25 results on '"Parrón Pajares M"'
Search Results
2. Utilidad de las pruebas de imagen en las complicaciones por la ingestión de pilas de botón en niños
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Buitrago Sánchez, N.M., Serra del Carpio, G., Oterino Serrano, C., Alonso Gamarra, E., Bret Zurita, M., and Parrón Pajares, M.
- Abstract
[Display omitted]
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- 2024
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3. Tumores vasculares articulares
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Parrón Pajares, M., primary and López Gutiérrez, J.C., additional
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- 2012
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4. Cutaneous, Mediastinal and Hepatic Hemangiomas in a Girl Followed During 12 Years
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Pascual-Castroviejo, I., primary, Parrón Pajares, M., additional, Pascual-Pascual, S.-I., additional, Jara, P., additional, and Velázquez-Fragua, R., additional
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- 2011
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5. Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia
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Ramírez Balza, O., primary, García-Guereta, L., additional, Rubio Vidal, M.D., additional, del Cerro Marín, M.J., additional, and Parrón Pajares, M., additional
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- 2010
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6. Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.
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Campillo-Ajenjo M, Pena-Burgos EM, Herrero Ruiz B, Escuer Albero G, Rubio Aparicio P, Parrón Pajares M, Bret Zurita M, Regojo-Zapata RM, Bartha Rasero JL, and Antolín Alvarado E
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- Humans, Female, Pregnancy, Adrenal Gland Neoplasms, Adult, Pregnancy Complications, Neoplastic pathology, Placenta pathology, Hydrops Fetalis, Neuroblastoma
- Abstract
Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions., (© 2024 Japan Society of Obstetrics and Gynecology.)
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- 2024
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7. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
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Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, and Heath KE
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- Child, Adult, Humans, Radiography, Exons, Amino Acids, Neoplasm Proteins, Ribosomal Proteins genetics, Osteochondrodysplasias diagnostic imaging, Osteochondrodysplasias genetics
- Abstract
Spondyloepimetaphyseal dysplasia (SEMD), RPL13-related is caused by heterozygous variants in RPL13, which encodes the ribosomal protein eL13, a component of the 60S human ribosomal subunit. Here, we describe the clinical and radiological evolution of 11 individuals, 7 children and 4 adults, from 6 families. Some of the skeletal features improved during the course of this condition, whilst others worsened. We describe for the first time "corner fractures" as a feature of this dysplasia which as with other dysplasias disappear with age. In addition, we review the heights and skeletal anomalies of these reported here and previously in a total of 25 individuals from 15 families. In this study, six different RPL13 variants were identified, five of which were novel. All were located in the apparently hotspot region, located in intron 5 and exon 6. Splicing assays were performed for two of the three previously undescribed splicing variants. Until now, all splice variants have occurred in the intron 5 splice donor site, incorporating an additional 18 amino acids to the mutant protein. Here, we report the first variant in intron 5 splice acceptor site which generates two aberrant transcripts, deleting the first three and four amino acids encoded by exon 6. Thus, this study doubles the number of SEMD-RPL13-related cases and variants reported to date and describes unreported age-related clinical and radiological features., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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- 2023
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8. Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia.
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Lledín MD, Parrón-Pajares M, Morais A, Hernández-Oliveros F, Botella-Carretero JI, and Hierro L
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Background: Sarcopenia in adult cirrhotic patients is associated with increased morbidity and mortality whereas in children it is still being studied. Anthropometric variables in cirrhotic children are not reliable for assessing muscle mass as they may be altered by ascites, edema, and organomegaly. Measuring the area of the psoas showed good correlation with muscle mass in adults. We aimed to study in cirrhotic infants undergoing liver transplantation the association of the psoas area with liver transplant prognosis as well as with several analytical and anthropometric parameters used to evaluate nutritional status., Methods: Retrospective cohort of 29 infants with cirrhosis due to biliary atresia who underwent abdominal CT scan as a pre-transplant study. We measured the psoas muscle index (PMI) at L4-L5 since it best correlates with muscle mass in pediatric patients. As there are no validated cut-off points to define sarcopenia in children under one year of age, PMI was recorded as a continuous variable and correlated with different prognostic, clinical, and analytical variables. The SPSS 17.0 package was used for statistical analysis and a P < 0.05 was considered significant., Results: 29 infants (10 boys, 19 girls) were studied. 62% were Caucasian and the rest were South American. The mean age at CT scan was 8.5 months (range 3-15 months). There was a negative correlation between PMI and days of admission prior to liver transplant, previous infections, and bone fractures. Among the analytical parameters, cholinesterase, albumin, and prealbumin correlated positively with PMI ( P < 0.05). No relationship was observed with anthropometric parameters: weight, height, BMI, brachial perimeter, or bioimpedance. During surgery, patients with lower PMI had a greater need for plasma transfusion, and in the immediate postoperative period, there was a longer stay in intensive care, more days of mechanical ventilation, and more days of hospital admission ( P < 0.05). On the contrary, no relationship was found with other complications: bleeding, re-interventions, biliary leaks, rejection, thrombosis, re-transplantation, or infections., Conclusions: The decrease in muscle mass is associated with increased morbidity in infants with biliary atresia undergoing liver transplantation. Muscle mass in these patients cannot be adequately assessed with anthropometric measurements commonly used in the clinic., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Lledin, Parrón-Pajares, Morais, Hernández-Oliveros, Botella-Carretero and Hierro.)
