Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis.

Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease, while hemochromatosis primarily affects function of the liver, heart, and pancreas through excess iron deposition. No clear association between the two diseases has been delineated.

Squamous cell carcinoma of the cervix: a cytology-histology-human papillomavirus correlation in clinical practice.

Context: Cervical cancer mortality has declined by 74% in the United States since the implementation of the Papanicolaou (Pap) test. Nevertheless, more than 12,000 US women annually develop cervical cancer, and squamous cell carcinoma (SqCa) remains the predominant cervical malignancy.

Objective: To evaluate screening techniques used in the detection of SqCa of the cervix and provide insights regarding which technique(s) is (are) most efficacious in our study population.

Glandular Lesions of the Cervix in Clinical Practice: A Cytology, Histology, and Human Papillomavirus Correlation Study From 2 Institutions.

Context: The Papanicolaou (Pap) test has indisputably decreased cervical cancer mortality, as rates have declined by up to 80% in the United States since its implementation. However, the Pap test is considered less sensitive for detecting glandular lesions than for detecting those of squamous origin. Some studies have even suggested an increasing incidence of cervical adenocarcinoma, which may be a consequence of a relatively reduced ability to detect glandular lesions with cervical cancer screening techniques.

Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.

Within a 7-month period at our institution, newborn screening by tandem mass spectrometry revealed 10 cases with elevated levels of malonylcarnitine, which suggested malonic aciduria. Malonic aciduria is a rare autosomal recessive inborn error of metabolism. Confirmatory testing yielded normal results in all the newborns involved.