The results of more than eight years of screening for cystic fibrosis (CF), utilizing the albumin concentration in meconium, are reported. Over 28 000 meconium samples were tested, over 24 000 of them by the Boehringer-Mannheim strip test, and all samples considered as showing a trace or positive result were followed up by an immunological technique. Eight-three meconium samples contained more than 20 g albumin/kg dry weight meconium and five of these were from children who were found to have CF. One child with CF was missed in the screening. From these figures the sensitivity of the method for detecting CF children at birth was calculated to be 75%, the specificity 99.7%, the negative predictive value 100%, the positive predictive value 4.0% and the incidence of CF in Sweden about 1:4,500. The incidence of pathologically elevated meconium albumin concentrations was found to be 25 times higher in premature than in full-term infants. Since the number of false positive results creates a problem, we suggest that premature children (birth weight less than 2500 g) and newborns with melaena should be excluded from further follow-up studies.
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http://dx.doi.org/10.1111/j.1651-2227.1982.tb09527.x | DOI Listing |
Front Immunol
January 2025
Department of Pathology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hosipital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China.
In this article, we report the first case of a 61-year-old woman who was diagnosed with both nodules and cystic lesions in her lungs. The lung nodules were diagnosed as ALK-positive histiocytosis (APH) carrying an gene fusion, which microscopically displayed a mixed morphology of foamy cells, spindle cells, and Touton's giant cells. Immunohistochemistry showed expression of CD163, CD68, and ALK, while fluorescence hybridization (FISH) with second-generation sequencing (NGS) showed the ALK gene fusion with the FLCN gene variant.
View Article and Find Full Text PDFMycetoma is a neglected tropical disease that predominantly affects individuals in low socioeconomic strata, primarily in tropical and subtropical regions. This case report describes a 20-year-old male student from Bahdo City, Somalia, who presented with a persistent cervical mass following a history of trauma. The patient exhibited vital signs within normal limits, and imaging studies, including ultrasound and computed tomography, revealed well-defined cystic masses.
View Article and Find Full Text PDFSAGE Open Med Case Rep
January 2025
Division of Endocrinology, Department of Medicine, Walter Reed National Military Medical Center, Bethesda, MD, USA.
Uterine leiomyoma, also referred to as fibroid or myoma, is a prevalent benign tumor that can present with a range of clinical manifestations. The symptoms, which vary based on the tumor's location, size, and number, include pain, constipation, urinary disturbances, and abnormal menstrual bleeding. Certain types of uterine leiomyomas, such as pedunculated subserosal myomas or large degenerating cystic myomas, may closely mimic ovarian tumors, leading to significant diagnostic and management challenges.
View Article and Find Full Text PDFAME Case Rep
December 2024
Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Background: Uterine cystic adenomyosis (CA) is a unique form of adenomyosis with a single or fused lumen of the cystic space exceeding a diameter of 1 cm that typically results in progressively worsening dysmenorrhea. In most cases, the prognosis and pregnancy outcomes of CA remained unclear, and therefore further studies are warranted.
Case Description: A 19‑year‑old woman was admitted for irregular vaginal bleeding that lasted for more than one month.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
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