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- 2023
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9. Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.
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Diaz-Gonzalez F, Sacedo-Gutiérrez JM, Twigg SRF, Calpena E, Carceller-Benito FE, Parrón-Pajares M, Santos-Simarro F, and Heath KE
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Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1 . Although the majority of variants localize in the coding region of the gene, two variants in the 5' UTR have been recently reported to generate novel upstream initiation codons. Methods: Skeletal dysplasia Next-generation sequencing (NGS) panel was used for genetic analysis in a patient with bicoronal synostosis, facial dysmorphisms and limb anomalies. The variant pathogenicity was assessed by a luciferase reporter promoter assay. Results: Here, we describe the identification of a third ATG-creating de novo variant, c.-18C>T, in the 5' UTR of TWIST1 in the patient with a clinical diagnosis of Saethre-Chotzen syndrome. It was predicted to create an out-of-frame new upstream translation initiation codon resulting in a 40 amino acid larger functionally inactive protein. We performed luciferase reporter promoter assays to demonstrate that the variant does indeed reduce translation from the main open reading frame. Conclusion: This is the third variant identified in this region and confirms the introduction of upstream ATGs in the 5' UTR of TWIST1 as a pathogenic mechanism in Saethre-Chotzen syndrome. This case report shows the necessity for performing functional characterization of variants of unknown significance within national health services., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Diaz-Gonzalez, Sacedo-Gutiérrez, Twigg, Calpena, Carceller-Benito, Parrón-Pajares, Santos-Simarro and Heath.)
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- 2023
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10. Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus.
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Quintana-Ortega C, Remesal A, Vigara AP, Parrón-Pajares M, Bret M, Alcobendas R, and Murias S
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Thrombocytopenia is a common hematologic abnormality of childhood-onset systemic lupus erythematosus (cSLE). Although in most cases thrombocytopenia is mild, severe thrombocytopenia with bleeding complications might occur, and is further correlated with disease activity and a worse prognosis. We report two female patients with severe thrombocytopenia as the initial manifestation of cSLE, which were successfully treated by intensive immunosuppression including several high-dose methylprednisolone pulses and IV cyclophosphamide. Both patients were initially diagnosed with idiopathic thrombopenic purpura (ITP) refractory to conventional treatment and complicated with haemorrhagic manifestations. For this matter, patients with ITP should be assessed for the presence of ANA, anti-dsDNA antibodies, and complement levels, since they are at high risk to develop cSLE., Competing Interests: The authors declare no conflicts of interest., (© 2022 The Mediterranean Journal of Rheumatology (MJR).)
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- 2022
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11. Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
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Pacio-Miguez M, Parrón-Pajares M, Gordon CT, Santos-Simarro F, Rodríguez Jiménez C, Mena R, Rueda Arenas I, F Montaño VE, Fernández M, Solís M, Del Pozo Á, Amiel J, García-Miñaur S, and Palomares-Bralo M
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- HSP70 Heat-Shock Proteins genetics, Homozygote, Humans, Mitochondrial Proteins genetics, Phenotype, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities genetics, Osteochondrodysplasias diagnosis, Osteochondrodysplasias genetics, Tooth Abnormalities
- Abstract
EVEN-PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by HSPA9. This genetic disorder, presenting with several overlapping features with CODAS syndrome, is characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose (EVEN), PLUS associated findings. Only five individuals presenting with the EVEN-PLUS phenotype and biallelic variants in HSPA9 have been published. Here, we expand the phenotypic and molecular spectrum associated with this disorder, reporting two sibs with a milder phenotype and compound heterozygous pathogenic variants (a recurrent variant and a novel one). Also, we confirm a homozygous pathogenic variant in the family originally reported as EVE dysplasia., (© 2022 Wiley Periodicals LLC.)
