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1.
Medicine (Baltimore) ; 98(42): e17413, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626096

RESUMO

INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever. DIAGNOSIS: Diagnosis of VACTERL association was finally made. Bronchoscopy and chest CT with computed tomography angiography confirmed multiple airway abnormalities including bridging bronchus, airway malacia, and complete tracheal rings. INTERVENTIONS: Supplemental oxygen was provided and antibiotics was initiated. OUTCOMES: The patient resolved gradually and was discharged 10 days later. The follow-up showed the patient has remained well just with mild psychomotor retardation. CONCLUSION: Multiple airway anomalies may be seen in VACTERL association. It is worthwhile to make special note for evaluating the tracheobronchial pulmonary system by chest CT and bronchoscopy, especially patients presenting with breathing anomalies.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Manuseio das Vias Aéreas/métodos , Broncoscopia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/terapia , Humanos , Lactente , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/terapia , Masculino , Oxigenoterapia , Tórax/anormalidades , Tórax/diagnóstico por imagem , Tibet , Tomografia Computadorizada por Raios X
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1025-1027, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598952

RESUMO

OBJECTIVE: To explore the genetic basis for a child affected with multiple malformations. METHODS: Genomic DNA was extracted from peripheral blood samples from the child and her parents. Tro whole exome sequencing and bioinformatics analysis were carried out. Suspicted mutations were verified by PCR and Sanger sequencing. RESULTS: The patient, a 2-year-old girl, presented with multiple malformations including dysmorphism, skeletal malformations and ambigulous genitalia. Through genetic testing, she was diagnosed with Antley-Bixler syndrome caused by compound heterozygous mutations of the POR gene (c.919G>T and c.1615G>A), which were derived from her mother and father, respectively. CONCLUSION: The compound heterozygous mutations of the POR gene probably underlie the Antley-Bixler syndrome in this patient.


Assuntos
Anormalidades Múltiplas/genética , Fenótipo de Síndrome de Antley-Bixler/genética , Sistema Enzimático do Citocromo P-450/genética , Pré-Escolar , Feminino , Humanos , Mutação , Sequenciamento Completo do Exoma
3.
Medicine (Baltimore) ; 98(39): e17342, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574874

RESUMO

RATIONALE: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations. PATIENT CONCERNS: We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes. DIAGNOSIS: He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies. INTERVENTIONS: After the initial diagnosis, the patient received intensive insulin therapy to correct hyperglycemia, and he received calcium and vitamin D supplements. The patient also received testosterone and thyroid hormone replacement therapy for primary hypogonadism. OUTCOMES: The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled. LESSONS: The combination of cleft palate, hypothyroidism, cataracts, diabetes, and osteoporosis in 49,XXXXY syndrome has not yet been reported. Early treatment and appropriate care can significantly improve the patient's quality of life and prevent serious consequences.


Assuntos
Catarata/congênito , Fissura Palatina/genética , Hipotireoidismo Congênito/genética , Diabetes Mellitus/congênito , Transtornos dos Cromossomos Sexuais/complicações , Anormalidades Múltiplas/genética , Aneuploidia , Cromossomos Humanos X/genética , Humanos , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Adulto Jovem
4.
Zhonghua Er Ke Za Zhi ; 57(9): 705-709, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530357

