetaS (0.1-3 microM) and prevented desensitization. Another PKC inhibitor, Gö 6976 (1 microM), was less effective in preventing desensitization. Measurements of endothelial cell [Ca(2+)](i) in pressurized arteries confirmed the P2Y1 receptor but not M(3) muscarinic receptor desensitization. CONCLUSIONS AND IMPLICATIONS: These data demonstrate for the first time the involvement of PKC in the desensitization of endothelial P2Y1 receptors in pressurized rat mesenteric arteries, which may have important implications in the control of blood flow by circulating nucleotides.


Subject(s)
Endothelium, Vascular/metabolism , Mesenteric Artery, Superior/metabolism , Protein Kinase C/metabolism , Receptors, Purinergic P2/metabolism , Adenosine Diphosphate/administration & dosage , Adenosine Diphosphate/analogs & derivatives , Adenosine Diphosphate/pharmacology , Animals , Dose-Response Relationship, Drug , Endothelium, Vascular/drug effects , Male , Mesenteric Artery, Superior/drug effects , Protein Kinase C/antagonists & inhibitors , Purinergic P2 Receptor Agonists , Rats , Rats, Wistar , Receptor, Muscarinic M3/metabolism , Receptors, Purinergic P2Y1 , Thionucleotides/administration & dosage , Thionucleotides/pharmacology , Time Factors , Vasodilation/drug effects , Vasodilator Agents/administration & dosage , Vasodilator Agents/pharmacology
13.
Rev Neurol ; 49(2): 64-8, 2009.
Article in Spanish | MEDLINE | ID: mdl-19598134

ABSTRACT

AIM: To evaluate the effect of gravitational valves on over-drainage in hydrocephalus in adults. PATIENTS AND METHODS: We performed a retrospective study of the shunt systems placed in patients over the age of 18 years between 1998 and 2006. Patients were divided into two groups: non-GV group (without gravitational valve) and GV group (with a gravitational valve, Aesculap-Miethke 5/35). The complications that occurred during the first year following the placement of the shunt system were recorded. RESULTS: Of a total of 137 patients, 91 were from the non-GV group and 46 belonged to the GV group. Mean age: non-GV group, 62.1 years; and GV group, 64.2 years, without any significant differences. In 80 patients the aetiology was chronic adult hydrocephalus, 19 were due to expansive processes, 15 due to vascular causes, eight pseudo tumours, six post-traumatic injuries and nine were due to other causes. In the non-GV group, 9.89% presented over-drainage, whereas there were no cases in the GV group; the difference was statistically significant (p = 0.029). In the rest of the complications there were no significant differences between the two groups. The total complications in the non-GV group were 25.27% and in the GV group, 6.52%, and there were significant differences (p = 0.01), although, above all, at the expense of over-drainage, because if this complication was excluded, then the differences were no longer significant (p = 0.175). CONCLUSIONS: In our series, the use of gravitational valves in the prevention of over-drainage in adult hydrocephalus proved to be more effective than employing valves without the gravitational device.


Subject(s)
Drainage/adverse effects , Drainage/instrumentation , Hydrocephalus/therapy , Adult , Aged , Aged, 80 and over , Drainage/methods , Female , Gravitation , Humans , Male , Middle Aged , Retrospective Studies
14.
Rev. neurol. (Ed. impr.) ; 49(2): 64-68, 16 jul., 2009. ilus, tab
Article in Spanish | IBECS | ID: ibc-94786

ABSTRACT

Resumen. Objetivo. Evaluar el efecto de las válvulas gravitacionales sobre el hiperdrenaje en la hidrocefalia en el adulto. Pacientes y métodos. Estudio retrospectivo de los sistemas de derivación colocados en pacientes mayores de 18 años entre 1998 y 2006. Se dividió a los pacientes en dos grupos: grupo no VG (sin válvula gravitacional) y grupo VG (con válvula gravitacional, Aesculap-Miethke 5/35). Se contabilizaron las complicaciones producidas dentro del primer año tras la colocación del sistema de derivación. Resultados. Sobre un total de 137 pacientes, 91 fueron del grupo no VG y 46 del grupo VG. Edad media: grupo no VG, 62,1 años, y grupo VG, 64,2 años, sin que las diferencias fueran significativas. La etiología en 80 pacientes fue hidrocefalia crónica del adulto, 19 por procesos expansivos, 15 por causas vasculares, ocho pseudotumores, seis postraumáticos y nueve por otras causas. En el grupo no VG, un 9,89% presentó hiperdrenaje, mientras que en el grupo VG no hubo ningún caso; la diferencia fue estadísticamente significativa (p = 0,029). En el resto de las complicaciones no se obtuvieron diferencias significativas entre ambos grupos. Las complicaciones totales en el grupo no VG fueron del 25,27% y en el grupo VG del 6,52%, y hubo diferencias significativas (p = 0,01), aunque, sobre todo, a expensas del hiperdrenaje, ya que si se excluía esta complicación las diferencias no eran significativas (p = 0,175). Conclusión. En nuestra serie queda probada la eficacia de las válvulas gravitacionales en la prevención del hiperdrenaje en la hidrocefalia en el adulto comparado con las válvulas sin dispositivo gravitacional (AU)


