Taste dysfunctions influence food choices, interpersonal communication and danger/health. A gustometry protocol is the mainstream for clinical taste disorders diagnosis and suggests possible therapeutics. No clinical gustometry protocol has been adapted and validated to the Portuguese population so far. We aim to validate a gustometry protocol based on strips made from filter paper impregnated with different taste solutions. Four concentrations each for sweet, sour, salty and bitter were administered to 75 subjects. Hypogeusia threshold is of 4.8 in this population. Repeated measures indicated a good reliability and validity for the taste strips (ρ 75 = 0.68, p < 0.001). Although Mediterranean food implies a heathy eating pattern, taste threshold scores may be lower because of its habituation to natural food flavoring. The taste strip gustometry protocol can be applied to the clinical practice in Portugal. It is quick, effective and cheap. The diagnostic utility of this method is indisputable, as well as the advantages we can obtain with its application, for early diagnosis and distinction between disorders of taste and smell.
Summary Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disease, characterized by the absence of subcutaneous adipose tissue, leptin deficiency and severe metabolic complications, such as insulin resistance, diabetes mellitus, and dyslipidemia. The most common mutation occurs in BCSL2 which encodes seipin, a protein involved in adipogenesis. We report a patient with BSCL who was diagnosed with diabetes at 11 years old. He was started on metformin 1000 mg twice daily, which lowered glycated hemoglobin (HbA1c) to less than 7%. Four months later, HbA1c raised above 7.5%, indicating secondary failure to metformin. Therefore, we added the peroxisome proliferator-activated receptor-gamma (PPARG) agonist, pioglitazone. Since then and for the last 5 years his HbA1c has been within the normal range. These findings indicate that pioglitazone should be considered as a valid alternative in the treatment of diabetes in BSCL patients. To the best of our knowledge, this is the first specific report of successful long-term treatment with pioglitazone in a patient with BSCL. Learning points Berardinelli–Seip congenital lipodystrophy (BSCL) is a recessive genetic disorder associated with severe insulin resistance and early onset diabetes, usually around puberty. Failure of oral antidiabetic medication occurs within the first years of treatment in BSCL patients. When failure to achieve metabolic control with metformin occurs, pioglitazone may be a safe option, lowering insulin resistance and improving both the metabolic control and lipodystrophic phenotype. Herein we show that pioglitazone can be a safe and efficient alternative in the long-term treatment of BSCL patients with diabetes.
Primary retroperitoneal mucinous cystic neoplasms (PRMCN) with borderline malignancy are exceptionally rare tumours with lack of pathognomonic clinical and imaging-specific features. Here, we report a case of PRMCN with borderline malignancy in a 62-year-old woman who presented with abdominal pain. Imaging studies revealed a well-defined cystic mass on the right flank in close relation with the cecum and caecal appendix, without other findings suggestive of malignancy. A possible diagnosis of an ovarian epithelial tumour was ruled out intraoperatively. After surgical excision, microscopic examination allowed the final diagnosis. As there is no evidence of disease during follow-up, complete tumour resection without cystic rupture appears to be the best therapeutic option. Thus, although rare, this tumour should be considered when imaging findings suggest an ovarian mucinous neoplasm in women with normal ovaries. An international registry for rare tumours and longer follow-ups may contribute for more consistent approach for managing these patients.
Placental site trophoblastic tumour (PSTT) is a very rare form of gestational trophoblastic disease that grows slowly, secretes low levels of beta-subunit of human chorionic gonadotropin (β-hCG), presents late-onset metastatic potential and is resistant to several chemotherapy regimens. Here, we report a case of PSTT in a 36-year-old woman who presented with amenorrhea and persistently elevated serum level of β-hCG after a miscarriage. Transvaginal ultrasound revealed a hypovascular ill-defined solid lesion of the uterine fundus and MRI showed a tumour infiltrating the external myometrium with discrete early enhancement and signal restriction on diffusion-weighted imaging. PSTT was suspected, and after endometrial biopsy by hysteroscopy and posterior hysterectomy, microscopic examination allowed the final diagnosis. The level of β-hCG dropped significantly in about a month after surgical treatment. Due to the rarity of PSTT, reporting new cases is crucial to improve the diagnosis and managing of these patients.
Multiple endocrine neoplasia type 1 ( MEN1 ) is an autosomal dominant disease characterized by the development of tumoral lesions usually benign in different glands. The most common tumors involve the parathyroid, pituitary and endocrine pancreas. Over 1300 mutations of MEN1 gene have been identified in approximately 4000 patients. Attempts to identify a correlation between genotype and phenotype have been unsuccessful as symptoms can vary among families and even among relatives that share the same mutation. The aim of this work is to characterize a family with a new mutation of MEN1 gene, through clinical findings, biochemical tests, and morphologic exams. The index case is a 38 years-old man with recurrent renal lithiasis during the last 20-years. In addition to the primary hyperparathyroidism, the patient also presented a pituitary microadenoma with hyperprolactinemia. The coexistence of these two manifestations suggested the diagnosis of MEN1 . Genetic tests detected a new heterozygous germinal mutation in the exon 9 of the gene MEN1 : c.1321_1323 dup TGG, which is expected to lead to a duplication of the tryptophan (p.Trp 441dup) of the MENIN protein. This variant is not described in the available databases ( 1000 Genomes e ExAC ) nor in the ClinVar (online public archive). The analysis in silico performed with the software Mutation Taster classified this variant as the “pathogenic.” The family history of the patient was collected and a genealogical tree of the family was made. Written informed consent was obtained. The genetic diagnosis proposed to the members of this family identified 14 carriers of the mutation across 3 generations (including the index case), aged between 5 and 71 years old. A screening program to search for alterations in MEN1 positive carriers showed that primary hyperparathyroidism was the most common manifestation involving 6 patients. However, only 50% (2/4) of the subjects above 60 years-old were affected what is in favor of a low penetrance of this mutation. In three adult carriers, the only clinical manifestation was the presence of non-functional pancreatic (3) and lung (1) neuroendocrine tumors; Cushing's disease was the first and so far unique manifestation of the disorder in an 18-year-old girl. Despite sharing the same mutation and being exposed to similar environmental conditions as they all live on the same island, carriers of the mutation in this family presented variable phenotypes. This finding suggests that the nature and effect of the second hit that triggers the tumoral lesion in patients that carry the genomic mutation are mainly unknown. On the other side, this phenotypic variability demands the definition of a screening protocol, to correctly value the clinical manifestations and biochemical...
