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M Rafii

Publications and source records attributed to M Rafii.

At least 19 recordsLinked to original sources
PubMed2002

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.

BACKGROUND: X-Linked myopathy with excessive autophagy (XMEA) is a childhood-onset slowly progressive disease of skeletal muscle with no cardiac, nervous system, or other organ involvement. Pathology is distinctive: membrane-bound autophagic vacuoles, multifold reduplication of the basement membrane, and intense deposition of membrane attack complex and calcium at the myofiber surface. XMEA has been linked to the most telomeric 10.5 cM of Xq28. The authors now report identification of new families, refinement of the locus, mapping of genes to the region, and screening of candidate genes for mutations. METHODS AND RESULTS: Seven new families were ascertained, including an American family with XMEA. Using 11 new microsatellite genetic markers, the authors fine-mapped a recombination in this family and a common ancestral haplotype in two French families, which localized the gene in a 4.37-Mb region. Sequence data were assembled from public and private databases and a near-continuous sequence derived for the entire region. With this sequence, a gene map of 82 genes and 28 expressed sequence tag clusters was constructed; to date, 12 candidate genes have been screened for mutations. CONCLUSIONS: This study doubles the number of reported families with XMEA and more firmly establishes its distinctive clinicopathologic features. It also advances the search for the XMEA causative defect by reducing the disease locus to approximately half its previous size, assembling an almost complete sequence of the refined region, identifying all known genes in this sequence, and excluding the presence of mutations in 10% of these genes.

Adolescent↗
PubMed2001

Epithelioid hemangioma of bone.

Although no specific radiographic appearance has emerged to date for the epithelioid subtype of hemangioma, these lesions most typically exhibit well-defined osteolysis. Other relatively common features include surrounding sclerosis, cortical expansion and cortical destruction. We present a case of epithelioid hemangioma of the spine with an unusual radiological appearance which to our knowledge has not previously been reported: diffuse sclerosis of the involved vertebral body. The diffuse sclerosis seen in this case resembles the osteosclerotic process seen not only in benign entities such as subacute and chronic osteomyelitis, but also in malignant lesions such as osteoblastic metastatic disease and lymphoma.

Adult↗
PubMed2001

Immunolocalization of the angiogenetic factor pleiotrophin (PTN) in the growth plate of mice.

The aim of this study was to find out whether and where the angiogenic agent pleiotrophin (PTN) occurs within the growth plate. We investigated paraffin-embedded tissue sections of ten male mice with an antibody directed against the recombinant PTN. Immunostaining for PTN was positive within the cytoplasm and the pericellular matrix of osteoblasts which lined the longitudinal mineralized septae of the epiphyseal plate. Within the zone of hypertrophic chondrocytes, immunolabelling for PTN was positive in the pericellular matrix of hypertrophic chondrocytes and within the opened lacunae of the apoptotic hypertrophic chondrocytes. The resting zone and the proliferation zone were PTN negative. The results of our study suggest that the known angiogenetic peptide PTN plays a role in the process of angiogenesis in the growth plate.

Animals↗
PubMed2001

Imaging of musculoskeletal and spinal tuberculosis.

The diagnosis of tuberculosis of the musculoskeletal system is difficult for many reasons. As Walker states, to diagnose tuberculosis one must consider the possibility. The uncommonness of osteoarticular MTb results in clinician inexperience, which leads to overlooking the diagnosis. Subtle early manifestations may elude detection. Negative skin tests and normal chest films do not exclude the consideration of tuberculosis. The most conclusive means of reaching the diagnosis (biopsy and culture) necessitate invasive procedures that are not always definitive, and may require repeated attempts. Management and surgical decisions, however, rely on prompt diagnosis; diagnostic delay has prognostic implications and results in significant morbidity. Musculoskeletal tuberculosis produces no pathognomonic imaging signs, and in advanced stages mimics other disease processes. Despite these difficulties, the diagnostician's goal is to catch the disease as early as possible, because antibiotic treatment can lead to resolution and obviate more radical management. The radiologist must be aware of the groups at greatest risk, and typical and atypical presentations at imaging. The eventual eradication of MTb is conceivable, although not presently within our grasp. Maintaining reasonable suspicion and developing cognizance of the patterns of presentation allow the radiologist to diagnose efficiently the patient who presents with osteoarticular tuberculosis.

Diagnosis, Differential↗
PubMed2001

Iliopsoas tendinitis after total hip arthroplasty.

Determination of the cause of groin pain after total hip arthroplasty can be difficult. The case of a patient with an unusual cause of groin pain after total hip arthroplasty, iliopsoas tendinitis, is presented. The patient failed nonoperative treatment and underwent surgical release of the iliopsoas tendon with complete resolution of symptoms.

