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1.
Pediatr Rev ; 40(8): 435-438, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31371639
2.
Int J Exp Pathol ; 100(1): 4-11, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30912609

RESUMO

This review, based on the BSMB Fell-Muir Lecture I presented in July 2018 at the Matrix Biology Europe Conference in Manchester, gives a personal perspective of my own laboratory's contributions to research into type X collagen, metaphyseal chondrodysplasia type Schmid and potential treatments for this disorder that are currently entering clinical trial. I have tried to set the advances made in the context of the scientific technologies available at the time and how these have changed over the more than three decades of this research.


Assuntos
Pesquisa Biomédica/métodos , Ensaios Clínicos como Assunto/métodos , Clonagem Molecular/métodos , Colágeno Tipo X/genética , Terapia Genética/métodos , Mutação , Osteocondrodisplasias/terapia , Animais , Pesquisa Biomédica/história , Ensaios Clínicos como Assunto/história , Colágeno Tipo X/metabolismo , Congressos como Assunto , Difusão de Inovações , Predisposição Genética para Doença , Terapia Genética/história , História do Século XX , História do Século XXI , Humanos , Osteocondrodisplasias/genética , Osteocondrodisplasias/história , Osteocondrodisplasias/metabolismo , Fenótipo
3.
Front Horm Res ; 51: 147-159, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641531

RESUMO

Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. The new term "inactivating PTH/PTHrP signaling disorder," iPPSD: (1) defines the common mechanism responsible for all diseases, (2) does not require a confirmed genetic defect, (3) avoids ambiguous terms like "pseudo," and (4) eliminates the clinical or molecular overlap between diseases.


Assuntos
Doenças Ósseas Metabólicas , Disostoses , Deficiência Intelectual , Ossificação Heterotópica , Osteocondrodisplasias , Proteína Relacionada ao Hormônio Paratireóideo/metabolismo , Hormônio Paratireóideo/metabolismo , Pseudo-Hipoparatireoidismo , Transdução de Sinais/fisiologia , Dermatopatias Genéticas , Doenças Ósseas Metabólicas/classificação , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/metabolismo , Doenças Ósseas Metabólicas/terapia , Disostoses/classificação , Disostoses/diagnóstico , Disostoses/metabolismo , Disostoses/terapia , Humanos , Deficiência Intelectual/classificação , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/metabolismo , Deficiência Intelectual/terapia , Ossificação Heterotópica/classificação , Ossificação Heterotópica/diagnóstico , Ossificação Heterotópica/metabolismo , Ossificação Heterotópica/terapia , Osteocondrodisplasias/classificação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/metabolismo , Osteocondrodisplasias/terapia , Pseudo-Hipoparatireoidismo/classificação , Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/metabolismo , Pseudo-Hipoparatireoidismo/terapia , Dermatopatias Genéticas/classificação , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/metabolismo , Dermatopatias Genéticas/terapia
4.
Med Arch ; 72(4): 289-291, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30514997

RESUMO

Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. Case report: A case of preterm neonate who presented immediately after delivery with hyperglycemia and heart murmur. Clinical and laboratory investigation showed diabetes mellitus type I and double outlet right ventricle. Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3. Conclusion: Diabetes in neonatal age raises doubts about the possibility of association with the syndrome and other diseases.


Assuntos
Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/terapia , Epífises/anormalidades , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/terapia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/terapia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro
5.
Rev. chil. cir ; 70(4): 373-381, ago. 2018. ilus
Artigo em Espanhol | LILACS | ID: biblio-959399

RESUMO

Resumen Las deformidades de la caja torácica se pueden dividir en dos tipos, las que son productos del desarrollo anormal del pecho en el crecimiento y las congénitas que son las secundarias a una malformación estructural del pecho evidente en el nacimiento. Las malformaciones del desarrollo son las más comunes, como por ejemplo pectus excavatum o pectun carinatum. Las menos comunes son las de tipo congénito: síndrome de Poland, displasia espondilotorácica, displasia espondilocostal, síndrome de Jeune y los defectos de la costilla o el esternón. Las deformidades del pecho de tipo congénita se caracterizan por afectar la relación entre la columna vertebral, la caja torácica y los pulmones. La mayoría de estos pacientes desarrollan un disturbio respiratorio progresivo de tipo restrictivo conocido como Síndrome de Insuficiencia Torácica. Este síndrome se define como la deficiencia de la caja torácica para mantener una respiración normal y sostener el crecimiento fisiológico del pulmón. En este artículo discutiremos varias condiciones que afectan el desarrollo y función de la caja torácica.