RESUMO

Objective: To characterize the clinical features and outcomes of scimitar syndrome (SS) to aid the understanding of this syndrome. Methods: This retrospective study included 6 children who were diagnosed with SS at the pediatric cardiovascular center of Beijing Anzhen Hospital from January 2012 to September 2018. SS was diagnosed by echocardiography and confirmed by cardiac computed tomography angiography(CTA) or surgery. All data were collected to analyze the clinical and imaging characteristics and prognosis. Results: Among the 6 SS children (aged 2 months to 15 years; 5 males) weighed 5.6-17.1 kg. Three cases were infant type, the clinical manifestations were recurrent respiratory tract infection with growth retardation, including 2 cases with severe pulmonary hypertension, while 3 cases with adult type, were asymptomatic. Cardiac CTA imaging showed that the right single or all pulmonary veins descended through the diaphragm and converged into the inferior vena cava. One case was isolated infracardiac partial anomalous pulmonary venous connection (PAPVC) without other malformations. The remaining 5 cases complicated with atrial septal defect, different vascular and trachea malformations as well as spinal malformations. Vascular malformations included pulmonary veins stenosis, abnormal origin of pulmonary artery branches, collateral branches of systemic artery supplying local lung tissue, and persistent left superior vena cava. The treatment varied according to the specific location of anomalous pulmonary venous connection, the degree of pulmonary hypertension and the severity of clinical symptoms. Four cases underwent one-stage radical surgery, one case accepted intervention to occlude the collateral artery which was supplying the right lower lung and received stage Ⅱ radical surgery half a year later, and the remaining one case died from pulmonary hypertension crisis preoperation. Conclusions: Isolated SS can easily miss diagnosis due to mild clinical symptoms. Patients with complicated malformations can benefit from combination therapy. SS associated with severe pulmonary hypertension can lead to early death. Therefore, early diagnosis and appropriate treatment can improve the prognosis of patients.


Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de Cimitarra/diagnóstico , Adolescente , Criança , Pré-Escolar , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/complicações , Humanos , Lactente , Masculino , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Infecções Respiratórias/complicações , Estudos Retrospectivos , Síndrome de Cimitarra/etiologia , Síndrome de Cimitarra/mortalidade , Síndrome de Cimitarra/terapia
5.
Int Heart J ; 60(5): 1226-1229, 2019 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-31484871

RESUMO

This paper presents two cases of human hearts (a 75-year-old woman and an 88-year-old man) with double posterior descending arteries (PDA) of various sizes originating from the right coronary artery, mainly supplying the interventricular septum as well as the posterior walls of both heart ventricles in a different scope. In the analysis of the arterial vasculature, a range of aspects were considered, such as the point of exit of the right coronary artery, the course of the vessel, the range of the blood supply of the interventricular septum and both ventricles, as well as selected morphometric parameters that were simultaneously compared with one another. These atypical changes presented based on the example of the analyzed cases will certainly constitute a valuable source of information for cardiac surgeons and interventional cardiologists in planning operations.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anomalias dos Vasos Coronários/diagnóstico , Cardiopatias Congênitas/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Cadáver , Dissecação , Feminino , Humanos , Masculino , Doenças Raras , Septo Interventricular/patologia
6.
Pol J Pathol ; 70(1): 33-41, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31556549

RESUMO

We present an analysis of two first historically documented limb body wall complex (LBWC) cases and our own contemporary perinatal autopsy series of this rare complex. So far it was supposed that the first case of this complex was reported in 1685 by Paul Portal. Studying the Joachim Oelhaf's autopsy report from 1613 with attached engraving showing the neonate with multiple birth defects led our research team to a conclusion that it was genuinely the first description of LBWC in the medical literature so far. We compared the Oelhaf's case from 1613 and the Portal's autopsy report from 1685 with our series of LBWC cases dissected in the Medical University of Gdansk between 1999 and 2011. Reviewing 1100 autopsy reports performed we encountered 9 cases of this unique complex. The analysis was supported by the literature review.


Assuntos
Anormalidades Múltiplas/história , Deformidades Congênitas dos Membros/história , Autopsia , Feminino , História do Século XVII , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Gravidez
7.
Artigo em Chinês | MEDLINE | ID: mdl-31446696