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- 2022
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12. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
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Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, and Heath KE
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- Adolescent, Anthropometry, Child, Child, Preschool, Female, Genetic Variation, Growth Plate abnormalities, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Pedigree, Prevalence, Body Height genetics, Bone and Bones abnormalities, Dwarfism genetics, Osteochondrodysplasias genetics
- Abstract
Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies., Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies., Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect., Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n = 10) and IHH (n = 7) whilst one variant was detected in COL2A1, CREBBP, EXT1, and PTPN11. Statistically significant differences (P < 0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio standard deviation score (SDS), and the SH/H ratio SDS >1 in those with an identified variant compared to those without., Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.
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- 2021
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13. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
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Bonilla-Fornés S, Galán-Ledesma L, Pérez PM, Modamio-Høybjør S, Carbonell-Pérez JM, Parrón-Pajares M, Heath KE, and Galán-Gómez E
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- Bones of Lower Extremity diagnostic imaging, Child, Preschool, Codon, Nonsense, Gait, Humans, Limb Deformities, Congenital diagnostic imaging, Limb Deformities, Congenital pathology, Male, Matrix Metalloproteinase 9 genetics, Osteochondrodysplasias diagnostic imaging, Osteochondrodysplasias pathology, Phenotype, Spine diagnostic imaging, Limb Deformities, Congenital genetics, Osteochondrodysplasias genetics
- Abstract
Metaphyseal anadysplasia is a very rare hereditary skeletal dysplasia with onset occurring normally during the second and third years of life, but unlike many other dysplasias, symptoms appear to resolve by adolescence. Two types exist, the more severe form, type 1, with both autosomal dominant and recessive inheritance due to pathogenic variants in MMP13, whilst type 2, an even rarer form is due to biallelic MMP9 variants. To date, only two metaphyseal anadysplasia type 2 families have been reported. We describe a third family, a young boy, born to consanguineous parents, referred at 19 months old for abnormal gait due to bowed legs. Clinical and radiological examination revealed scoliosis, genu varum and metaphyseal abnormalities. A homozygous MMP9 nonsense variant, NM_004994.2:c.1764G>A; p.(Trp588*) was identified. By the age of 39 months, lower limb alignment and metaphyseal features had already significantly improved and scoliosis had disappeared. This case confirms that biallelic MMP9 variants cause this very rare skeletal dysplasia, metaphyseal anadysplasia type 2 but also shows that the skeletal manifestations can improve within a short period time and at an early age., (Copyright © 2021. Published by Elsevier Masson SAS.)
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- 2021
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14. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
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Del Pino M, Sanchez-Soler MJ, Parrón-Pajares M, Aza-Carmona M, Heath KE, and Fano V
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- Adult, Child, Female, Humans, Loss of Function Mutation, Male, Odontodysplasia diagnostic imaging, Odontodysplasia pathology, Osteochondrodysplasias diagnostic imaging, Osteochondrodysplasias pathology, Cytoskeletal Proteins genetics, Odontodysplasia genetics, Osteochondrodysplasias genetics, Phenotype
- Abstract
More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene implicated in the lethal disorder achondrogenesis (ACG1A). Here we report the clinical and radiological follow-up of four ODCD patients, including two siblings and an adult who interestingly has the mildest form observed to date. Four TRIP11 variants were detected, two previously unreported. Subsequently, we review the clinical and radiological findings of the 14 reported ODCD patients. The majority of ODCD patients are compound heterozygotes for TRIP11 variants, 12/14 have a null allele and a splice variant whilst one is homozygous for an in-frame splicing variant, with the splice variants resulting in residual GMAP activity and hypothesized to explain why they have ODCD and not ACG1A. However, adult patient 4 has two potentially null alleles and it remains unknown why she has very mild clinical features. The c.586C>T; p.(Gln196*) variant, previously shown by mRNA studies to result in p.Val105_Gln196del, is the most frequent variant, present in seven individuals from four families, three from different regions of the world, suggesting that it may be a variant hotspot. Another variant, c.2993_2994del; p.(Lys998Serfs*5), has been observed in two individuals with a possible common ancestor. In summary, although there are clinical and radiological characteristics common to all individuals, we demonstrate that the clinical spectrum of TRIP11-associated dysplasias is even more diverse than previously described and that common genetic variants may exist., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
