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1.
BMJ Case Rep ; 14(11)2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34725059

RESUMO

Talonavicular (TN) coalition is a rare pathological union of the talus and navicular bones. We report the case of a 7-year-old girl with a symptomatic TN coalition, who underwent operative management with a lateral column lengthening procedure using autologous iliac crest bone grafting. There are no complications to report and the graft was incorporated at an early stage. At 3 year follow-up the patient has remained pain-free since the operation and maintained alignment. To our knowledge, this is the first reported case of TN coalition treated with reconstructive surgery in a paediatric patient.


Assuntos
Deformidades Congênitas do Pé , Tálus , Transplante Ósseo , Criança , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/cirurgia , Humanos , Ílio/diagnóstico por imagem , Ílio/cirurgia , Tálus/anormalidades , Tálus/diagnóstico por imagem , Tálus/cirurgia
2.
BMJ Case Rep ; 14(11)2021 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-34728503

RESUMO

A primiparous woman in her late 30s at 28+1 weeks' gestation presented with a 3-day history of abdominal pain, loss of appetite, nausea and vomiting and was diagnosed with starvation ketoacidosis. A routine admission swab returned positive for COVID-19. She had been diagnosed with acrorenal syndrome from birth. Three days post admission, she deteriorated rapidly into respiratory failure requiring intubation and ventilation. She was treated with dexamethasone, prophylactic enoxaparin, a course of piperacillin/tazobactam followed by meropenem and fluconazole and 8 cycles of proning. An emergency caesarean section was performed on day 12 of hospital admission at 29+5 weeks' gestation to improve maternal oxygenation and ventilation. The baby had deformities consistent with acrorenal syndrome but no evidence of COVID-19. She spent 23 days in the intensive care unit. Our case describes an unusual presentation of COVID-19, the challenges in managing critically ill pregnant patients along with a rare background history of acrorenal syndrome.


Assuntos
COVID-19 , Cetose , Adulto , COVID-19/complicações , Cesárea , Feminino , Dedos/anormalidades , Deformidades Congênitas da Mão , Humanos , Rim/anormalidades , Gravidez
3.
J Cardiothorac Surg ; 16(1): 337, 2021 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-34802434

RESUMO

BACKGROUND: Total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome is extremely rare. CASE PRESENTATION: We present a case of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome in a patient who was diagnosed based on transthoracic echocardiography and computed tomography. We observed complete absence of the lung, the bronchial tree, and vascular structures on the right side, with abnormal drainage of the left pulmonary veins into the innominate vein. The patient showed clear clinical evidence of pulmonary venous obstruction and underwent surgery 3 days after birth. The pulmonary venous chamber containing the vertical vein was anastomosed to the left atrium using 7-0 PDS running sutures via a median sternotomy. Echocardiography and computed tomography performed 1 year postoperatively revealed no pulmonary venous obstruction. CONCLUSION: We report a rare case of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome, which was successfully repaired 3 days after birth. A median sternotomy is a safe and effective approach for surgical repair of congenital heart disease with unilateral lung agenesis. Repair of the supra cardiac total anomalous pulmonary connection using the vertical vein is feasible in patients with a small pulmonary venous chamber.


Assuntos
Síndrome de Goldenhar , Pneumopatias , Veias Pulmonares , Anormalidades Múltiplas , Átrios do Coração , Humanos , Recém-Nascido , Pulmão/anormalidades , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/cirurgia
4.
Int J Mol Sci ; 22(21)2021 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-34769246

RESUMO

The inflammatory response plays a central role in the complications of congenital pulmonary airway malformations (CPAM) and severe coronavirus disease 2019 (COVID-19). The aim of this study was to evaluate the transcriptional changes induced by SARS-CoV-2 exposure in pediatric MSCs derived from pediatric lung (MSCs-lung) and CPAM tissues (MSCs-CPAM) in order to elucidate potential pathways involved in SARS-CoV-2 infection in a condition of exacerbated inflammatory response. MSCs-lung and MSCs-CPAM do not express angiotensin-converting enzyme 2 (ACE2) and transmembrane serine protease 2 (TRMPSS2). SARS-CoV-2 appears to be unable to replicate in MSCs-CPAM and MSCs-lung. MSCs-lung and MSCs-CPAM maintained the expression of stemness markers MSCs-lung show an inflammatory response (IL6, IL1B, CXCL8, and CXCL10), and the activation of Notch3 non-canonical pathway; this route appears silent in MSCs-CPAM, and cytokine genes expression is reduced. Decreased value of p21 in MSCs-lung suggested no cell cycle block, and cells did not undergo apoptosis. MSCs-lung appears to increase genes associated with immunomodulatory function but could contribute to inflammation, while MSCs-CPAM keeps stable or reduce the immunomodulatory receptors expression, but they also reduce their cytokines expression. These data indicated that, independently from their perilesional or cystic origin, the MSCs populations already present in a patient affected with CPAM are not permissive for SARS-CoV-2 entry, and they will not spread the disease in case of infection. Moreover, these MSCs will not undergo apoptosis when they come in contact with SARS-CoV-2; on the contrary, they maintain their staminality profile.