Chest wall deformities are divided as an abnormal development during the growth or those secondary to a congenital malformation. The developmental type is the most common: pectus excavatum or pectus carinatum. The less common are the congenital types of chest wall abnormalities: Poland's syndrome, Jeune's syndrome, espondylothoracic dysplasia, espondylocostal dysplasia and defects of the ribs or sternum. The congenital type usually affects the relationship between the spine, rib cage and the lungs. Therefore, many of these patients will develop a progressive respiratory disturbance of restrictive type known as Thoracic Insufficiency Syndrome. Thoracic insufficiency syndrome is defining as a deficiency of the rib cage to maintain a normal respiration and to sustain the physiological growth of the lungs. In this article will discuss several conditions that will affect the development and function of the chest wall.


Assuntos
Humanos , Osteocondrodisplasias/diagnóstico , Síndrome de Poland/diagnóstico , Tórax/anormalidades , Pectus Carinatum/diagnóstico , Tórax em Funil/diagnóstico , Osteocondrodisplasias/terapia , Síndrome de Poland/terapia , Pectus Carinatum/terapia , Tórax em Funil/terapia
6.
Clin Exp Dermatol ; 43(6): 713-717, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29744913

RESUMO

Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short-stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi-allelic RMRP gene mutation. At 13 years, the patient developed an Epstein-Barr virus (EBV)-driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV-associated low-grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV-associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV-associated cutaneous malignancy in CHH.


Assuntos
Cabelo/anormalidades , Doença de Hirschsprung/complicações , Síndromes de Imunodeficiência/complicações , Neoplasias Pulmonares/complicações , Pulmão/patologia , Granulomatose Linfomatoide/complicações , Osteocondrodisplasias/congênito , Neoplasias Cutâneas/complicações , Adolescente , Feminino , Herpesvirus Humano 4/isolamento & purificação , Doença de Hirschsprung/terapia , Humanos , Síndromes de Imunodeficiência/terapia , Pulmão/virologia , Neoplasias Pulmonares/patologia , Granulomatose Linfomatoide/patologia , Osteocondrodisplasias/complicações , Osteocondrodisplasias/terapia , Transplante de Células-Tronco
8.
BMJ Case Rep ; 20172017 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-29054894

RESUMO

Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians. Healthcare providers across specialties should have a high degree of suspicion for MPS IVA in all patients with suspected spondylo-epiphyseal dysplasia as early diagnosis and early treatment significantly improve the clinical outcome and activity of daily living.


Assuntos
Antibacterianos/uso terapêutico , Opacidade da Córnea/patologia , Mucopolissacaridose IV/diagnóstico , Osteocondrodisplasias/congênito , Lesão por Pressão/tratamento farmacológico , Diagnóstico Diferencial , Humanos , Masculino , Mucopolissacaridose IV/fisiopatologia , Mucopolissacaridose IV/reabilitação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/fisiopatologia , Osteocondrodisplasias/terapia , Lesão por Pressão/patologia , Radiografia , Cirurgia Plástica , Adulto Jovem
9.
BMJ Case Rep ; 20172017 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-28784888

RESUMO

Tracheobronchopathia osteochondroplastica is a rare airway disease of unknown aetiology. Due to overlapping symptomology and lack of awareness, the condition is often missed resulting in unnecessary medical or surgical treatment. A male patient presented with a long-standing history of hoarseness and had earlier received treatment for bronchial asthma and tuberculosis. On evaluation, he had typical submucosal calcified nodules distributed throughout the trachea sparing the posterior membranous part. Although the biopsy confirmed the diagnosis of tracheobronchopathia osteochondroplastica in our case, histopathological examination is not always needed to make this diagnosis. Our patient has been kept under conservative management and is having non-progression of disease at 1-year follow-up. After having reviewed the literature related to pathophysiology and management of tracheobronchopathia osteochondroplastica, we emphasise on the fact that the treating physicians' awareness about this condition is the key to its diagnosis and management.