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- 2021
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15. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, and Santos-Simarro F
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- Bone Diseases, Developmental diagnostic imaging, Bone Diseases, Metabolic genetics, Child, Preschool, Consanguinity, Developmental Disabilities genetics, Dysautonomia, Familial genetics, Exostoses, Multiple Hereditary genetics, Exostoses, Multiple Hereditary pathology, Female, Genotype, Humans, Infant, Infant, Newborn, Leukemia Inhibitory Factor Receptor alpha Subunit deficiency, Male, Muscle Hypotonia genetics, Osteochondrodysplasias genetics, Osteochondrodysplasias pathology, Phenotype, Roma genetics, Survivors, Abnormalities, Multiple genetics, Bone Diseases, Developmental genetics, Exostoses, Multiple Hereditary diagnostic imaging, Leukemia Inhibitory Factor Receptor alpha Subunit genetics, Osteochondrodysplasias diagnostic imaging
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Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). Common clinical and radiological findings are often observed, and high neonatal mortality occurs due to respiratory distress and hyperthermic episodes. Despite initially considered as a lethal disorder during the newborn period, in recent years, several SWS childhood survivors have been reported. We report a detailed clinical and radiological characterization of four unrelated childhood SWS molecularly confirmed patients and review 22 previously reported childhood surviving cases. We contribute to the definition of the childhood survival phenotype of SWS, emphasizing the evolving phenotype, characterized by skeletal abnormalities with typical radiological findings, distinctive dysmorphic features, and dysautonomia. Based on the typical features and clinical course, early diagnosis is possible and crucial to plan appropriate management and prevent potential complications. Genetic confirmation is advisable in order to improve genetic counseling to the patients and their families., (© 2020 Wiley Periodicals LLC.)
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- 2021
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16. [Chronic constipation due to Currarino syndrome].
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Buitrago Sánchez NM, Saceda Gutiérrez JM, Esteban Rodríguez MI, and Parrón Pajares M
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- Child, Preschool, Humans, Male, Rectum abnormalities, Sacrum abnormalities, Syringomyelia, Anal Canal abnormalities, Constipation etiology, Digestive System Abnormalities
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- 2020
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17. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
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Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, and Sousa AB
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- Child, Humans, Male, Osteochondrodysplasias genetics, Osteochondrodysplasias pathology, Collagen Type II genetics, Mutation, Osteochondrodysplasias congenital, Phenotype
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Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. We describe an 8-year-old boy who presented with short trunk, C2-C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, and waddling gait. Radiographs showed platyspondyly with anterior wedging and endplate irregularities, broad femoral necks, and large epiphyses and epiphyseal equivalents. Differential diagnosis included progressive pseudorheumatoid dysplasia and SED-S. A skeletal dysplasia custom-designed NGS panel was performed and the heterozygous pathogenic variant c.620G>A; p.(Gly207Glu) in COL2A1 was detected, establishing the diagnosis of SED-S. Vertebral fusions, observed in our patient, have not been previously described in this dysplasia. This variant has not been previously associated with SED-S, but was reported in two other families with spondyloepiphyseal dysplasia. Thus, this case expands the clinical and mutational spectrum of SED-S and demonstrates that SED-S significantly overlaps with other skeletal dysplasias., (© 2020 Wiley Periodicals LLC.)
