Exploring a Rare Pulmonary Coinfection: Cryptococcal Pneumonia and Exophiala dermatitidis in an Immunocompetent Host.

Pulmonary cryptococcosis is becoming increasingly common in immunocompetent hosts, manifesting with variable clinical presentations ranging from asymptomatic colonization to severe pneumonia. Radiological findings are non-specific, such as nodular infiltrates, mass-like lesions, and mediastinal lymphadenopathy. We present a case of a 61-year-old woman with pneumonia coinfected with , an unusual occurrence in an immunocompetent host and the first of its kind.

High-Grade Atrioventricular Block Reveals Rare Transthyretin Cardiac Amyloidosis With Unique Hemodynamics.

Atrioventricular (AV) block is a common cardiac conduction disorder that is frequently encountered in clinical practice; however, the association with rare systemic conditions such as transthyretin amyloidosis (ATTR) is heavily underdiagnosed. ATTR amyloidosis is a systemic disorder characterized by the deposition of abnormal transthyretin protein fibrosis in various organs including the heart and vasculature, resulting in progressive organ dysfunction. We present a rare case of high-grade AV block unveiling ATTR cardiac amyloidosis with unusual hemodynamics, specifically severe supine hypertension with severe orthostatic hypotension.

Unexpected Relapse: Insights Into Granulomatosis With Polyangiitis.

Granulomatosis with polyangiitis (GPA) is a rare vasculitis that can pose a significant mortality risk given its multiorgan involvement and is the most common of the three anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitides. Cardinal pathological features include necrotizing granulomas of the respiratory tract, small and medium vessel vasculitis, and glomerulonephritis. Early treatment is imperative to reduce permanent organ damage such as end-stage kidney disease.

Congenital hepatic fibrosis: case report and review of literature.

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli's disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). Although CHF was first named and described in detail by Kerr et al. in 1961.

Infantile myofibromatosis.

Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a "typical" case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889-D11S1321, Z(max) = 4.

Effect of prednisone on protein metabolism in Duchenne dystrophy.

Prednisone improves strength in Duchenne dystrophy and changes the natural history of the disease. We studied the in vivo effects of prednisone (0.75 mg.

Ragged red fibers in normal aging and inflammatory myopathy.

Ragged red fibers are an important marker for mitochondrial disease. To evaluate the hypothesis that mitochondrial dysfunction may play a role in the pathogenesis of aging and inclusion body myositis, we studied the frequency of ragged red fibers in muscle biopsy specimens from 15 young and 13 old normal adults, and from 27 patients with inclusion body myositis, polymyositis, or dermatomyositis. Serial transverse cryostat sections were stained with modified Gomori trichrome, modified succinic dehydrogenase, and cytochrome c oxidase.

Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction.

Objectives: To characterize the dementia associated with adult polyglucosan body disease (APBD) and to correlate the cognitive deficits with abnormalities found on magnetic resonance imaging (MRI).

Methods: Quantitative neuropsychological testing and MRI in one man with APBD and a review of the literature.

Results: The dementia of APBD affects cortical and subcortical functions.

Forearm 3-methylhistidine efflux in myotonic dystrophy.

Myotonic dystrophy is associated with progressive muscular atrophy. To define the mechanism of muscle wasting in this disease, we studied myofibrillar proteolysis in vivo in 8 men moderately affected with myotonic dystrophy, and compared the results with those of 10 normal men. Myofibrillar proteolysis was estimated by measuring the 3-methylhistidine arteriovenous difference (A-V) and efflux (Q) across the forearm in the postabsorptive state.

Intranuclear rods in severe congenital nemaline myopathy.

We compared the muscle pathology and clinical course in eight patients with congenital nemaline myopathy. An abundance of large intranuclear rods was present in the muscle fibers of one patient with a rapid, fatal course. Intranuclear rods were not present in the muscles of seven patients with a benign course.

Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and 1 African-American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non-Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non-Jewish patients.