RESUMO

Objective:To make the molecular diagnosis of a patient complaining hearing loss and with specific facial features, developmental delay, vertebral dysplasia, hypotonia and other suspected phenotypes of Kabuki make-up syndrome(KS); to investigate the characteristics and main phenotypes of KS. Method:①Whole-exome sequencing and bioinformatics analysis were performed for proband and her parents. ②Literatures describing the clinical features of KS patients with clear molecular diagnosis from the period of Aug 2010 to Mar 2019 were collected from databases of PubMed and CNKI. Result:①The proband carries the c. 15777insT variant(p. Pro5260fs*10) in KMT2D gene. The variant causes the termination codon to appear prematurely. KMT2D c. 15777insT was classified as PVS1+PS1+PM2 according to the ACMG variation interpretation standard, which is a disease-causing mutation. The c. 15777insT was first reported as a pathogenic mutation of KS. ②77 peer-reviewed publications on KS were analysed including 462 patients with KS. The main findings were intellectual disability(305 cases), congenital heart defects(227 cases), hypotonia(184 cases), short fingers(147 cases), short stature(144 cases), cleft palate(139 cases), hearing loss(101 cases) and developmental delay(99 cases). Of the 101 patients with hearing loss, 11 were confirmed to have conductive hearing loss(1 with recurrent otitis media), 3 with mixed hearing loss, 12 with sensorineural deafness(1 with recurrence otitis media) and 75 patients with unidentified types of deafness(28 with recurrent otitis media). Conclusion:KS involves defects of a wide range of organs, with each organ showing different severity of symptoms, which is easily misdiagnosed from the phenotypes. We suggest the diagnosis on hearing loss in KS patients should be strengthened. KMT2D and KDM6A are two pathogenic genes that have been identified for KS. With the increase of age, its typical clinical phenotypes become more and more obvious. When there is only atypical suspected KS symptoms in the early neonatal period, relevant genetic test should be performed as soon as possible to achieve early diagnosis and intervention.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Perda Auditiva/etiologia , Doenças Hematológicas/complicações , Doenças Hematológicas/genética , Proteínas de Neoplasias/genética , Doenças Vestibulares/complicações , Doenças Vestibulares/genética , Feminino , Humanos , Mutação , Fenótipo
8.
An Bras Dermatol ; 94(3): 341-343, 2019 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-31365666

RESUMO

CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.


Assuntos
Anormalidades Múltiplas/tratamento farmacológico , Anticolesterolemiantes/administração & dosagem , Colesterol/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Eritrodermia Ictiosiforme Congênita/tratamento farmacológico , Deformidades Congênitas dos Membros/tratamento farmacológico , Lovastatina/administração & dosagem , Anormalidades Múltiplas/genética , Administração Tópica , Colesterol/biossíntese , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Lactente , Deformidades Congênitas dos Membros/genética , Doenças Metabólicas/genética
9.
Medicine (Baltimore) ; 98(33): e16745, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415370

RESUMO

RATIONALE: Malformative uropathies represent a major cause of Chronic Kidney Disease (CKD) in children. Genitourinary system is the most frequent and sever affected in Prune-Belly syndrome cases. That is why the findings of early diagnosis and vigilant monitoring for these situations remain a major challenge for the medical team. PATIENT CONCERNS: We present the clinical course of a 10 years old child with diagnosis of Prune-Belly syndrome. A urinary tract abnormality was suspected starting 25 weeks of gestation, when a routine ultrasound showed oligohydramnios, increased size urinary bladder, bilateral hydronephrosis and megaureters, thin abdominal wall. DIAGNOSIS: Prenatal suspicion of Prune-Belly syndrome plays a deciding role in renal disease progression. A detailed clinical exam at birth established the diagnosis of Prune-Belly syndrome. Renal ultrasound confirmed bilateral grade III hydronephrosis and megaureters, with empty bladder, suggesting an obstruction at this level. A persistent urachus was confirmed by catheterization. Later it was used for imaging study that showed bilateral high grade reflux. INTERVENTIONS: The main goal of any treatment is to preserve kidney function. Treatment options depend on the clinical picture. The pregnancy was closely monitorized, but fetal distress appeared so early labor was induced at 32 weeks. At beginning a temporary catheter was placed into the urachus which expressed urine. The urachus drain was left in place until the age of 6 weeks, when a bilateral ureterostomy was performed. Skeletal and genital malformations were present too; the child has undergone several surgeries to solve these abnormalities. OUTCOMES: At the age of 10 years, he is a well-adapted child. He has had fewer than 3 urinary tract infections per year. Long term follow-up showed a relatively slow decline in the estimated Glomerular Filtration Rate in our child (62 ml/1.73m/min). LESSONS: This case suggests that induced early labor could prove beneficial for early upper urinary tract decompression through earlier access to surgery. This is an option especially in situations or region where vesicoureteric or vesicoamniotic shunt placement is not available.