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- 2020
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18. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
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Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, and Ehmke N
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- Adolescent, Adult, Child, Child, Preschool, Facies, Female, Fingers diagnostic imaging, Fingers pathology, Hallux Valgus diagnostic imaging, Hallux Valgus pathology, Humans, Pierre Robin Syndrome diagnostic imaging, Pierre Robin Syndrome pathology, Exome Sequencing, Young Adult, Fingers abnormalities, Genetic Predisposition to Disease, Hallux Valgus genetics, Pierre Robin Syndrome genetics, Repressor Proteins genetics
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Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventilation, and the remaining presenting with variable pulmonary phenotypes, including one individual without any obvious pulmonary manifestations. Our findings widen the phenotype spectrum caused by the recurrent pathogenic variant in ERF, underline Chitayat syndrome as a cause of isolated skeletal malformations and therefore contribute to the improvement of diagnostic strategies in individuals with hand hyperphalangism., (© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
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- 2020
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19. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
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Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, and Heath KE
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- Adolescent, Brachydactyly diagnosis, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Hand diagnostic imaging, Humans, Infant, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Radiography, Body Height genetics, Brachydactyly genetics, Hedgehog Proteins genetics
- Abstract
Context: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in individuals with short stature and mild skeletal anomalies has been increasing over recent years, allowing us to broaden the clinical spectrum of skeletal dysplasias., Objective: The objective of this article is to describe the genotype and phenotype of 16 probands with heterozygous variants in IHH., Patients and Methods: Targeted next-generation sequencing or Sanger sequencing was performed in patients with short stature and/or brachydactyly for which the genetic cause was unknown., Results: Fifteen different heterozygous IHH variants were detected, one of which is the first reported complete deletion of IHH. None of the patients showed the classical phenotype of brachydactyly type A1. The most frequently observed clinical characteristics were mild to moderate short stature as well as shortening of the middle phalanx on the fifth finger. The identified IHH variants were demonstrated to cosegregate with the short stature and/or brachydactyly in the 13 probands whose family members were available. However, clinical heterogeneity was observed: Two short-statured probands showed no hand radiological anomalies, whereas another 5 were of normal height but had brachydactyly., Conclusions: Short stature and/or mild skeletal hand defects can be caused by IHH variants. Defects in this gene should be considered in individuals with these findings, especially when there is an autosomal dominant pattern of inheritance. Although no genotype-phenotype correlation was observed, cosegregation studies should be performed and where possible functional characterization before concluding that a variant is causative., (© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2020
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20. First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
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Díaz-González F, Parrón-Pajares M, Barcia-Ramirez A, and Heath KE
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- Female, Hand Deformities, Congenital etiology, Humans, Infant, Newborn, Prognosis, Syndactyly etiology, Synostosis etiology, Basic Helix-Loop-Helix Transcription Factors genetics, Finger Phalanges abnormalities, Hand Deformities, Congenital pathology, Heterozygote, Mutation, Missense, Syndactyly pathology, Synostosis pathology
- Abstract
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in BHLHA9 associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in BHLHA9: NM_001164405.1: c.[226A>T][269G>C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family., (© 2020 Wiley Periodicals, Inc.)
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- 2020
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21. [Inferior vena cava compression in children with pectus excavatum].
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Dore Reyes M, Bret Zurita M, Triana Junco P, Jiménez Gómez J, Parrón Pajares M, Serradilla Rodríguez J, Encinas Hernández JL, Martínez Martínez L, López-Santamaría M, and de la Torre Ramos C
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- Adolescent, Case-Control Studies, Child, Constriction, Pathologic diagnostic imaging, Constriction, Pathologic etiology, Female, Funnel Chest diagnostic imaging, Humans, Male, Retrospective Studies, Sex Factors, Tomography, X-Ray Computed, Vena Cava, Inferior diagnostic imaging, Funnel Chest complications, Vena Cava, Inferior pathology
- Abstract
Introduction: In severe cases of pectus excavatum (PE) the sternal depression may cause distortion of the cardiac chambers and great vessels. The aim of our study was to determine if the sternal impingement causes significant inferior vena cava (IVC) compression., Methods: Retrospective study of patients with severe PE assessed between 2015-2017. The antero-posterior (AP) and transverse diameters of the suprahepatic IVC were measured on a cardiac-MRI at the level of the diaphragmatic hiatus. Results were compared with patients that had a thoracic image study performed for other causes, adjusting for age and sex., Results: Among the 81 patients, 28 cases and 53 controls, 63% were males and had a mean age of 12.9±0.5 yrs. Significant differences were found between groups in both AP and transverse diameter of the IVC: 13.3±0.75 mm vs. 15.8±0.76 mm (p=0.001) and 28.8±1.34 mm vs. 27.1±0.89mm (p=0.045) respectively. After adjusting for age and sex, these differences were only statistically significant for AP IVC diameter in males 12.7±0.5 mm (95% CI 11.66-13.79 mm) vs. 16.6±0.5 mm (95% CI 15.69-17.56 mm) (p=0.000). The Pearson correlation coefficient for the Haller index was r=0.471 (p=0.01)., Conclusion: Male patients with severe sternal depression show changes in the IVC diameter that may correspond to compression. These changes are correlated with the severity of the deformity and can justify certain clinical symptoms and cardiac function abnormalities in patients with severe PE.
