phenylephrine-hydrochloride and Kidney-Diseases

Metastatic renal cell carcinoma (RCC) in the nose and paranasal sinuses is very rare. We report an unusual case of metastatic RCC that presented as recurrent epistaxis ten years after curative nephrectomy. The purpose of this report is to draw the attention of clinicians to the possibility of metastatic RCC in patients with recurrent epistaxis and nasal mass. We also discuss treatment options and review the relevant literature.

Topics: Adult; Carcinoma, Renal Cell; Chemoradiotherapy; Diagnosis, Differential; Epistaxis; Humans; Indoles; Kidney Diseases; Male; Neoplasm Metastasis; Nose; Nose Neoplasms; Positron-Emission Tomography; Pyrroles; Recurrence; Sunitinib; Tomography, X-Ray Computed

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders.

Topics: Abnormalities, Multiple; Anal Canal; Coloboma; Consanguinity; Fatal Outcome; Female; Genetic Association Studies; Humans; Hypertelorism; Infant; Infant, Newborn; Kidney Diseases; Male; Molecular Diagnostic Techniques; Mutation; Nose; Phenotype; Receptors, Interleukin; Rectal Diseases; Sequence Analysis, DNA

Dipropylene glycol is found in antifreeze, air fresheners, cosmetic products, solvents, and plastics. We studied the effects of dipropylene glycol on male and female rats and mice to identify potential or cancer-related hazards to humans.. We gave groups of 50 male and female mice drinking water containing dipropylene glycol at concentrations of 10,000, 20,000, or 40,000 parts per million (corresponding to 1%, 2%, or 4%) for two years. Male and female rats received concentrations of 2,500, 10,000, or 40,000 parts per million. Other groups received untreated water and were the control group. Tissues from more than 40 sites were examined for every animal.. The groups of animals receiving 40,000 ppm dipropylene glycol weighed less than the control animals. All the make rats receiving 40,000 ppm dipropylene glycol died before the end of the study, mainly because of kidney disease. All the other animal group survived as well as the controls. No increase in tumor rates were seen in any of the groups of rats or mice.. We conclude that dipropylene glycol did not cause cancer in male or female rats or mice. Exposure to dipropylene glycol did increase the rate and severity of kidney nephropathy and inflammation of the liver and salivary gland in male rats and some atrophy of the epithelial tissue of the nose in male and female rats.

Topics: Administration, Oral; Animals; Atrophy; Dose-Response Relationship, Drug; Female; Humans; Inflammation; Kidney Diseases; Liver; Male; Mice; Neoplasms; Nose; Propylene Glycols; Rats; Rats, Inbred F344; Risk Assessment; Salivary Glands; Sex Factors; Water Supply

Topics: Adenoviridae Infections; Ampicillin; Anal Canal; Bronchiectasis; Child; Child, Preschool; Cloxacillin; Complement Fixation Tests; Female; Finland; Follow-Up Studies; Gastroenteritis; Heart Diseases; Hemorrhagic Disorders; Hepatomegaly; Humans; Infant; Kidney Diseases; Male; Meningism; Meningoencephalitis; Nose; Parasympatholytics; Penicillins; Pneumonia, Viral; Pulmonary Fibrosis; Radiography

Topics: Diagnosis; Diagnosis, Differential; Granuloma; Granulomatosis with Polyangiitis; Hodgkin Disease; Humans; Kidney Diseases; Lung Diseases; Lymphoma, Large B-Cell, Diffuse; Lymphoma, Non-Hodgkin; Mastoid; Neoplasms; Nose; Nose Neoplasms; Paranasal Sinus Neoplasms; Prednisolone; Radiotherapy; Sarcoma