Adult↗
PubMed2001

Is resting metabolic rate different between men and women?

A low resting metabolic rate (RMR) has been proposed as a possible cause for the increased body fat commonly seen in women compared with men. Absolute RMR is higher in men, but whether RMR adjusted for lean body mass (LBM) remains higher is unresolved. The objective of the present study was to determine whether RMR adjusted for various body composition factors differed between healthy adult men and women. Thirty men years, BMI and twenty-eight women years, BMI were included in the analyses. RMR was measured by open-circuit indirect calorimetry for 60 min. Extracellular water (ECW) was measured by corrected Br(-) space and total body water (TBW) by 2H dilution. LBM was estimated as TBW/0.732. Intracellular water (ICW) was calculated as TBW-ECW, and body cell mass (BCM) as ICW/0.732. Men were heavier and had higher BMI, LBM, BCM and ECW, but less fat mass. Absolute RMR was higher in men than women v. P<0.0001). This difference became non-significant when RMR was adjusted for LBM by ANCOVA v. P=0.2191), but remained significant when adjusted for BCM v. P=0.0249). Fat mass explained a significant amount of variation in RMR in women (r(2) 0.28, P=0.0038), but not in men (r(2) 0.03, P=0.3301). The relationships between body fat and the various subcompartments of BCM and RMR require further elucidation.

Adipose Tissue↗
PubMed2000

Threonine requirement of young men determined by indicator amino acid oxidation with use of L-[1-(13)C]phenylalanine.

BACKGROUND: Threonine is an indispensable amino acid with a complex degradative pathway. Use of the indicator amino acid oxidation technique should provide an estimate of the threonine requirement that is not affected by its metabolic pathway. OBJECTIVE: Our objective was to determine the requirement for threonine in men by using the indicator amino acid oxidation method and to provide statistical estimates of the population mean and 95% CIs of the threonine requirement. We hypothesized that the current World Health Organization estimate of the threonine requirement, 7 mg*kg(-)(1)*d(-)(1) (based on nitrogen balance studies), is too low. DESIGN: Six healthy men each received 6 different threonine intakes while consuming an energy-sufficient diet with 1.0 g L-amino acid mixture*kg(-)(1)*d(-)(1). The effect of graded alterations in dietary threonine intake on phenylalanine flux and oxidation was studied by using L-[1-(13)C]phenylalanine as the indicator amino acid. RESULTS: The results of two-phase linear regression crossover analysis showed that the mean threonine requirement, based on indicator oxidation, was 19.0 mg*kg(-)(1)*d(-)(1) with an upper safe intake of 26.2 mg*kg(-)(1)*d(-)(1). CONCLUSIONS: This is the first application of the indicator amino acid oxidation technique in humans to study the requirement for an indispensable amino acid with a complex degradative pathway. We found that the upper safe intake for 95% of the population is almost 4-fold higher than the current World Health Organization estimate.

Adult↗
PubMed2000

Threonine dehydrogenase is a minor degradative pathway of threonine catabolism in adult humans.

The threonine dehydrogenase (TDG) pathway is a significant route of threonine degradation, yielding glycine in experimental animals, but has not been accurately quantitated in humans. Therefore, the effect of a large excess of dietary threonine, given either as free amino acid (+Thr) or as a constituent of protein (+P-Thr), on threonine catabolism to CO(2) and to glycine was studied in six healthy adult males using a 4-h constant infusion of L-[1-(13)C]threonine and [(15)N]glycine. Gas chromatography-combustion isotope ratio mass spectrometry was used to determine [(13)C]glycine produced from labeled threonine. Threonine intakes were higher on +Thr and +P-Thr diets compared with control (126, 126, and 50 micromol x kg(-1) x h(-1), SD 8, P < 0.0001). Threonine oxidation to CO(2) increased threefold in subjects on +Thr and +P-Thr vs. control (49, 45, and 15 micromol x kg(-1) x h(-1), SD 6, P < 0.0001). Threonine conversion to glycine tended to be higher on +Thr and +P-Thr vs. control (3.5, 3.4, and 1.6 micromol x kg(-1) x h(-1), SD 1.3, P = 0.06). The TDG pathway accounted for only 7-11% of total threonine catabolism and therefore is a minor pathway in the human adult.

Adult↗
PubMed1998

Primary multifocal tuberculous osteomyelitis with involvement of the ribs.