- Published
- 2019
22. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
- Author
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Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, and Heath KE
- Subjects
- Adolescent, Child, Child, Preschool, Female, Heterozygote, Humans, Infant, Male, Mutation genetics, Aggrecans genetics, Brachydactyly genetics
- Abstract
Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis., Design and Methods: This study involves clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2). Subsequently, we reviewed the literature to determine the frequency of the different clinical characteristics in ACAN-positive individuals., Results: A total of 16 ACAN variants were located throughout the gene, six pathogenic mutations and 10 variants of unknown significance (VUS). Interestingly, brachydactyly was observed in all probands. Probands from group 1 with a pathogenic mutation tended to be shorter, and 60% had an advanced BA compared to 0% in those with a VUS. A higher incidence of coxa valga was observed in individuals with a VUS (37% vs 0%). Nevertheless, other features were present at similar frequencies., Conclusions: ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with brachydactyly, and in patients with spondyloepiphyseal dysplasia. It is also important to note that advanced BA and osteoarticular complications are not obligatory conditions for aggrecanopathies/aggrecan-associated dysplasias., (© 2018 John Wiley & Sons Ltd.)
- Published
- 2018
- Full Text
- View/download PDF
23. [Benefits of magnetic resonance for the study of pectus excavatum in children: initial experience].
- Author
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Dore Reyes M, De La Torre C, Bret Zurita M, Triana Junco P, Jiménez Gómez J, Romo Muñoz M, Vilanova Sánchez A, Parrón Pajares M, Pérez Vigara A, Encinas Hernández JL, Martínez Martínez L, Hernández Oliveros F, and López-Santamaría M
- Subjects
- Adolescent, Child, Female, Funnel Chest complications, Humans, Male, Retrospective Studies, Echocardiography methods, Funnel Chest diagnostic imaging, Magnetic Resonance Imaging methods, Ventricular Function, Right physiology
- Abstract
Introduction/aim of the Study: In patients with PE, cardiovascular alterations ensue as a result of the mediastinum compression caused by sternum impingement and is responsible of many of the symptoms. Anatomical and functional assessment is of the utmost importance for a comprehensive understanding of the disease and an adequate treatment plan. Our aim was to describe the use of magnetic resonance image (MRI) in the study of PE and whether it is comparable to imaging techniques., Patients and Methods: A retrospective study of the first 10 patients in which an MRI was performed as part of PE assessment within august 2015-2016. PE indexes were evaluated: Haller, correction, asymmetry, as well as sternal rotation. An analysis of right ventricular function was carried out comparing echocardiogram and MRI., Results: MRI scan on 10 patients showed the following findings: Haller index: inspiration: 3.75 (3.5-7.3) and expiration 4,9 (3.9-10.8), correction index of 24% (5-37%) and a sternal rotation of 12º (0-31º). The cardiovascular study showed a median ejection fraction of the right ventricle (EFRV) of 50% (38-64%), with 9 of the 10 patients under the normal value of 61% (54-71%). Echocardiographic findings underestimated functional alterations in all of the patients., Conclusion: This initial study suggests that the use of MRI as a test of choice in the evaluation of PE subject to surgical correction is feasible. Absence of radiation offers the capacity of a complete and dynamic anatomical as well as cardiovascular study.
- Published
- 2017
24. [Vascular tumors in the joints].
- Author
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Parrón Pajares M and López Gutiérrez JC
- Subjects
- Female, Humans, Male, Bone Neoplasms diagnosis, Joint Diseases diagnosis, Magnetic Resonance Imaging, Muscle Neoplasms diagnosis
- Published
- 2012
- Full Text
- View/download PDF
25. [High-resolution computed tomography patterns of organizing pneumonia].
- Author
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Bravo Soberón A, Torres Sánchez MI, García Río F, Sánchez Almaraz C, Parrón Pajares M, and Pardo Rodríguez M
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Cryptogenic Organizing Pneumonia diagnostic imaging, Tomography, X-Ray Computed methods
- Abstract
Organizing pneumonia is an uncommon lung disease with a wide variety of radiologic findings, few of which have been discussed in the literature. We performed high resolution computed tomography on 34 patients with a histological diagnosis of organizing pneumonia and studied the images they presented. Twenty-five of the cases were idiopathic and 9 secondary. The findings observed were parenchymal consolidation (76%), ground glass opacity (59%), bronchial dilatation (53%), centrilobular nodules (35%), septal thickening (23%), halo sign (15%), and reversed halo sign (12%). Secondary cases presented more findings of septal thickening and fewer complete remissions.
- Published
- 2006
- Full Text
- View/download PDF
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