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Biomedical subjects

M J Nowicki

Publications and source records attributed to M J Nowicki.

At least 19 recordsLinked to original sources
PubMed2001

Solitary rectal ulcer: a rare cause of gastrointestinal bleeding in an adolescent with hemophilia A.

Solitary rectal ulcer syndrome (SRUS) is a rarely reported condition in children. The typical presentation is one of anorectal pain with passage of blood and mucus per rectum in the setting of defecation abnormalities. Diagnosis is made via endoscopy and biopsy. Solitary rectal ulcer syndrome alone is usually a benign condition; however, significant morbidity can occur if complicated by underlying disease states. We report an adolescent with hemophilia A and SRUS who presented with a rectal bleed that required blood transfusion.

Adolescent↗
PubMed2001

Colonic chicken skin mucosa: association with juvenile polyps in children.

OBJECTIVES: Chicken skin mucosa is a newly described endoscopic finding associated with colonic neoplasms in adults. Chicken skin mucosa was sought in children with juvenile polyps to determine the prevalence, endoscopic features, and location. An alternative theory is proposed for the pathogenic mechanism of this finding. METHODS: Children having colonoscopy and polypectomy were prospectively evaluated for the presence of chicken skin mucosa. The location of the polyps was determined at colonoscopy; the size of removed polyps was measured during processing of samples in pathology. Biopsies from colonic chicken skin mucosa were stained with hematoxylin and eosin and mucicarmine. RESULTS: Over a 1-yr period, 27 juvenile polyps were removed from 15 children at colonoscopy. Eleven of 15 children (73%) were found to have polyps with chicken skin mucosa; overall, 43% of the polyps had associated chicken skin mucosa. Chicken skin mucosa-positive polyps were larger than chicken skin mucosa-negative polyps and were only found in the rectosigmoid colon. Lipid-laden macrophages were found in all samples of chicken skin mucosa tested. CONCLUSIONS: Chicken skin mucosa is a common finding in children with juvenile polyps. It probably is the result of local mucosal trauma, rather than a preneoplastic lesion.

Adolescent↗
PubMed2001

Longitudinal variability of human immunodeficiency virus type 1 RNA viral load measurements by nucleic acid sequence-based amplification and NucliSens assays in a large multicenter study.

Human immunodeficiency virus type 1 (HIV-1) RNA measurements were evaluated within an externally controlled multilaboratory program. Three external standards (1.5 x 10(3) to 1.5 x 10(6) copies/ml) were included in 814 assay runs by four laboratories. Results indicate that HIV-1 RNA levels can be measured with a precision equal to that of the pre-highly active antiretroviral therapy era (standard deviations, +/-0.16 to 0.25 log10 units).

HIV Infections↗
PubMed1998

The hereditary hyperbilirubinaemias.

The presence of jaundice in the neonate, infant or young child presents a broad differential diagnosis. The 'disease' may be benign, as in breast-milk jaundice, or potentially fatal, as in hereditary fructose intolerance. The cause of the jaundice may be a primary hepatic disorder, such as extrahepatic biliary atresia, or secondary to a non-hepatic cause, such as haemolysis or sepsis. There may be significant hepatic injury and dysfunction, as in fulminant viral hepatitis, or simply elevation of plasma bilirubin, as in Gilbert's syndrome. In this chapter we will discuss the familial hyperbilirubinaemia syndromes. This diverse group of disorders is characterized by hepatic dysfunction in the absence of hepatocellular injury. The first section of the chapter will discuss the unconjugated hyperbilirubinaemias: Crigler-Najjar syndrome I, Crigler-Najjar syndrome II and Gilbert's syndrome. The discovery of the gene for bilirubin uridine diphosphate glucuronosyltransferase has increased our understanding of the genetic heterogeneity and clinical presentation of the Crigler-Najjar syndromes. The remainder of the chapter will discuss the conjugated hyper-bilirubinemias: Rotor syndrome and Dubin-Johnson syndrome. These rare diseases share many clinical features; however, they can be readily distinguished by biochemical markers in the urine and bile.

Humans↗
PubMed1998

Other hereditary diseases and the liver.

In this chapter, an abbreviated account is presented on the subject of hereditary diseases and the liver. However, it is incomplete because Alagille syndrome, storage disorders, alpha-1-antitrypsin deficiency and Wilson disease are not included as they appear in other chapters of this volume. Biliary atresia is omitted because all available evidence does not support any significant genetic association. Molecular biological techniques have enabled linkage of several liver cholestatic disorders to chromosomal loci, and further characterization of the canalicular bile salt transporter (cBST) will advance our understanding of pathogenetic mechanisms involved in benign and progressive cholestatic syndromes. Disorders that have been treated as separate entities may have common 'roots', exemplified by the concept of the ductal plate malformation in fibropolycystic disease. Whereas the majority of disorders referred to in this chapter present early in life, there are several that are associated with liver failure in the neonatal period, which makes early recognition particularly important. Liver transplantation offers a cure for many hereditary disorders affecting the liver but it is not applicable to all.

Humans↗