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1.
Clin Chim Acta ; 492: 23-25, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30707895

RESUMEN

In this paper we describe how an accurate urinary sediment examination, which revealed the presence of a severe 2,8-dihydroxyadenine crystalluria, opened the way to an articulate and successful diagnostic and therapeutic roadmap for a rare and potentially severe renal disease.


Asunto(s)
Urinálisis , Adenina/análogos & derivados , Adenina/orina , Humanos , Enfermedades Renales/orina , Enfermedades Urológicas/orina
3.
Clin Chim Acta ; 479: 72-73, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29336936

RESUMEN

In this paper we describe a case with very unusual "needle- and pencil-like" crystals, partly similar to those reported by other investigators, who considered them as due to uric acid. Quite importantly, infrared spectroscopy investigation which, to our knowledge, we have been the first to perform on this type of crystals, confirmed their nature as uric acid structures. This case demonstrates that the planet of urinary crystals still has several unknown facets and still deserves exploration.


Asunto(s)
Ácido Úrico/química , Ácido Úrico/orina , Cálculos Urinarios/química , Cálculos Urinarios/orina , Cristalización , Humanos , Espectrofotometría Infrarroja
4.
Clin Chim Acta ; 471: 154-157, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28587955

RESUMEN

BACKGROUND: Crystals are well known structures of urinary sediment, most of which are identified by the combined knowledge of crystal morphology, birefringence features at polarized light, and urine pH. In this paper, we report on a cohort of subjects whose urine contained a very rare type of crystal, which we first described in 2004 and which, based on its peculiar morphology, we define as "daisy-like crystal" (DLcr). METHODS: Reports on DLcr were spontaneously sent to our laboratory over a 10.5-year period by different laboratory professionals and by one veterinary clinician who, in their everyday work, had come across DLcr. After the examination of DLcr images submitted, a number of other information were requested and partly obtained. RESULTS: DLcr were found in 9 human beings in 7 different laboratories, located in 4 countries (Italy, Belgium, Croatia, France). DLcr were found mostly in female (8/9), at all ages (3.5 to 93years), mostly in alkaline urine (pH6.0 to 7.5), at variable specific gravity values (1.010 to 1.030), either as isolated particles (2/8) or in association with other crystals (5/8) and/or leucocytes or bacteria (3/8). In addition, DLcr were found in the urine of a 1-year-old dog, examined in a veterinary clinic of Czech Republic. In 3 cases, DLcr were identified by manual microscopy, while in 7 cases by automated urine sediment analyzers. CONCLUSIONS: This paper confirms the possible presence in the urine of DLcr. However, further cases are needed to clarify their frequency, clinical meaning, and composition.


Asunto(s)
Oxalato de Calcio/orina , Fosfatos de Calcio/orina , Adulto , Anciano , Anciano de 80 o más Años , Animales , Preescolar , Cristalización , Perros , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
5.
Clin Chim Acta ; 466: 160-161, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28122200

RESUMEN

We describe three ways to take digital images of urine sediment findings. Way 1 encompasses a digital camera permanently mounted on the microscope and connected with a computer equipped with a proprietary software to acquire, process and store the images. Way 2 is based on the use of inexpensive compact digital cameras, held by hands - or mounted on a tripod - close to one eyepiece of the microscope. Way 3 is based on the use of smartphones, held by hands close to one eyepiece of the microscope or connected to the microscope by an adapter. The procedures, advantages and limitations of each way are reported.


Asunto(s)
Microscopía/métodos , Urinálisis/métodos , Humanos , Procesamiento de Imagen Asistido por Computador , Teléfono Inteligente , Urinálisis/instrumentación
6.
Clin Chim Acta ; 439: 107-11, 2015 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-25451946

RESUMEN

BACKGROUND: Urinary cytology (Ucytol), which is performed in pathology laboratories on fixed and stained samples, represents the gold standard for the identification of atypical/malignant urothelial cells (A/MUC) due to urothelial carcinoma. In this paper we describe three patients in whom A/MUC, due to a bladder carcinoma, were identified with conventional urine sediment (Used) examination on unfixed and unstained samples. METHODS: Included are urine samples prepared with conventional and standardized techniques as currently used in general clinical laboratories. Samples were examined with phase contrast microscopy. A/MUC were identified according to the criteria currently used for Ucytol. RESULTS: A/MUC (i.e., cells with unusual and pleomorphic size and shape, increased nuclear/cytoplasmic ratio, increased number of nuclei, irregular nuclear borders and irregular chromatin patterns, either isolated or in clusters) were identified in the urine of three patients, all of whom were found to have bladder carcinoma by cystoscopy. CONCLUSIONS: At variance with the common and widespread view, A/MUC can also be identified with conventional Used examination, even though Ucytol still represents the gold standard method.


Asunto(s)
Carcinoma de Células Transicionales/patología , Carcinoma de Células Transicionales/orina , Microscopía de Contraste de Fase , Neoplasias de la Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/orina , Anciano , Carcinoma de Células Transicionales/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Neoplasias de la Vejiga Urinaria/diagnóstico
7.
Int J Androl ; 24(2): 73-9, 2001 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11298840

RESUMEN

The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an attempt to increase the chance of detecting the presence of CFTR gene abnormalities, 37 patients with CBAVD and one patient with congenital unilateral agenesis of the vas deferens (CUAVD) underwent an enlarged diagnostic protocol, which included screening for the most expected mutations of the CFTR gene in our population, evaluation of the five thymidine (5T) allelic variant, sweat test, respiratory function tests, evaluation of steatocrit, and an accurate evaluation of the history of the patient to search for symptoms commonly found in patients with CF. A single CFTR gene mutation was found in 18 patients (48.6%) with CBAVD and in the patient with CUAVD. The most frequent mutation observed was the Delta F508. Eleven patients (45.8%) had the 5T variant and in five of them it was not associated with any detectable mutation of the CFTR gene. Two female partners were found to be carriers of a mutation, whereas 5 (18.5%) had the 5T variant. As many as 71% of CBVAD patients had the simultaneous presence of at least two signs and/or symptoms suggestive of CF, albeit they were of mild intensity and the patients felt fit and healthy. In conclusion, these results suggested that some patients with CBAVD without CFTR gene mutation or 5T variant, even when their sweat test is negative, may show clinical suspicion of carrying a CFTR gene mutation and therefore are at risk of generating children affected by CF if the partner carries a mutation as well. The screening for mutations and a careful clinical examination may contribute to better identification of patients with CFTR-related CBAVD.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Espermatozoides/fisiología , Anomalías Urogenitales/genética , Conducto Deferente/anomalías , Adulto , Femenino , Genotipo , Humanos , Masculino , Embarazo , Resultado del Embarazo , Inyecciones de Esperma Intracitoplasmáticas , Anomalías Urogenitales/fisiopatología
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