Summary. Aim. To evaluate the effect of gravitational valves on over-drainage in hydrocephalus in adults. Patients and methods. We performed a retrospective study of the shunt systems placed in patients over the age of 18 years between 1998 and 2006. Patients were divided into two groups: non-GV group (without gravitational valve) and GV group (with a gravitational valve, Aesculap-Miethke 5/35). The complications that occurred during the first year following the placement of the shunt system were recorded. Results. Of a total of 137 patients, 91 were from the non-GV group and 46 belonged to the GV group. Mean age: non- GV group, 62.1 years; and GV group, 64.2 years, without any significant differences. In 80 patients the aetiology was chronic adult hydrocephalus, 19 were due to expansive processes, 15 due to vascular causes, eight pseudo tumours, six post-traumatic injuries and nine were due to other causes. In the non-GV group, 9.89% presented over-drainage, whereas there were no cases in the GV group; the difference was statistically significant (p = 0.029). In the rest of the complications there were no significant differences between the two groups. The total complications in the non-GV group were 25.27% and in the GV group, 6.52%, and there were significant differences (p = 0.01), although, above all, at the expense of over-drainage, because if this complication was excluded, then the differences were no longer significant (p = 0.175). Conclusions. In our series, the use of gravitational valves in the prevention of over-drainage in adult hydrocephalus proved to be more effective than employing valves without the gravitational device (AU)


Subject(s)
Humans , Hydrocephalus/therapy , Cerebrospinal Fluid Shunts/methods , Retrospective Studies , Cerebral Ventriculitis/therapy
17.
Br J Pharmacol ; 155(4): 535-46, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18622409

ABSTRACT

BACKGROUND AND PURPOSE: The present study investigated the mechanisms by which oleanolic acid, a component of olive oil, increases release of nitric oxide (NO). EXPERIMENTAL APPROACH: Measurements of isometric tension, NO concentration, or endothelial cell calcium were made in rat isolated mesenteric arteries. Immunoblotting for endothelial NOS (eNOS) and Akt kinase were performed in primary cultures of human umbilical vein endothelial cells (HUVECs). KEY RESULTS: Oleanolic acid (3-30 microM) evoked endothelium-dependent relaxations in noradrenaline-contracted rat superior and small mesenteric arteries. In rat superior mesenteric arteries, oleanolic acid induced simultaneous increases in NO concentration and relaxation, and these responses were inhibited by an inhibitor of NOS, asymmetric dimethyl-L-arginine (300 microM) and by the NO scavenger, oxyhaemoglobin (10 microM). Oleanolic acid-evoked NO increases were not reduced in Ca(2+)-free solution and in the presence of an inhibitor of endoplasmic reticulum calcium-ATPase, thapsigargin (1 microM). Oleanolic acid evoked relaxation without changes in endothelial cell calcium, but decreased smooth muscle calcium in arterial segments. Oleanolic acid failed to increase calcium in HUVECs, but increased time-dependently phosphorylation of Akt kinase at Serine(473) (Akt-Ser(473)) and eNOS at Serine(1177) (eNOS-Ser(1177)), which was attenuated by inhibitors of phosphoinositide-3-kinase. CONCLUSIONS AND IMPLICATIONS: This study provides direct evidence that a component of olive oil, oleanolic acid, activated endothelium-dependent release of NO and decreased smooth muscle cell calcium followed by relaxation. The oleanolic acid-evoked endothelium-derived NO release was independent of endothelial cell calcium and involved phosphoinositide-3-kinase-dependent phosphorylation of Akt-Ser(473) followed by phosphorylation of eNOS-Ser(1177).