Assuntos
Células-Tronco Mesenquimais/metabolismo , Anormalidades do Sistema Respiratório , SARS-CoV-2/fisiologia , Transcriptoma , COVID-19/genética , COVID-19/metabolismo , COVID-19/patologia , Estudos de Casos e Controles , Células Cultivadas , Perfilação da Expressão Gênica , Interações Hospedeiro-Patógeno/genética , Humanos , Lactente , Pulmão/anormalidades , Pulmão/metabolismo , Pulmão/patologia , Masculino , Células-Tronco Mesenquimais/patologia , Células-Tronco Mesenquimais/virologia , RNA-Seq , Anormalidades do Sistema Respiratório/genética , Anormalidades do Sistema Respiratório/patologia , Anormalidades do Sistema Respiratório/virologia
5.
Ortop Traumatol Rehabil ; 23(5): 375-380, 2021 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-34734561

RESUMO

Klippel-Trenaunay syndrome is a rare congenital malformation which may be associated with macrodactyly. The main problem is the need for custom-made shoes. We describe the case of a female newborn affected by Klippel-Trenaunay syndrome, with a larger and longer right foot; the difference increased progressively and, at 5 years of age, the right foot was 50% larger and 38% longer than the left one. Due to the progression of the deformity, reduction surgery was advised to reduce the foot's width. Resection of the second ray and 2nd cuneiform was performed. The result was excellent and there were no complications during a 10-year follow-up period with a decrease of width and length difference to 10% and 4%, respectively, in comparison to the contralateral foot. There were no gait anomalies. Abnormal foot width and length represented the main problems and guided the surgical strategy. Second ray resection was effective, without complications and with a good long-term functional outcome. Possibility of wearing fashionable conventional shoes without insoles was achieved to the patient's satisfaction.


Assuntos
Síndrome de Klippel-Trenaunay-Weber , Deformidades Congênitas dos Membros , Feminino , Dedos/anormalidades , Humanos , Recém-Nascido , Síndrome de Klippel-Trenaunay-Weber/complicações , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Deformidades Congênitas dos Membros/cirurgia
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(10): 985-988, 2021 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-34625938

RESUMO

OBJECTIVE: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS: The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION: The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.


Assuntos
Microcefalia , Malformações do Sistema Nervoso , Cerebelo/anormalidades , Criança , Deficiências do Desenvolvimento , Família , Humanos , Retardo Mental Ligado ao Cromossomo X , Microcefalia/genética
8.
Medicine (Baltimore) ; 100(37): e27198, 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34664848

RESUMO

ABSTRACT: To describe the retroperitoneoscopic debridement technique and evaluate the clinical outcome of internal fixation for the treatment of lumbar tuberculosis.Twenty-eight patients were performed conventional laparoendoscopic technique (n = 17) or laparoendoscopic single-site technique (n = 11). Antituberculosis chemotherapy and thoracolumbosacral orthosis were given to all patients. The clinical outcomes were evaluated with preoperative and postoperative Visual Analog Scale, and radiographs with respect to sagittal angle and fusion status.Average time of the 28 procedures was 220.6 ±â€Š50.9 min (180-365 min). The average intraoperative blood loss was 108.6 ±â€Š95.3 mL (50-400 mL). All patients showed significant improvement of their Visual Analog Scale back pain score at follow-up and were classified as having a radiographic fusion in this study. The mean sagittal angle was 11.2 ±â€Š3.6° before operation, significantly improved to 3.7 ±â€Š2.4° after operation. There were no recurrent infections during the follow-up period. Complications included loosening of anterior fixation and temporary deficit of the sympathetic nerve.Retroperitoneal laparoscopic approach with CO2 insufflation technique is a challenging but safe and effective procedure for lumbar spine tuberculosis. Retroperitoneal laparoendoscopic single-site can be used for anterior lumbar spine surgery, offer exposure for L1 through L5.


