Background Neuroendocrine neoplasms (NENs) can arise in most of the epithelial organs of the body and are not a rare condition in the gastrointestinal tract (GIT). The presence of NENs in GIT associated with other secondary primary malignancies (SPM) has been considered an exotic event. This study aims to describe the case reports of NENs accompanied by synchronous primary tumors. Methods and findings We performed a systematic literature search of the databases Scopus, PubMed, Scielo and LILACS to identify case reports that described the presence of NENs in GIT with SPM. 78 case reports were included. The mean of age of the cases was 60.2 years. 60% were male. 95.4% were NENs G1. 17 cases of NENs had metastasis. 80% of SPM were recognized in the GIT (36% in stomach, 27% in large intestine, 11.2% in small intestine, and 5.6% in esophagus). The most common type of SPM was adenocarcinoma (49.4%), followed by GIST (13.5%), other NENs in different GIT segment (7.9%), lymphoma (6.8%), and squamous cell carcinoma (4.5%). The most common tumor in GIT was adenocarcinoma (97.6%) and the presence of adenocarcinoma in the same segment of GIT was found in 68.4% of the cases. Association between adenocarcinomas and NENs in GIT (p:<0.0001) and adenocarcinoma and tumor in the same segment of GIT location were observed (p<0.001). Conclusion These results demonstrate that NENs with SPM are not a rare condition. Several theories have been proposed to explain this association; one of these is the ability of NENs to generate synchronous tumors by autocrine and paracrine effect. We observed an association between adenocarcinomas and NENs in the same segment of GIT.
Rationale: Diffusion tensor imaging (DTI), diffusion tensor tractography (DTT), as well as resting-state-functional magnetic resonance imaging (rsfMRI) are promising methods for assessing patients with disorders of consciousness (DOCs). Patient concerns: This work describes the main findings using DTI, DTT, and rsfMRI in a patient with a DOC secondary to an anoxic encephalopathy who had a fatal outcome. She was an 85-year-old woman who presented a cardiac arrest and underwent cardiopulmonary resuscitation for 20 minutes then returning to spontaneous circulation. After sedation withdrawal, 2 days after the event, she remained with a Glasgow Coma Scale score of 3/15 and with an absence of brainstem reflexes. Diagnoses: DOC secondary to an anoxic encephalopathy after cardiovascular resuscitation. Interventions: A complete brain MRI scan was performed 72 hours after the initial event, including DTI, DTT, and rsfMRI. DTT demonstrated disruption of both ventral and dorsal tegmental tracts bilaterally. DTI showed a reduction of fractional anisotropic level in the mesencephalic nuclei. Moreover, changes in the number of fiber tracts were not evidenced in any portions of the ascending reticular activating system (ARAS). Finally, an increase in the anticorrelated and correlated association among the nuclei in the ARAS and the cortex was evidenced. Outcomes: Patient deceased. Lessons: Neuroimaging demonstrated low FA values in the ARAS, destruction of dorsal and ventral tegmental tracts, as well as hyper-connective (highly correlated or anti-correlated) association among ARAS and cortical nuclei compared with 3 healthy control subjects.
Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor is believed to be its cause. This is the first time this orphan disease is reported in Latin America, so the publishing of this report is expected to raise awareness on these types of syndrome, that are usually underdiagnosed in our region, which in turn causes an increase in the years lost to disability (YLDs) rates, as well as higher costs to be assumed by public health systems.Methods A 36-year-old Colombian woman diagnosed with parathyroid gland agenesis was referred from the Endocrinology Service to the Outpatient Service. According to her medical record, in the past she had developed hypocalcaemia, left renal agenesis, hypoparathyroidism, bicornate uterus and sensorineural hearing loss. Through a genetic analysis a pathological mutation on the short arm of the GATA 3 gen (c.404dupC, p Ala136 GlyfsTER 167) was confirmed, which led to a HDR syndrome diagnosis.Discussion This case proves that there is a possibility that mutations described in other continents may be developed by individuals from our region. Regardless of ethnicity, Barakat syndrome should be considered as a possible diagnosis in patients presenting the typical triad that has been described for this condition, since there could be underdiagnosis of this disease in Latin-America due to the lack of knowledge on this condition in said region, and that genetic counseling in these patients is of great importance for the implications of the syndrome in future generations.
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