Assuntos
Síndrome do Abdome em Ameixa Seca/diagnóstico por imagem , Insuficiência Renal Crônica/terapia , Anormalidades Múltiplas , Criança , Diagnóstico Diferencial , Seguimentos , Humanos , Masculino , Síndrome do Abdome em Ameixa Seca/complicações , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico , Ultrassonografia Pré-Natal
10.
Arkh Patol ; 81(4): 48-52, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31407718

RESUMO

OBJECTIVE: To study the trend in the incidence and nosological structure of congenital malformations (CMFs) in the fetuses and babies of the Kyzylorda Region (Aral Sea Region) of the Republic of Kazakhstan in the period 2016-2018. MATERIAL AND METHODS: Over 2016-2018, the investigators analyzed 550 childbirth histories, the protocol (records) of autopsy in fetuses and babies who had died at the maternity hospitals and children's hospitals of the Kyzylorda Region (Aral Sea Region, Kazakhstan). RESULTS: Throughout the follow-up period, the structure of CMFs in the Kyzylorda Region, the Republic of Kazakhstan, was found to have 3 major systemic defects: multiple defects; cardiovascular defects, and central nervous system defects, which can be considered as an indicator for environmental problems in the region. There was a preponderance of hydrocephalus and anencephaly among the CMF of the central nervous system and that of interventricular and interatrial septal defects and combined defects among the cardiovascular CMFs. In the considered period of time, malformations of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. In the considered period of time, defects of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. The postmortem findings indicated that the conformity of clinical and postmortem CMF diagnoses in the Kyzylorda Region were more than 77%.


Assuntos
Anormalidades Múltiplas , Anormalidades Cardiovasculares , Anormalidades Múltiplas/diagnóstico , Autopsia , Anormalidades Cardiovasculares/diagnóstico , Feto , Humanos , Lactente , Cazaquistão
11.
Acta Vet Scand ; 61(1): 37, 2019 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-31349870

RESUMO

BACKGROUND: Pulmonary hypoplasia (PH) and congenital lobar emphysema (CLE) are very rare congenital pulmonary anomalies in veterinary medicine. PH refers to the incomplete pulmonary development due to embryologic imbalance of bronchial development between the lung buds, while CLE is defined as alveolar hyperinflation due to bronchial collapse during expiration caused by bronchial cartilage dysplasia, external bronchial compression, and idiopathic etiology. CLE may develop into pulmonary blebs or bullae that may rupture and induce a spontaneous pneumothorax. There are no reports on concurrent PH and CLE in animals. CASE PRESENTATION: A 7-month-old castrated male Italian Greyhound weighing 5.5 kg presented with vomiting and acute onset of severe dyspnea without any previous history of disease. After emergency treatment including oxygen supplementation and thoracocentesis, plain radiology and computed tomography scanning were performed and lobar emphysema with multiple bullae in the left cranial lung lobe associated with tension pneumothorax was identified. Since the pneumothorax was not resolved despite continuous suction of intrathoracic air for 3 days, a complete lobectomy of the left cranial lung lobe was performed. The excised lobe was not grossly divided into cranial and caudal parts, but a tissue mass less than 1 cm in size was present at the hilum and cranial to the excised lobe. Postoperatively, the dog recovered rapidly without air retention in the thoracic cavity. Histopathologically, the mass was identified as a hypoplastic lung tissue with collapsed alveoli, bronchial dysplasia, and pulmonary arterial hypertrophy. Additionally, the excised lung lobe presented CLE with marked ectasia of alveoli, various blebs and bullae, and general bronchial cartilage dysplasia. According to gross and histopathologic findings, the dog was diagnosed with concurrent PH and CLE in the left cranial lung lobe. During 16 months of follow-up, the dog was well and without any respiratory problems. CONCLUSIONS: This case report confirmed the clinical and histologic features of two different types of rare congenital pulmonary anomalies, PH and CLE, which occurred concurrently in a single lung lobe of a young dog. The condition was successfully managed with lobectomy.