Assuntos
Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/terapia , Doenças da Traqueia/diagnóstico , Doenças da Traqueia/terapia , Tratamento Conservador , Diagnóstico Diferencial , Rouquidão/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/complicações , Doenças da Traqueia/complicações
10.
Thorac Surg Clin ; 27(2): 181-193, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28363373

RESUMO

Primary osseous tumors of the chest wall are uncommon neoplasms. They occur in a wide variety of pathologic forms, most of which can be distinguished by unique radiologic appearance. Management of these tumors depends on the diagnosis and stage. Adequate surgical resection is critical in achieving the best outcomes for most of these tumors. Chemotherapy and radiation may have an adjuvant role. Surgeons considering resection of any chest wall tumor should have a sound knowledge of the principles of resection and reconstruction.


Assuntos
Neoplasias Ósseas/cirurgia , Procedimentos Cirúrgicos Reconstrutivos , Caixa Torácica/cirurgia , Neoplasias Torácicas/cirurgia , Procedimentos Cirúrgicos Torácicos , Parede Torácica/cirurgia , Cistos Ósseos Aneurismáticos/diagnóstico , Cistos Ósseos Aneurismáticos/cirurgia , Cistos Ósseos Aneurismáticos/terapia , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/terapia , Quimiorradioterapia Adjuvante , Condroma/diagnóstico , Condroma/cirurgia , Condroma/terapia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/cirurgia , Histiocitose de Células de Langerhans/terapia , Humanos , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/cirurgia , Osteocondrodisplasias/terapia , Prognóstico , Sarcoma/diagnóstico , Sarcoma/cirurgia , Sarcoma/terapia , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/terapia
11.
Curr Osteoporos Rep ; 15(2): 61-69, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28409412

RESUMO

PURPOSE OF THE REVIEW: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT FINDINGS: Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.


Assuntos
Nanismo/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Microcefalia/diagnóstico , Osteocondrodisplasias/diagnóstico , Gerenciamento Clínico , Nanismo/fisiopatologia , Nanismo/terapia , Retardo do Crescimento Fetal/fisiopatologia , Retardo do Crescimento Fetal/terapia , Humanos , Microcefalia/fisiopatologia , Microcefalia/terapia , Osteocondrodisplasias/fisiopatologia , Osteocondrodisplasias/terapia
12.
J Pediatr Orthop B ; 26(6): 526-531, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27398645

RESUMO

We reviewed the radiologic and clinical outcomes of hip joints affected by multiple epiphyseal dysplasia in 40 patients. The average patient age was 9.6 years. All patients were followed up for an average of 7.2 years. No patient underwent surgical treatment. The variances of the center-edge angle and femoral head coverage had the greatest tendency to increase with conservative treatment and follow-up (P=0.011 and 0.015, respectively). The acetabular angle and the acetabular depth index at the first visit and the latest follow-up were statistically significantly different (P=0.046 and 0.027, respectively). According to the Stulberg classification, the severity of hip deformity became less severe with age, but this was not statistically significant (P=0.090). Larger improvements in Harris hip scores were identified after conservative treatment (P=0.003). Favorable midterm outcomes were obtained for the treatment of hip deformity in multiple epiphyseal dysplasia patients by conservative treatment.


Assuntos
Tratamento Conservador , Deformidades Congênitas do Pé/terapia , Deformidades Congênitas da Mão/terapia , Articulação do Quadril/fisiopatologia , Osteocondrodisplasias/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Cabeça do Fêmur/anormalidades , Cabeça do Fêmur/diagnóstico por imagem , Cabeça do Fêmur/fisiopatologia , Marcha , Articulação do Quadril/anormalidades , Articulação do Quadril/diagnóstico por imagem , Humanos , Masculino , Medição da Dor , Radiografia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
14.
Pediatr Blood Cancer ; 64(2): 306-310, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27718324

RESUMO

Childhood-onset chronic and refractory cytopenias are rare and may be genetic in etiology. We report three pediatric cases of severe autoimmune thrombocytopenia or anemia associated with growth retardation and spastic diplegia with intracranial calcification. The identification of platyspondyly and metaphyseal lesions suggested a potential diagnosis of spondyloenchondrodysplasia (SPENCD), which was confirmed with the identification of biallelic ACP5 mutations. Two patients demonstrated elevated serum interferon alpha levels. Our report highlights ACP5-associated disease as a cause of childhood-onset autoimmune cytopenia, particularly combined with growth retardation and/or spasticity. Furthermore, a role for type I interferon in the pathogenesis of autoimmune cytopenias is supported.


