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N Nadkarni

Publications and source records attributed to N Nadkarni.

13 recordsLinked to original sources
PubMed2000

The Frontal Behavioral Inventory in the differential diagnosis of frontotemporal dementia.

A personality and behavioral disorder is an important and defining feature of frontal lobe dementia (FLD) or frontotemporal degeneration (FTD). The diagnosis usually depends on the progressive development of various behavioral symptoms rather than a set of neuropsychological measures. Quantification of the personality-behavior disorder is important for standardizing the diagnosis. An inventory was constructed to capture the major positive and negative behaviors and personality change, and it was administered prospectively to caregivers of 108 patients in a cognitive neurology clinic, at the time of first diagnostic assessment. The prevalence and extent of behavioral abnormality was quantitated in the clinic population of FLD, vascular dementia (VaD), Alzheimer's disease (AD), primary progressive aphasia (PPA), and depressive disorder (DD) patients. The mean scores of FLD patients were significantly above all other groups. Scores in VaD were also higher than in AD, PPA, and DD. Interrater reliability (Cohen's kappa of .90) and item consistency (a Cronbach alpha of .89) were both high. Perseveration, indifference, inattention, inappropriateness, and loss of insight rated highest in FLD, significantly different from all other groups. Apathy, aspontaneity, inflexibility, disorganization, impulsivity, personal neglect, and poor judgment were also significantly higher in FLD. Discriminant function correctly classified 92.7% versus all other patients (NON-FLD) in the study. A total of 18.8% of VaD patients were misclassified as FLD. Indifference, alien hand, and inappropriateness were the highest discriminant functions. Perseveration and verbal apraxia were important discriminatory items for FLD and PPA, respectively. The FBI is a standardized behavioral inventory useful to diagnose FLD, to differentiate it from other dementias, and to quantify the behavior disorder.

Aged↗
PubMed1995

Amyloidosis causing a progressive myopathy.

A 62-year-old woman developed profound weakness secondary to a progressive myopathy associated with primary systemic amyloidosis. The characteristic apple-green birefringent amyloid deposits were demonstrated surrounding individual muscle fibers in Congo red stained sections. Electron microscopy demonstrated amyloid filaments in close apposition to muscle fibers exhibiting excessive corrugations of the sarcolemmal membrane. The pathological features of progressive amyloid myopathy associated with primary systemic amyloidosis are distinct from the intracellular amyloid deposits characteristic of sporadic inclusion body myositis and inherited inclusion body myopathy.

Amyloidosis↗
PubMed1994

Linkage mapping of the spinal muscular atrophy gene.

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at theta = O excluding two unlinked families, and Zmax = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closet centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.

Adolescent↗
PubMed1994

The impact of molecular genetics on the care of patients with muscle disease.

Clinical medicine is currently undergoing an enormous upheaval as a result of molecular genetics. Identifying the gene causing a specific disease almost immediately provides knowledge of the gene product and insight into pathogenesis. Mutations of the gene and measurable abnormalities of the gene product provide specific methods for diagnosis, prenatal counseling, and carrier detection. Perhaps, most importantly, new treatment strategies can be devised. In the review that follows, an update is provided on molecular findings in muscle diseases and how they can be applied in clinical practice.

Adolescent↗
PubMed1986

Primary tuberculosis of the retina.

A case of pseudoglioma diagnosed on histopathology to be retinal tuberculosis is presented with a general review of the literature on ocular tuberculosis. The case is peculiar in that retinal tuberculosis occurred without concomitant involvement of the choroid.

Child, Preschool↗
PubMedDate not supplied

Solid and papillary epithelial neoplasm of the pancreas. Report of a case with diagnosis by fine needle aspiration cytology.

BACKGROUND: Solid and papillary epithelial neoplasm of the pancreas is a distinct clinicopathologic entity. It has a benign clinical course, and surgical resection can be curative. CASE: A 17-year-old female presented with a mass measuring about 12 cm in the epigastrium and left hypochondrium. Fine needle aspiration cytology (FNAC) showed papillae with a central fibrovascular core and lined with many layers of bland-appearing cells exhibiting nuclear grooving. These features, along with ultrasound and computed tomographic findings, led to an accurate preoperative diagnosis. CONCLUSION: In the setting of typical clinical and radiologic findings, it is possible to make a correct preoperative diagnosis by FNAC. Doing so has important implications for management.

Adolescent↗