Assuntos
Anormalidades Múltiplas/veterinária , Doenças do Cão/congênito , Pneumopatias/veterinária , Pulmão/anormalidades , Pneumotórax/veterinária , Enfisema Pulmonar/congênito , Animais , Cães , Pulmão/química , Pulmão/patologia , Pulmão/cirurgia , Pneumopatias/congênito , Masculino , Pneumotórax/etiologia , Pneumotórax/patologia , Pneumotórax/cirurgia , Enfisema Pulmonar/complicações , Enfisema Pulmonar/veterinária , Resultado do Tratamento
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 686-689, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302911

RESUMO

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION: The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.


Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Proteínas de Membrana/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Humanos , Doenças Renais Císticas/diagnóstico , Mutação , Linhagem , Sequenciamento Completo do Exoma
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 708-711, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302917

RESUMO

OBJECTIVE: To correlate genotype with clinical phenotype of a child featuring multiple congenital malformations. METHODS: Clinical examination of the patient was carried out. Chromosome microarray analysis (CMA) was employed to detect genomic copy number variations (CNVs), and quantitative PCR (qPCR) was used for verifying the result. RESULTS: The child had congenital heart disease (ventricular septal defect, atrial septal defect, pulmonary arterial hypertension, and tricuspid regurgitation), psychomotor retardation, agenesis of corpus callosum, hypospadias and scoliosis. CMA has detected a 1.8 Mb deletion at 7p22.3, a 1.8 Mb duplication at 7p22.3p22.2 and a 23.5 Mb duplication at 7q33q36.3 in the fetus, all of which were de novo in origin. CONCLUSION: CMA can precisely detect microdeletion/duplications and facilitate the genotype-phenotype correlation analysis.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 7/genética , Variações do Número de Cópias de DNA , Cardiopatias Congênitas/genética , Criança , Testes Genéticos , Humanos , Masculino , Fenótipo , Deleção de Sequência
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 712-715, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302918

RESUMO

OBJECTIVE: To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome. METHODS: Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing. RESULTS: The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child. CONCLUSION: The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.


Assuntos
Anormalidades Múltiplas/genética , Deficiência Intelectual/genética , Proteínas de Ligação à Região de Interação com a Matriz/genética , Fatores de Transcrição/genética , Criança , Deleção Cromossômica , Cromossomos Humanos Par 2 , Humanos , Mutação
15.
Nat Commun ; 10(1): 2966, 2019 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-31273213

RESUMO

Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso/genética , Corpo Caloso/crescimento & desenvolvimento , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteína SMARCB1/genética , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Alelos , Animais , Criança , Pré-Escolar , Corpo Caloso/citologia , Corpo Caloso/diagnóstico por imagem , Modelos Animais de Doenças , Embrião de Mamíferos , Face/diagnóstico por imagem , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Mutação com Perda de Função , Imagem por Ressonância Magnética , Masculino , Camundongos , Camundongos Transgênicos , Micrognatismo/diagnóstico por imagem , Pescoço/diagnóstico por imagem , Neuroglia/patologia , Cultura Primária de Células
16.
J Craniofac Surg ; 30(5): e465-e467, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31299817

RESUMO

Van der Woude syndrome (VWS) is a rare autosomal dominant disease, first reported in the literature in 1845 by Demarquay and subsequently thoroughly described in 1954 by Van der Woude. Van der Woude Syndrome is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases. Van der Woude syndrome clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Single lip sinuses without any cleft syndrome are rare; lower lip fistulas in VWS are generally asymptomatic, and surgical management is usually accomplished because of aesthetic concerns. However, in some cases, patients may complain of watery drainage or hypotonia of the lower lip. Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS.