Two cases of primary multifocal tuberculous osteomyelitis with involvement of the rib cage are presented. The lungs were normal and the appearance of the skeletal lesions did not suggest tuberculosis. These lesions were predominantly lytic, with minimal soft tissue involvement. Tuberculosis should be high in the differential diagnosis of multiple destructive bone lesions, especially in patients from regions where tuberculosis is endemic.

Adult↗
PubMed1998

Tryptophan requirement in young adult women as determined by indicator amino acid oxidation with L-[13C]phenylalanine.

To determine tryptophan requirements with use of the indicator amino acid oxidation technique, we studied 5 healthy, premenopausal women who each consumed 6 different intakes of tryptophan. The energy-sufficient diet contained 1.0 g x kg(-1) x d(-1) of an L-amino acid mixture patterned after egg protein, with adequate phenylalanine (14 mg x kg(-1) x d(-1)) and excess tyrosine (40 mg x kg(-1) x d(-1)). The effect of graded alterations in dietary tryptophan on phenylalanine flux and oxidation was studied by using L-[1-(13)C]phenylalanine as the indicator amino acid. Graded increases in tryptophan had no effect on phenylalanine flux. Determined by two-phase linear regression crossover analysis, the mean tryptophan requirement based on indicator (phenylalanine) oxidation was 4.01 mg x kg(-1) x d(-1), with a safe intake at 5.02 mg x kg(-1) x d(-1). These results show that the indicator amino acid oxidation technique can be used to determine the requirement for amino acids such as tryptophan that cannot be successfully studied by direct oxidation because of their characteristic metabolism. Our value of safe intake for 95% of the population was found to be 43% higher than that reported previously for adults.

Adult↗
PubMed1997

Insufficiency fracture of the femoral head: MR imaging in three patients.

OBJECTIVE: The purpose of this report is to describe three patients in whom a presumptive diagnosis of insufficiency fracture of the femoral head was made on the basis of clinical and MR imaging findings. CONCLUSION: Femoral head insufficiency fracture should be included in the differential diagnosis of hip pain in the osteopenic elderly patient.

Aged↗
PubMed1997

MR imaging of glenohumeral instability.

Familiarity with normal anatomy and pathologic features of the capsulolabral complex as well as high resolution imaging are important factors in achieving a consistently high accuracy rate in diagnosis of glenohumeral instability by conventional MR imaging. In this article, the pathophysiology of glenohumeral instability and the various MR imaging findings are discussed and illustrated.

Adolescent↗
PubMed1997

MR imaging of the postoperative shoulder.

The field of MR imaging of the postoperative shoulder continues to evolve. As the indications expand for obtaining postoperative shoulder studies, there arises a need for delineation and definition of criteria associated with these imaging studies. Further investigations are necessary to analyze these data in greater detail, and to correlate these data to clinical situations.

Humans↗
PubMed1996

The spectrum of osteoarticular and soft tissue changes in patients with human immunodeficiency virus (HIV) infection.

In 1995, the World Health Organization reported that 18 million people worldwide have been infected with the human immunodeficiency virus (HIV), with projections that this number will increase to 30 to 40 million by the year 2000. Presently, in the U.S. over 1 million persons are infected. Approximately 40,000 people become newly infected each year in the U.S., a number equivalent to those who die from acquired immunodeficiency syndrome (AIDS) yearly. AIDS is now the leading cause of death in young men aged 25 to 44, and the third leading cause of death in women aged 25 to 44. A shift in the demographic profile of those infected has been noted, with an increasing proportion of minorities, heterosexuals, and children affected. The pathogenesis of HIV infection occurs mainly through immunosuppression, which increases the host's susceptibility to numerous infections. The increased incidence of certain neoplasms in this population point to the ability of the virus either to interfere with the host's tumor surveillance ability or to interact with other agents in tumorigenesis. Certain rheumatic diseases, likely with autoimmune etiologies, are increasingly being associated with HIV. The musculoskeletal system is but one of the sites in which the radiologist must always maintain a high index of suspicion for HIV or AIDS-related disease. The spectrum of osteoarticular and soft tissue changes observed in this population is described.

Adult↗
PubMed1995

Avascular necrosis of carpal bones.

MR imaging is extremely well suited to detection of early phases of avascular necrosis, permitting diagnosis before collapse of the carpal bones has occurred. The sensitivity of this imaging modality allows differentiation of subtle changes in the bone marrow signal. This is used as criteria for a new stage classification of Kienböck's disease based on MR imaging appearance. The prognosis of scaphoid fractures and estimation of likelihood of avascular necrosis of the proximal fragment can be inferred by using gadolinium enhancement to evaluate the bone marrow vascularity.

Carpal Bones↗