Precision allergy molecular diagnostic applications (PAMD@) is increasingly entering routine care. Currently, more than 130 allergenic molecules from more than 50 allergy sources are commercially ...available for in vitro specific immunoglobulin E (sIgE) testing. Since the last publication of this consensus document, a great deal of new information has become available regarding this topic, with over 100 publications in the last year alone. It thus seems quite reasonable to publish an update. It is imperative that clinicians and immunologists specifically trained in allergology keep abreast of the new and rapidly evolving evidence available for PAMD@.
PAMD@ may initially appear complex to interpret; however, with increasing experience, the information gained provides relevant information for the allergist. This is especially true for food allergy, Hymenoptera allergy, and for the selection of allergen immunotherapy. Nevertheless, all sIgE tests, including PAMD@, should be evaluated within the framework of a patient's clinical history, because allergen sensitization does not necessarily imply clinical relevant allergies.
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral ...disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin. He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills. Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes. Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.
Abstract An effective, consistent and xeno-free cryopreservation technique is crucial for any human embryonic stem cell (hESC) laboratory with future perspectives for clinical application. This study ...presents a new slow freezing–rapid thawing method in serum-free conditions that allows the cryopreservation of a large number of colonies without the use of a programmable freezer. To test its efficacy, this method has been compared with two established vitrification methods and applied to three different hESC lines (H9, VAL-3 and VAL-5). The method is based on an increasing concentration of dimethylsulphoxide (1.0, 1.2, 1.5 and 2.0 mol/l) with a slow or a rapid cooling system. Using this method, approximately 60 colonies per cryovial could be cryopreserved, the survival rate ranged between 15 and 68% depending on the cell line used, and the majority of the surviving colonies were grade A. Post-cryopreserved hESC have been cultured for 20 passages, re-cryopreserved and re-thawed with consistent results. After thawing, cells retained the inherent undifferentiated characteristics of hESC and growth rate curve, with a stable karyotype, telomerase activity and teratoma formation when injected into severe combined immunodeficient animals, which was comparable with the fresh lines. This method has been tested for 3 years in two different laboratories.
Double Cystic Duct as Rare Anatomic Variant Valero-Liñán, Antonio Serafin; Stoyanov, Toni I.; Sanchez-Gallego, Alba ...
Journal of Biomedical and Clinical Research,
07/2019, Letnik:
12, Številka:
1
Journal Article
Recenzirano
Odprti dostop
The variations of the cystic duct are so common that only 30% of all humans present the classical anatomical arrangement between the common bile duct (CBD), the cystic duct, and adjacent arteries. ...Thus, it could be considered that anomalies of the biliary tree are a rule rather than an exception. Duplication of the cystic duct, however, is a very uncommon anatomical finding. In the Department of General and Digestive Surgery of the University Hospital Complex Albacete, a 73-year-old patient was admitted with symptoms of cholangitis. He underwent emergency surgery that found exacerbated chronic cholecystitis and dilation of the CBD. Cholecystectomy was performed with identification of a double cystic duct that drained separately in the CBD and exploration of the last revealed cholangitis without choledocholithiasis. The postoperative period progressed favourably, proceeding to discharge from the hospital with Kehr drainage closed. In conclusion, we consider that the routine use of intraoperative cholangiography when there is suspicion of anatomical variations of the biliary tree is mandatory to rule out lesions or alterations thereof.
Gangliocytic paraganglioma (GP) is an uncommon finding in the periampullary region of the duodenum. In the Department of General and Digestive Surgery of the Albacete University Hospital Complex, a ...45-years-old patient was diagnosed with a 17x13mm hypervascular nodular lesion in the descending part of the duodenum during an examination for hepatic hemangiomas. Ampullectomy was performed, followed by a favourable postoperative period. Histological analysis proved GP. There were no involvement of lymph nodes and a malignancy potential, so the clinical and radiological follow-up opted. In conclusion, because such tumours have unpredictable behavior, we recommend local resection of the tumour, except in cases in which local or ganglionic progression is suspected or confirmed, and thus cephalic pancreaticoduodenectomy (CPD) and lymphadenectomy are suggested.
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