Subject(s)
Calcium/metabolism , Endothelium, Vascular/drug effects , Nitric Oxide/metabolism , Oleanolic Acid/pharmacology , Animals , Dose-Response Relationship, Drug , Endothelium, Vascular/metabolism , Humans , Male , Mesenteric Arteries/drug effects , Mesenteric Arteries/metabolism , Nitric Oxide Synthase Type III/drug effects , Nitric Oxide Synthase Type III/metabolism , Oleanolic Acid/administration & dosage , Olive Oil , Phosphatidylinositol 3-Kinases/metabolism , Phosphorylation/drug effects , Plant Oils/chemistry , Proto-Oncogene Proteins c-akt/drug effects , Proto-Oncogene Proteins c-akt/metabolism , Rats , Rats, Wistar , Umbilical Veins
18.
Gac méd espirit ; 10(1)ene-abr, 2008.
Article in Spanish | CUMED | ID: cum-36021

ABSTRACT

La cefalea postpunción dural es una complicación postoperatoria que se describe con relativa frecuencia, variando su presentación según determinados factores de riesgo, por lo que se define como objetivo de la investigación identificar el comportamiento de la cefalea postpunción dural en pacientes intervenidos quirúrgicamente durante 2 años en el Hospital General de Trinidad, para ello se realizó un estudio descriptivo, prospectivo, que incluyó 940 pacientes intervenidos quirúrgicamente.(AU)


Subject(s)
Headache , Spinal Puncture , Ambulatory Surgical Procedures
19.
Gac méd espirit ; 10(1)ene-abr, 2008.
Article in Spanish | CUMED | ID: cum-36019

ABSTRACT

En la práctica diaria se han observado los efectos adversos propios de la anestesia general intravenosa, así como de las ventajas del bloqueo anestésico paracervical durante la aspiración y el legrado endouterino, por lo que el objetivo de este trabajo es comparar los resultados de este proceder al emplear bloqueo anestésico paracervical o anestesia general intravenosa, para ello el material y método fue el estudio analítico, prospectivo, llevado a cabo en la Unidad de Legrados del Hospital General de Trinidad, en el período comprendido desde 1ro de enero hasta el 31 de diciembre del 2006(AU)


Subject(s)
Anesthesia, Intravenous , Vacuum Curettage
20.
Prog. diagn. trat. prenat. (Ed. impr.) ; 19(2): 59-63, abr.-jun. 2007. ilus, tab
Article in Es | IBECS | ID: ibc-68605

ABSTRACT

El síndrome de Wolf-Hirschhorn (SWH) está producido poruna deleción a nivel del brazo corto del cromosoma 4 (4p–). Existe una amplia variación en el tamaño de la deleción, correlacionándose el defecto citogenético con el fenotipo. La búsqueda de unos criterios ecográficos mínimos permitirán la orientación diagnóstica de este síndrome en el estudio prenatal. Presentamos un caso de una paciente que al realizar la ecografía selectiva en la semana 21 de gestación muestra oligoamnios y cardiopatía congénita. El estudio citogenético yla hibridación in situ fluorescente (HISF) (fluorescent in situ hybridization [FISH]) reveló la presencia de una deleción del brazo corto de cromosoma 4: 46,XX,del(4)(p14). Los padres optaron por interrumpir el embarazo y se realizó estudio necrósico al feto que mostró signos dismórficos craneofaciales típicos de SWH, así como malformaciones cardíacas. El diagnóstico prenatal del SWH se realiza habitualmente en fetos en los que se realiza cariotipo por indicaciones de rutinapara análisis cromosómico o por retraso de crecimiento intrauterino con o sin otras anomalías asociadas. Nosotros relacionamos nuestros hallazgos ecográficos: defectos de la línea media (defectos cardíacos septales) y oligoamnios como signos orientativos para el diagnóstico prenatal del SWH


Wolf-Hirschhorn syndrome (WHS) is a well-knowchromosomal disorder attributable to partial deletion ofthe short arm of chromosome 4 (4p–). We found ample variations in both the size of the deletions and the position of the respective breakpoints. Search of minimun ecographic criteria will make possible a diagnostic guide of such syndrome in prenatal studies. We report a case in which oligoamnios and congenital heart defects were detected by prenatal ultrasound examination at 21 weeks of gestation. Cytogenetic and FISH analysis of the cultured amniocytes revealed a 46,XX,del(4p14) karyotype. The parents opted to terminate the pregnancy. Fetopathological examinationshowed typical craneofacial dysmorphic signs of WHS andsevere congenital heart defects. Prenatal diagnosis of WHS has only been occasionally reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies. The associated sonographic signs of midline fusion defects (cardiac septal defects) and oligoamnios, may help to refine specific cytogenetic analysis taking into consideration 4p– syndrome


Subject(s)
Humans , Female , Pregnancy , Adult , Chromosome Deletion , Heart Defects, Congenital/diagnosis , Prenatal Diagnosis/methods , Amniotic Fluid/cytology , Chromosomes, Human, Pair 4/genetics , Facies , Tetralogy of Fallot/diagnosis
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