Assuntos
Desbridamento/normas , Fixadores Internos/normas , Tuberculose Osteoarticular/cirurgia , Adulto , Idoso , Desbridamento/métodos , Desbridamento/estatística & dados numéricos , Feminino , Humanos , Fixadores Internos/estatística & dados numéricos , Região Lombossacral/anormalidades , Região Lombossacral/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Espaço Retroperitoneal/anormalidades , Espaço Retroperitoneal/diagnóstico por imagem , Estudos Retrospectivos , Resultado do Tratamento
9.
Cir Pediatr ; 34(4): 211-214, 2021 Oct 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34606702

RESUMO

Pyloric atresia is a rare malformation, with an incidence of 1:100,000 live newborns. Male to female ratio is 1/1. Typically, it is an isolated malformation, with a good prognosis, but 20-40% of cases present epidermolysis bullosa, and to a lesser extent, multiple intestinal atresias. We present the case of a pre-term newborn prenatally diagnosed with polyhydramnios, duodenal atresia with "double bubble" sign, and suspected Down's syndrome, who eventually had pyloric atresia.


Assuntos
Síndrome de Down , Obstrução da Saída Gástrica , Atresia Intestinal , Síndrome de Down/complicações , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Piloro/anormalidades , Piloro/diagnóstico por imagem
10.
Cir Pediatr ; 34(4): 223-227, 2021 Oct 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34606705

RESUMO

INTRODUCTION: Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive disorder of the connective tissue. It is characterized by tortuosity and elongation of medium and large arteries, with multiple disorders associated with the widespread involvement of the connective tissue. CASE REPORT: Newborn diagnosed with ATS, with multiple vascular malformations, hiatal hernia, and bilateral inguinal hernia. He underwent surgery at three months of age. The hiatal hernia was closed, and bilateral inguinal hernia repair was performed. The inguinal hernias required up to 4 surgeries as a result of recurrences.During follow-up, the patient had retrocardiac diaphragmatic hernia. It was operated on, with subsequent incisional hernia. 8 years later, he was admitted as a result of septic shock secondary to intestinal occlusion. Emergency surgery was scheduled, demonstrating gastric herniation in the right pleural cavity, with perforation of the fundus. The patient died at the ICU 24 hours later. DISCUSSION: The pediatric surgeon should be familiar with ATS, since it may cause multiple surgical pathologies, it is difficult to manage, and it is associated with a high risk of recurrence and complications.


Assuntos
Hérnia Inguinal , Dermatopatias Genéticas , Malformações Vasculares , Artérias/anormalidades , Criança , Proteínas Facilitadoras de Transporte de Glucose , Humanos , Recém-Nascido , Instabilidade Articular , Masculino
16.
BMJ Case Rep ; 14(10)2021 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-34706915

RESUMO

Pulmonary agenesis is defined as the complete absence of one or both lungs, including the bronchi, bronchioles, vasculature and lung parenchyma. Most of these malformations are detected in early childhood. A residual number remains asymptomatic and undiagnosed until adulthood. The clinical presentation is wide, ranging from asymptomatic to respiratory complaints like dyspnoea, respiratory distress and a history of recurrent lung infections. This case presents a 54-year-old woman with complaints of coughing, dyspnoea for medium exertion and wheezing for a couple of months. Based on the results of complementary diagnosis methods, right pulmonary agenesis was diagnosed without other malformations. Simultaneously, an asthma diagnosis was also performed. The treatment of pulmonary agenesis is symptomatic. Simultaneous cardiovascular malformations could require surgical interventions. This case demonstrates that pulmonary agenesis may remain undiagnosed, be identified incidentally, and have a good and long prognosis.


Assuntos
Anormalidades Múltiplas , Pneumopatias , Diagnóstico Tardio , Feminino , Humanos , Pulmão/anormalidades , Pulmão/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Pessoa de Meia-Idade
17.
Pan Afr Med J ; 39: 233, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34659606

RESUMO

Sternal agenesis as well as ectopia cordis are extremely rare congenital malformations. We here report a single case treated in the Department of Paediatric Surgery in Benin. The study involved a 3-year-old girl with congenital sternal agenesis associated with ectopia cordis; firstly, she underwent controlled healing. Then thoracoplasty was performed with favourable outcome. Long-term results are good. Now, she is 13 years old, is attending school and has a satisfactory clinical condition. This is one of the few cases reported in the literature. Optimal therapeutic management has been keeping the patient alive in West Africa.