Assuntos
Doenças Autoimunes/complicações , Doenças Autoimunes/genética , Mutação/genética , Osteocondrodisplasias/complicações , Osteocondrodisplasias/genética , Púrpura Trombocitopênica Idiopática/complicações , Púrpura Trombocitopênica Idiopática/genética , Fosfatase Ácida Resistente a Tartarato/genética , Idade de Início , Alelos , Doenças Autoimunes/terapia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Osteocondrodisplasias/terapia , Prognóstico , Púrpura Trombocitopênica Idiopática/terapia
15.
Medicine (Baltimore) ; 96(50): e9209, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29390344

RESUMO

RATIONALE: Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. PATIENT CONCERNS: A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40. DIAGNOSES: She received a diagnosis of VBD based on the phenotypic abnormalities of the skull and mandible, facial nerve involvement, radiological images of the skeleton, and her family history. INTERVENTIONS: She received symptomatic treatment and surgical decompression for spinal stenosis. OUTCOMES: Her clinical condition did not improve satisfactorily. LESSONS: We hope to promote clinician awareness of this very rare disease and its symptoms and signs. A comprehensive understanding of VBD might lead to the development of a curative therapy in the future.


Assuntos
Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/terapia , Descompressão Cirúrgica , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Fenótipo , Doenças Raras , Taiwan
16.
Yonsei Med J ; 57(5): 1290-3, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27401665

RESUMO

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.


Assuntos
Osteocondrodisplasias/diagnóstico por imagem , Linhagem , Adulto , Artralgia/complicações , Dor nas Costas/complicações , Feminino , Humanos , Masculino , Osteocondrodisplasias/complicações , Osteocondrodisplasias/patologia , Osteocondrodisplasias/terapia , República da Coreia , Adulto Jovem
17.
Endocrine ; 52(3): 414-26, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26892377

RESUMO

During the past 15 years there has been an expansion of our knowledge of the cellular and molecular mechanisms regulating bone remodeling that identified new signaling pathways fundamental for bone renewal as well as previously unknown interactions between bone cells. Central for these developments have been studies of rare bone disorders. These findings, in turn, have led to new treatment paradigms for osteoporosis some of which are at late stages of clinical development. In this article, we review three rare skeletal disorders with case descriptions, pycnodysostosis and the craniotubular hyperostoses sclerosteosis and van Buchem disease that led to the development of cathepsin K and sclerostin inhibitors, respectively, for the treatment of osteoporosis.


Assuntos
Doenças Ósseas/etiologia , Doenças Ósseas/terapia , Descoberta de Drogas , Osteoporose/terapia , Remodelação Óssea/fisiologia , Descoberta de Drogas/métodos , Humanos , Hiperostose/etiologia , Hiperostose/terapia , Osteocondrodisplasias/etiologia , Osteocondrodisplasias/terapia , Osteoporose/etiologia , Doenças Raras , Sindactilia/etiologia , Sindactilia/terapia
18.
Neuromodulation ; 19(8): 818-823, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26399458

