OpenMed/multicare-articles huggingface dataset:
Neurological expression of an inherited translocation of chromosomal 1 and 7
Authors: Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki
Journal: Neurosciences (Riyadh) (2017)
MeSH terms: Brain / abnormalities, Chromosomes, Human, Pair 1 / genetics, Chromosomes, Human, Pair 7 / genetics, Developmental Disabilities / diagnosis, Translocation, Genetic, Case Reports, Comparative Genomic Hybridization, Developmental Disabilities / diagnostic imaging, Developmental Disabilities / genetics, Female, Humans, Male, Pedigree

An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.
Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach
Authors: Mayra Gonçalves Menegueti, Alkmim-Teixeira Gil Cezar, Karin Aparecida Casarini, Kátia Simone Muniz Cordeiro, Anibal Basile-Filho, Olindo Assis Martins-Filho, Maria Auxiliadora-Martins
Journal: Crit Care Res Pract (2011)
MeSH terms: Case Reports

Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and details concerning the treatment of this disorder in the intensive care unit are presented. We believe that acute intermittent porphyria should be borne in mind during performance of differential diagnosis of neurological, psychiatric, and gastroenterological disorders on patients whose routine investigation tests are normal, especially when precipitating factors exist. Intensive care measures and a multidisciplinary team approach are essential.
Flow cytometry method as a diagnostic tool for pleural fluid involvement in a patient with multiple myeloma
Authors: Muzaffer Keklik, Serdar Sivgin, Cigdem Pala, Celalettin Eroglu, Gulsah Akyol, Leylagul Kaynar, M Yavuz Koker, Demet Camlica, Ali Unal, Mustafa Cetin, Bulent Eser
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

Multiple myeloma is a malignant proliferation of plasma cells that mainly affects bone marrow. Pleural effusions secondary to pleural myelomatous involvement have rarely been reported in the literature. As it is rarely detected, we aimed to report a case in which pleural effusion of a multiple myeloma was confirmed as true myelomatous involvement by flow cytometry method. A 52-years old man presented to our clinic with chest and back pain lasting for 3 months. On the chest radiography, pleural fluid was detected in left hemithorax. Pleural fluid flow cytometry was performed. In the flow cytometry, CD56, CD38 and CD138 found to be positive, while CD19 was negative. True myelomatous pleural effusions are very uncommon, with fewer than 100 cases reported worldwide. Flow cytometry is a potentially useful and simple method for detection of pleural fluid involvement in multiple myeloma.
Choroidal thickness in Waardenburg syndrome
Authors: Pukhraj Rishi, Priyansha Multani, Vishnu Vahan Prasan, Ekta Rishi, Yamini Attiku
Journal: GMS Ophthalmol Cases (2019)
Keywords: waardenburg syndrome, choroidal hypopigmentation, choroidal thickness, eye, heterochromia, optical coherence tomography, pigmentation
MeSH terms: Case Reports

Purpose: To assess the choroidal thickness in differently pigmented areas of the fundus in a 46-year-old female with Waardenburg syndrome. Methods: Retrospective, case review. Choroidal thickness was measured using swept-source optical coherence tomography (SS-OCT, Topcon DRI OCT-1 Atlantis) and compared between the pigmented and hypopigmented areas within the same eye and between the two eyes. Results: Best corrected visual acuity (BCVA) was 20/20 in both eyes. The right fundus had a variegated appearance without choroidal hypopigmentation. The left fundus had choroidal hypopigmentation beyond the superotemporal arcade up to the periphery. Subfoveal choroidal thickness was 455 µ in the right eye and 569 µ in the left eye. In the left eye, the comparison of two equidistant points from the foveola along a radial scan passing through the superotemporal hypopigmented area revealed a thinner choroidal thickness (457 µ) compared to the corresponding point in the pigmented inferonasal quadrant (591 µ). Conclusion: Choroidal thickness is decreased in the hypopigmented area of the fundus compared to the pigmented area in subjects with Waardenburg syndrome. The overall thickness of the choroid in such eyes could still be more than the mean value in the normal population.