Assuntos
Anormalidades Múltiplas/genética , Fenda Labial/genética , Fissura Palatina/genética , Cistos/genética , Fatores Reguladores de Interferon/genética , Lábio/anormalidades , Mutação , Pré-Escolar , Humanos , Masculino
17.
J Craniofac Surg ; 30(5): 1484-1487, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31299749

RESUMO

OBJECTIVE: The purpose of this study was to investigate the surgical, speech, and audiologic outcomes in patients with Van der Woude syndrome (VWS) and compare them to patients with nonsyndromic cleft palate with or without cleft lip (NS-CP ±â€ŠL) treated at the same institution. DESIGN: Retrospective chart review. SETTING: A single children's hospital at a major academic institution. PATIENTS: The records of 18 patients with VWS who had been treated at a single institution from 1989 to 2017 have been retrospectively examined. Thirty-eight patients with NS-CP ±â€ŠL who were also treated at the same institution during that same time frame were selected to closely match sex and date of birth. MAIN OUTCOME MEASURES: Demographic, clinical, surgical, and speech pathology data were gathered from medical charts. RESULT: By age 4, 88% of subjects with VWS and 76% of subjects with NS-CP ±â€ŠL (P = 0.732) had been, or were actively involved in, speech therapy. By age 10, 100% of remaining subjects with VWS and 58% of remaining subjects with NS-CP ±â€ŠL remained involved in speech therapy (P = 0.027).About 33% of patients with VWS and 16% of patients with NS-CP ±â€ŠL had a secondary procedure for velopharyngeal dysfunction (VPD) (P = 0.171). CONCLUSION: The VWS group had more than twice the rate of secondary procedures for VPD repair, and a higher rate of continuing involvement for speech therapy at age 10. No differences were found in the rate of participation in speech therapy at or by age 4.


Assuntos
Anormalidades Múltiplas/cirurgia , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Cistos/cirurgia , Lábio/anormalidades , Fala , Adolescente , Adulto , Criança , Feminino , Humanos , Lábio/cirurgia , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
18.
Medicine (Baltimore) ; 98(26): e16276, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261599

RESUMO

RATIONALE: Total anomalous pulmonary venous return (TAPVR) is a rare condition, accounting for 1% of all congenital heart diseases, and an atypical cardiovascular abnormality in Williams syndrome (WS). Here, we report a rare case of WS combined with infracardiac TAPVR. PATIENT CONCERNS: A female newborn presented shortness of breath and purpura after crying at the age of 10 days. DIAGNOSIS: Based on clinical symptoms and laboratory and echocardiographic findings, the patient was diagnosed with infracardiac TAPVR. INTERVENTIONS: We performed infracardiac total anomalous pulmonary venous connection repair surgery. OUTCOMES: The operation was successful and the patient was discharged from the hospital uneventfully after 2 months of treatment. However, we diagnosed the patient with WS in addition to infracardiac TAPVR 6 months postoperatively. LESSONS: This case demonstrates that patients with WS can have associated infracardiac TAPVR. The postoperative growth patterns and changes in the diameters of the aorta and pulmonary arteries were related closely to our early diagnosis of TAPVR associated with WS.