Assuntos
Ectopia Cordis/cirurgia , Esterno/cirurgia , Benin , Pré-Escolar , Feminino , Seguimentos , Humanos , Esterno/anormalidades , Resultado do Tratamento
18.
Environ Toxicol Pharmacol ; 87: 103738, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34492396

RESUMO

The effects of two drugs containing the synthetic thyroid hormone levothyroxine (LEV) and an anti-thyroid drug containing propylthiouracil (PTU) on the three early life stages of Xenopus laevis were evaluated with the Frog Embryo Teratogenesis Assay-Xenopus, Tadpole Toxicity Test, and Amphibian Metamorphosis Assay using biochemical and morphological markers. Tested drugs caused more effective growth retardation in stage 8 embryos than stage 46 tadpoles. Significant inhibition of biomarker enzymes has been identified in stage 46 tadpoles for both drugs. AMA test results showed that LEV-I caused progression in the developmental stage and an increase in thyroxine level in 7 days exposure and growth retardation in 21 days exposure in stage 51 tadpoles. On the other hand, increases in lactate dehydrogenase activity for both drugs in the AMA test may be due to impacted energy metabolism during sub-chronic exposure. These results also show that the sensitivity and responses of Xenopus laevis at different early developmental stages may be different when exposed to drugs.


Assuntos
Antitireóideos/toxicidade , Embrião não Mamífero/efeitos dos fármacos , Larva/efeitos dos fármacos , Propiltiouracila/toxicidade , Teratógenos/toxicidade , Tiroxina/toxicidade , Xenopus laevis , Acetilcolinesterase/metabolismo , Animais , Carboxilesterase/metabolismo , Embrião não Mamífero/anormalidades , Embrião não Mamífero/enzimologia , Desenvolvimento Embrionário/efeitos dos fármacos , Feminino , Glutationa Redutase/metabolismo , Glutationa Transferase/metabolismo , Larva/enzimologia , Larva/crescimento & desenvolvimento , Masculino , Metamorfose Biológica/efeitos dos fármacos , Xenopus laevis/anormalidades , Xenopus laevis/crescimento & desenvolvimento , Xenopus laevis/metabolismo
19.
Pan Afr Med J ; 38: 11, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34567338

RESUMO

Introduction: the circle of Willis is an anatomical structure of clinical importance particularly in the evaluation of neurovascular diseases. Individuals show considerable variations in the anatomical configuration of the circle of Willis. A cross-sectional study was conducted to determine the distribution of morphological variations of the circle of Willis in Malawians and compare with other ethnic groups. Methods: brains were collected from twenty-four recently deceased black Malawians during autopsy at Queen Elizabeth Central Hospital, a referral teaching hospital in Blantyre, Malawi and fixed in 10% buffered formalin. Digital images of the interpeduncular region (exposing the circle of Willis) were taken with an 18.4 megapixels camera from the base of the brain. Whole-circle and segmental parameters of the circle of Willis were assessed using the Osiris computer programme and classified based on a 22-type classification scheme. Results: the following morphological variations were observed: hypoplasia, aplasia, asymmetry and accessory vessels. Typical circle of Willis was seen in 26% of the cases. Only six of the original twenty-two types were observed. Consistent with most previous studies, types 1, 3, 4, 6, 8 and 9 were common while types 10-22 were rare. Three variants not previously described in the original scheme (unilateral PcoA aplasia, AcoA duplication, and PcoA aplasia with contralateral PcoA hypoplasia) were observed in this study. Conclusion: anatomical variations of the circle of Willis in Malawians seem to be distributed in similar frequencies and patterns as in other more-diverse populations. Circle of Willis variants with potential predilection for atherogenesis and aneurysm formation exist in the Malawian population. These should be considered in clinical practice.


Assuntos
Grupo com Ancestrais do Continente Africano , Círculo Arterial do Cérebro/anatomia & histologia , Adolescente , Adulto , Idoso , Cadáver , Criança , Pré-Escolar , Círculo Arterial do Cérebro/anormalidades , Feminino , Humanos , Malaui , Masculino , Pessoa de Meia-Idade , Adulto Jovem
20.
Eur J Endocrinol ; 185(5): 691-705, 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34516402

RESUMO

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.


Assuntos
Estatura/genética , Osso e Ossos/anormalidades , Nanismo/genética , Osteocondrodisplasias/genética , Adolescente , Antropometria , Criança , Pré-Escolar , Feminino , Variação Genética , Lâmina de Crescimento/anormalidades , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Linhagem , Prevalência
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