Prolactinomas are the most common pituitary adenomas. The majority occurs sporadically in women at childbearing age. Only 5% have a genetic etiology usually in the context of MEN1 syndrome, Carney Complex or McCune-Albright Syndrome. Mutations of the AIP gene (aryl hydrocarbon receptor interacting protein) are also associated with familial cases of pituitary adenomas, however with low penetrance (20-23%) (1). Specific characteristics of pituitary adenomas, as the size of the tumor, age of onset and the existence of multiples cases in the same family, may predict a genetic origin. Giant prolactinomas are the largest prolactinomas and contrasting with micro and macroprolactinomas they are found mainly in young males. We wondered whether these tumors have a genetic etiology. With this purpose in mind, we studied four male patients, aged 26 to 42 years who presented pituitary adenomas (>4 cm in diameter) with prolactin levels above 4000 ng/ml (normal 10-21 ng/ml). Diagnosis of large pituitary adenomas in young males, from the same small community, pointed to a possible common genetic origin. After extraction of peripheral blood DNA, samples were analyzed by Next Generation Sequencing (NGS) and using the TruSightCancer Gene Set (Illumina) methodology. Investigation of significant deletions and/or duplications was performed using the MLPA (Multiplex ligation-dependent probe amplification) technique. No mutation in the MEN1 gene was detected. A mutation of the AIP gene c.47G>A expecting to lead to a substitution of arginine by histidine at position 16 (p.Arg16His) of the aryl hydrocarbon receptor interacting protein, was identified in two patients. Both inherited the mutation from their fathers. The mutation was not found in other members of their families. The prolactin level in one of the affected fathers was 240 ng/ml and the CT scan showed a microprolactinoma of 6 mm. No pituitary alterations were found in the other progenitor harboring the mutation. This variant of the gene AIP (p.Arg16His) is described in a database of 1000 Genomes and ExAC with an allelic frequency in the European population of 0.3%. I n silico analysis and the information available in the literature as well as in databases are not concordant regarding the pathogenicity of this alteration in AIP gene. However, the familial segregation study in our patients is in favor of its pathogenicity. In conclusion, the variant of the AIP gene identified in the present study may be associated with giant prolactinomas. 1)Hernández-Ramírez LC et al.; International FIPA Consortium. Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in...
Background: Germline mutations in the Aryl hydrocarbon receptor-Interacting Protein (AIP) gene are associated with pituitary adenomas in young patients usually in the setting of Familial Isolated Pituitary Adenomas (FIPA). The majority of these adenomas are somatotropinomas followed by prolactinomas, and rarely non-secreting adenomas. AIP-mutation-related prolactinomas predominantly affect men, as opposed to sporadic prolactinomas, that typically affect women. Clinical Case: We previously described an AIP gene mutation in two patients affected by prolactinomas. During the past years, we continued our study and have identified two more male patients with macroprolactinomas originally from the same small village and harboring the same AIP gene mutation. These male patients aged 19 to 44 years at the time of diagnosis. Two of them had neurological manifestations as the first clinical manifestation of the disease, one was studied because of hypogonadism and two patients had visual field defects. All of them had prolactin levels above 1000 ng/dl (mean 2946.5±948.7 ng/dl, reference range 10-21). In the imaging exams (CT/MRI) they presented pituitary adenomas larger than 20 mm (macroprolactinomas) and in two of the cases, the adenomas were even larger than 40 mm (giant prolactinomas). In order to exclude mutations most often associated with prolactinomas, DNA samples were obtained and analyzed by Next Generation Sequencing (NGS) using TruSightCancer Gene Set (Illumina) methodology. Investigation of significant deletions and/or duplications was performed using the MLPA (Multiplex ligation-dependent probe amplification) technique. None of the patients were positive for mutations of Multiple Endocrine Neoplasia type 1 (MEN1) gene. A variant of the AIP gene c.47G>A, expecting to lead to a substitution of arginine by histidine at position 16 (p.Arg16His) of the AIP was found in these four patients, including a father and his son. Seven asymptomatic carriers were identified among their first-degree relatives. In silico analysis and the information available in the literature, as well as in databases is not in agreement with the pathogenicity of this variant of the AIP gene. However, our findings point to a founder effect transmitted as a dominant trait with incomplete penetrance (4 out of 11 patients, 36%). Conclusion: The variant of the AIP gene identified in our patients behaved as a pathogenic mutation and was only associated with prolactinomas, including two giant prolactinomas.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.