Descriptive Analysis of Carrier and Affected Hereditary Fructose Intolerance in Women during Pregnancy.

(1) Background: Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder resulting from aldolase B deficiency, requiring a fructose, sorbitol and sucrose (FSS)-free diet. Limited information exists on the relationship between pregnancy outcomes and HFI. This study aims to analyze pregnancy-related factors in a cohort of thirty Spanish women, with twenty-three being carriers and seven being HFI-affected (45 pregnancies). (2) Methods: A descriptive, cross-sectional and retrospective study utilized an anonymous questionnaire. (3) Results: Findings encompassed physical and emotional states, nutritional habits, pathology development and baby information. Notable results include improved physical and emotional states compared to the general population, with conventional analyses mostly within normal ranges. Persistent issues after pregnancy included hepatic steatosis, liver adenomas and hemangiomas. Carrier mothers' babies exhibited higher weight than those of patient mothers, while the weights of carrier children born with HFI were similar to disease-affected children. (4) Conclusions: Pregnant women with HFI did not significantly differ in physical and emotional states, except for nausea, vomiting, and cravings. Post-pregnancy, HFI patients and carriers exhibited persistent hepatic issues. Significantly, babies born to HFI-affected mothers had lower weights. This study sheds light on pregnancy outcomes in HFI, emphasizing potential complications and the need for ongoing monitoring and care.

Surgical Treatment of Obesity. Special Mention to Roux-en-Y Gastric Bypass and Vertical Gastrectomy.

Introduction: The prevalence of obesity has increased exponentially in recent decades, being one of the diseases that most affects global health. It is a chronic disease associated with multiple comorbidities, which lead to a decrease in life expectancy and quality of life. It requires a multidisciplinary approach by a specialized medical team. Obesity can be treated with conservative or with surgical treatments that will depend on the characteristics of the patient. Objective/Methodology: The referenced surgery can be performed using different surgical techniques that are analyzed in the present work through an exhaustive narrative bibliographic review in the PubMed and Cochrane databases, as well as in UpToDate. Results: Currently, those most used are restrictive techniques, specifically vertical gastrectomy and mixed techniques, with gastric bypass being the "gold standard". Conclusions: In order to choose one technique or another, the characteristics of each patient and the experience of the surgical team must be taken into account.

Diagnostic and therapeutic algorithm for pudendal nerve entrapment syndrome. / Algoritmo diagnóstico y terapéutico del síndrome de atrapamiento del nervio pudendo.

Pudendal nerve entrapment syndrome is widely unknown and often misdiagnosed or confused with other pelvic floor diseases. The aim is to develop a diagnostic and therapeutic algorithm based on a review of the existing literature. For its diagnosis, an anamnesis will be carried out in search of possible aetiologies, surgical history, and history of pain, assessing location and irradiation, intensity on the visual analogue scale, timing, triggering factors and rule out alarm signs. A physical examination will be performed, looking for trigger points or areas of fibrosis with transvaginal / transrectal palpation of the terminal branches of the nerve. With a doubtful diagnosis, an anaesthetic block of the pudendal nerve can be performed. Once the diagnosis is confirmed, the treatment will begin staggered with lifestyle changes, drug therapy and physiotherapy. In view of the failure of these measures, invasive therapies such as botulinum toxin injection, pulsed radiofrequency and decompression surgery or spinal cord stimulation will be used.

Ultrastructural and immunohistochemical study of phenotypic switch in gastrointestinal smooth muscle cells.

Dedifferentiation is a loss of phenotypic specialization that converts differentiated cells into adult stem cells in order to proliferate and differentiate into replacement tissue. This occurs in several tissues from various organs, such as smooth muscle cells (SMCs) of the mammalian gastrointestinal tract. The aim of this study was to describe ultrastructural and immunohistochemical changes in SMCs which could be compatible with a dedifferentiation process in human and rabbit intestinal muscles. Ultrastructural study and immunohistochemical staining (SMemb and MyoD) on human and rabbit duodenum tissue sections were performed. In both species, this dedifferentiation process is characterized by a loss of intercellular junctions, increased intercellular spaces, cytoskeletal disorganization, perinuclear accumulation of large vacuoles that tend to fuse, rupture of the vacuole membrane and release of cytoplasmic fragments. Dedifferentiated cells show the characteristic phenotype of a mesenchymal cell with scarce perinuclear cytoplasm, long cytoplasmic prolongations and finely distributed granular chromatin in the nucleus. These morphological changes are accompanied by a modulation to a less mature phenotype showing immunoreactivity for the embryonic form of the myosin heavy chain and for the myogenic regulatory factor MyoD. We suggest that SMC dedifferentiation includes the elimination of the contractile apparatus, the activation of the nucleus and the re-expression of embryonic markers. We described an ultrastructural dedifferentiation process possible in intestinal SMCs. This dedifferentiation process seems to play a key role in the homeostasis of the intestinal muscle.

Primary cilia in gastric gastrointestinal stromal tumours (GISTs): an ultrastructural study.

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal (non-epithelial) neoplasms of the human gastrointestinal (GI) tract. They are thought to derive from interstitial cells of Cajal (ICCs) or an ICC progenitor based on immunophenotypical and ultrastructural similarities. Because ICCs show primary cilium, our hypothesis is based on the possibility that some of these neoplastic cells could also present it. To determine this, an exhaustive ultrastructural study has been developed on four gastric GISTs. Previous studies had demonstrated considerable variability in tumour cells with two dominating phenotypes, spindly and epithelioid. In addition to these two types, we have found another cell type reminiscent of adult ICCs with a voluminous nucleus surrounded by narrow perinuclear cytoplasm with long slender cytoplasmic processes. We have also noted the presence of small undifferentiated cells. In this study, we report for the first time the presence of primary cilia (PCs) in spindle and epithelioid tumour cells, an ultrastructural feature we consider of special interest that has hitherto been ignored in the literature dealing with the ultrastructure of GISTs. We also point out the frequent occurrence of multivesicular bodies (MVBs). The ultrastructural findings described in gastric GISTs in this study appear to be relevant considering the critical roles played by PCs and MVBs recently demonstrated in tumourigenic processes.