RESUMO

OBJECTIVES: The aim of this study was to report on four patients with craniocervical dystonia (CCD) treated with deep brain stimulation (DBS). In addition, we investigated the treatment efficacy and surgical outcome predictors by the review and analysis of previously published studies. METHODS: Four patients with CCD underwent DBS of the globus pallidus internus (Gpi) or subthalamus nucleus (STN). PubMed and MEDLINE searches were performed to obtain detailed information on patients who underwent DBS for CCD. The primary efficacy endpoint was the change in the Burke-Fahn-Marsden Dystonia Rating Scale (movement and disability scores, BFMDRS-M/D) after surgery. RESULTS: Seventy-five patients were included in the pooled analysis, including 69 patients with Gpi-DBS and 6 patients with STN-DBS. The mean follow-up of time was 28.0 months after surgery. The mean BFMDRS-M score was 24.5 ± 11.2 preoperatively and 8.1 ± 5.7 postoperatively at the final follow-up evaluation, with a mean improvement of 66.9% (p < 0.001). The mean BFMDRS-D score was 8.1 ± 4.6 preoperatively and 3.6 ± 2.5 postoperatively, with a mean percentage improvement of 56.0% (p < 0.01). Positive correlations were found between each of the preoperative movement and disability scores and percentage of postoperative improvement (r = 0.247, p = 0.034; r = 0.331, p = 0.034, respectively). CONCLUSION: GPi/STN-DBS is an effective treatment for patients with medically refractory CCD, including those with severe preoperative symptoms. The age at CCD onset and the disease duration do not predict improvement in movement scores.


Assuntos
Anormalidades Craniofaciais/terapia , Estimulação Encefálica Profunda/métodos , Globo Pálido/fisiologia , Osteocondrodisplasias/terapia , Núcleo Subtalâmico/fisiologia , Adulto , Idoso , Bases de Dados Bibliográficas/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
19.
Saudi J Kidney Dis Transpl ; 26(5): 987-91, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26354575

RESUMO

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt.


Assuntos
Arteriosclerose , Síndromes de Imunodeficiência , Síndrome Nefrótica , Osteocondrodisplasias , Embolia Pulmonar , Adolescente , Arteriosclerose/diagnóstico , Arteriosclerose/genética , Arteriosclerose/terapia , Progressão da Doença , Egito , Evolução Fatal , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/genética , Síndrome Nefrótica/terapia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Osteocondrodisplasias/terapia , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/genética , Embolia Pulmonar/terapia , Fatores de Tempo
20.
Int J Clin Exp Pathol ; 8(7): 8585-90, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26339438

RESUMO

INTRODUCTION: Tracheobronchopathia osteochondroplastica (TO) is a rare disorder involving the lumen of the trachea-bronchial tree and characterized by multiple sub-mucosal osseous and cartilaginous nodules in the trachea and bronchus, sparing the posterior wall. We here report two cases of patients with tracheobronchopathia osteochondroplastica and review the relevant literature briefly. CASE PRESENTATION: Case 1 was a 64-year-old woman with a history of Chronic Obstructive Pulmonary Disease (COPD) who presented with frequent non-productive cough for 2 years. Chest computed tomography (CT) showed signs consistent with COPD and evident irregular narrowing of the tracheal and both main bronchial lumen caused by calcific foci. Fibre optic bronchoscope (FOB) was performed and showed dozens of sub-mucosal nodules protruding into the lumen of lower half of the trachea and both main bronchi. Histopathological exam demonstrated sub-mucosal ossification and cartilage in the sample. Her follow-up has been uneventful for 3 years. Case 2 was a 37-year-old man presented with hoarseness, exertional dyspnea, and intermittent dry cough for about 3 years. Chest CT scans showed irregular nodules around the entire circumference of the trachea extending from sub-glottic region to lower trachea. FOB showed glottic stenosis and diffused sub-mucosal calcified nodules protruding from the antero-lateral portion of the trachea in the subglottic region. Over the following 12 months, his disease is stable. CONCLUSIONS: TO is a rare, benign disease with slow progression, clinicians should be aware of TO and should consider it in patients with chronic cough, recurrent respiratory infection and evolving exertional dyspnea.


Assuntos
Brônquios , Osteocondrodisplasias/diagnóstico , Traqueia , Doenças da Traqueia/diagnóstico , Adulto , Biópsia , Brônquios/patologia , Broncoscopia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Osteocondrodisplasias/terapia , Prognóstico , Fatores de Tempo , Tomografia Computadorizada por Raios X , Traqueia/diagnóstico por imagem , Traqueia/patologia , Doenças da Traqueia/diagnóstico por imagem , Doenças da Traqueia/patologia , Doenças da Traqueia/terapia
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