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[PDF] Top 20 Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

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Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

... amylopectinase phosphofructokinase, adenylate deaminase. HE, MGT, and ATPase stains are essential for the diagnosis and di ff erential diagnosis of muscle diseases; PAS, oil red O, NADH-TR, SDH, COX, myophosphorylase, ... See full document

5

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

... Several clinical clues, including age at onset, distin- guish SLONM from congenital nemaline ...at onset in the SLONM cohort was 52 years, whereas patients with hereditary nemaline ... See full document

12

Clinical Heterogeneity in Korean Patients with Nemaline Myopathy

Clinical Heterogeneity in Korean Patients with Nemaline Myopathy

... Purpose: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline ... See full document

6

Demographic, clinical, and pathological features of early onset pancreatic cancer patients

Demographic, clinical, and pathological features of early onset pancreatic cancer patients

... [42]. Four of the EOPC patients in our cohort had a family history of any cancer but none had a first-degree relative with pancreatic cancer, and only one patient had a hereditary genetic syndrome (Lynch Syndrome) ... See full document

12

Ameloblastoma: Report of two Cases and A Brief Literature Review

Ameloblastoma: Report of two Cases and A Brief Literature Review

... recurrence rates, which vary between 50 and 90% after conservative treatment, several authors have supported surgical resection with safety margins for the treatment of solid or multicystic ameloblastomas and have ... See full document

6

Case Report Pathological features of myxopapillary ependymomas in lumbar spinal canal: report of two cases

Case Report Pathological features of myxopapillary ependymomas in lumbar spinal canal: report of two cases

... in tail sacrum, front sacrum, soft-tissue close sacrum and broad ligament; maybe originate from extradural residual terminal filament or nervi duct tail-end remnants [3]. The cases mainly come from the ... See full document

5

Early-onset schizophrenia: psychopathology and clinical features

Early-onset schizophrenia: psychopathology and clinical features

... or childhood or adole- scent or early-onset or juvenile] e [schizophrenia] e [psychopathology or phenomenology or premor- bid or prodromic or outcome or ... See full document

23

Cardiac involvement in hereditary myopathy with early respiratory failureA cohort study

Cardiac involvement in hereditary myopathy with early respiratory failureA cohort study

... METHODS All participants known to the John Walton Mus- cular Dystrophy Research Centre, Newcastle upon Tyne, United Kingdom, with the c.951434T.C; (p.Cys31712Arg) TTN mis- sense mutation had a 12-lead ECG and ... See full document

6

Original Article Endolymphatic sac tumor: clinical, radiological and pathological analyses of four cases

Original Article Endolymphatic sac tumor: clinical, radiological and pathological analyses of four cases

... similar features. We reviewed 4 patients of ELST and the clinical, radiologic and histopathological findings were ...Three cases were sporadic and 1 case was associated with VHL ...2%. ... See full document

6

Clinical features and treatment of maturity onset diabetes of the young (MODY)

Clinical features and treatment of maturity onset diabetes of the young (MODY)

... Typically, patients heterozygous for HNF1A mutations present in adolescence, or early adult life, with progressive β -cell failure and increasing hyperglycemia. In fact, β -cell dysfunction is seen to occur before the ... See full document

8

Original Article Clinical-pathological features and therapeutic strategies of malignant solid pseudopapillary tumor of the pancreas: cases report

Original Article Clinical-pathological features and therapeutic strategies of malignant solid pseudopapillary tumor of the pancreas: cases report

... SPT is a rare exocrine pancreatic tumor, which is well known for its predilection in young women and indolent biologic behavior. In the last 10 years, there has been a steady increase in the number of this disease. An ... See full document

5

Familial Mediterranean Fever: Clinical and Genetic Characteristics among Lebanese Pediatric Population

Familial Mediterranean Fever: Clinical and Genetic Characteristics among Lebanese Pediatric Population

... The percentage of colchicine non responders in this study (14.5%) was higher than that reported in the other ethnic groups (5% - 10%) [28] [29]. This could be attributed to the noncompliance, inappropriate dosage and ... See full document

11

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

... Interestingly, tissue culture studies have previously shown that overexpression of a-actinin also results in the formation of nemaline bodies (20, 21). On the genetic level, mutations in TPM3 (5) and NEB (this ... See full document

6

Original Article Pathological features of biopsy in autoimmune liver disease: a report of 109 cases

Original Article Pathological features of biopsy in autoimmune liver disease: a report of 109 cases

... [2] Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL, Chapman RW, Cooksley WG, Czaja AJ, Desmet VJ, Donaldson PT, Eddleston AL, Fainboim L, Heathcote J, Homberg JC, Hoofnagle JH, Kakumu S, Krawitt EL, ... See full document

6

Clinical Reasoning: A 38-year-old woman with childhood-onset weakness

Clinical Reasoning: A 38-year-old woman with childhood-onset weakness

... LMNA myopathy can be phenotypically heterogeneous, mani- festing as (1) autosomal dominant EDMD2, character- ized by childhood onset of elbow, posterior cervical, and ankle contractures and ... See full document

5

Case Report Clinical and pathological features in a case of angiomatous nasal polyp

Case Report Clinical and pathological features in a case of angiomatous nasal polyp

... aggressive clinical behavior such as exten- sive bone erosion and remodeling or epistaxis which could simulate malignancy preoperative- ly, and so be a source of diagnostic difficulty [2, ... See full document

6

Clinical, radiological, and pathological features of 33 adult unilateral thalamic gliomas

Clinical, radiological, and pathological features of 33 adult unilateral thalamic gliomas

... Tumor pathology has been generally accepted as key factor influencing survival [8, 28, 33]. Modern neuroim- aging methods have contributed to a better understand- ing of the patterns of tumor growth. Thalamic gliomas are ... See full document

11

Clinical and pathological analysis of 116 cases of adult adrenal cortical adenoma and literature review

Clinical and pathological analysis of 116 cases of adult adrenal cortical adenoma and literature review

... ACA is a benign tumor of the adrenal cortical cells. The pathogenesis of adrenocortical adenomas is currently obscure. Some researchers believe that adenoma nodules are formed from adenomatoid hyperplasia and that the ... See full document

7

Epidemiological, pathological and metabolomic characterisation of an acquired myopathy of dogs in New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Veterinary Science at Massey University,

Epidemiological, pathological and metabolomic characterisation of an acquired myopathy of dogs in New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Veterinary Science at Massey University, Manawatū, New Zealand

... Slow’ myopathy, grouped according to the time since onset of clinical signs ...Slow’ myopathy at time since initial onset of clinical signs ... See full document

17

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

... two cases has yet to be ...further cases of congenital myopathy (myotubular myopathy, congenital myotonic dystrophy type 1) with chylothorax of unknown cause have also been reported ... See full document

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