Assuntos
Anormalidades Múltiplas , Síndrome de Cimitarra/complicações , Síndrome de Williams/complicações , Feminino , Humanos , Recém-Nascido , Síndrome de Cimitarra/diagnóstico por imagem
19.
Medicine (Baltimore) ; 98(26): e16283, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261601

RESUMO

RATIONAL: Dental abnormalities can occur at any stage of tooth development. Of these abnormalities, true generalized microdontia is a rare condition in which all teeth are smaller than normal, while hypodontia is defined as the absence of 1 to 5 teeth. As far as we are aware, no article has reported a case of the non-syndromic occurrence of true generalized microdontia with hypodontia. PATIENT CONCERNS: A 9-year-old girl who had no systemic diseases presented with congenital absence of maxillary lateral incisors bilaterally and small teeth involving the whole dentition. DIAGNOSES: Based on intraoral examinations and panoramic radiograph, the patient was diagnosed with the simultaneous occurrence of true generalized microdontia, hypodontia, and a variation of maxillary 1st molar with a single root and single canal. Also, the patient had premature loss of mandibular molars and canines, periapical periodontitis in the mandible left 1st primary molar and deep caries in mandible left secondary primary molar. INTERVENTIONS: A removable appliance to hold space for early loss of mandibular molars and canines was made at the present stage. The mandible left 1st primary molar had periapical periodontitis and the affected tooth was extracted. Furthermore, the distal surface of the mandible left 2nd primary molar was filled with complex resin materials. A multi-disciplinary therapy plan was carefully designed including orthodontics, dental implants and esthetic restoration in the future. OUTCOMES: The patient complied well with instructions for wearing the removable space maintainer, which helps prevent mesial migration of the permanent 1st molars, at the current stage. The therapeutic efficiency on periapical periodontitis and caries lesions was also good. LESSONS: The non-syndromic presence of true generalized microdontia is extremely rare. A personalized treatment plan with multi-disciplinary considerations should be given for these patients. The pathogenesis remains unclear but may be related to genetic as well as environmental factors. More studies are urgently needed to explore the pathogenesis and treatment options for the future.


Assuntos
Anormalidades Múltiplas , Amelogênese Imperfeita/complicações , Anodontia/complicações , Criança , Feminino , Humanos
20.
J Cardiothorac Surg ; 14(1): 99, 2019 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-31159878

RESUMO

BACKGROUND: There is great discussion about non-confluent pulmonary artery (PA) reconstruction, and several materials have been used. Autologous pericardium is considered feasible for infectious resistance, autoimmune response, extensibility, and growth potential. CASE PRESENTATION: The patient was born at 39 weeks (body mass = 2550 g). He was diagnosed with tetralogy of Fallot, pulmonary atresia, non-confluent PA, and bilateral patent ductus arteriosus. Right and left Blalock-Taussig shunts with patent ductus arteriosus ligations were placed on day 27 and 3 months, respectively. At 19 months (8.8 kg), definitive repair was performed with tricuspid valved conduit concurrent with PA reconstruction using an autologous pericardium roll conduit. The autologous pericardium was treated with glutaraldehyde (autologous pericardium fixed with 0.4% glutaraldehyde for 7 min and rolled as conduit - 12 mm in diameter and 30 mm in length). Following an incision on the visceral side of the PAs before the 1st branch, the autologous pericardial roll conduit was anastomosed. Follow-up angiographies on postoperative months 9 and 57 demonstrated that the PA, including the autologous pericardium roll conduit, had spontaneously enlarged. CONCLUSION: Particularly for non-confluent PA, the patients require increased pulmonary beds at an early age because of hypoplastic PA. While size mismatch between the graft and native PA develops as the child grows, size-adjustable extensibility of the PA graft should be noted.


Assuntos
Pericárdio/transplante , Artéria Pulmonar/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Procedimentos Cirúrgicos Vasculares/métodos , Anormalidades Múltiplas/cirurgia , Pré-Escolar , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/cirurgia , Humanos , Lactente , Masculino , Artéria Pulmonar/anormalidades , Atresia Pulmonar/complicações , Atresia Pulmonar/cirurgia , Tetralogia de Fallot/complicações , Tetralogia de Fallot/cirurgia , Transplante Autólogo
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