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.

Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance.

INTRODUCTION: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges. AIM: Our aim was to compile pertinent information on the differential diagnosis of this pathology based on patient symptoms, facilitating the development of a diagnostic algorithm for early identification. METHODOLOGY: A systematic review adhering to PRISMA guidelines was conducted on empirical studies from PubMed, encompassing a total of 35 studies. RESULTS: Individuals with fructose intolerance may acutely experience postprandial symptoms such as hypoglycemia, vomiting, and abdominal distension. Despite proper treatment, chronic complications such as fatty liver, Fanconi syndrome, growth deficiency, and irritable bowel syndrome may arise. The proposed diagnostic algorithm aims to minimize these adverse processes. CONCLUSIONS: Understanding the pathogenesis enables prompt diagnosis and prevention of chronicity. Establishing continuity of care from pediatric to adult medicine is crucial, and disseminating information to non-pediatric endocrinologists is imperative for managing this rare disease.

Influence of insole material density in the stability of patients with prosthetic unilateral transtibial amputation.

People with lower limb amputation present greater displacements of their centre of gravity in a static situation than able-bodied individuals, as they depend on visual information to a greater extent, which implies an altered stability pattern. The efficacy of different hardness of plantar support to help maintain stability has not yet been determined. The aim of the present study is to assess stability in people with unilateral transtibial amputation with prosthesis in a static situation with insoles of different degrees of hardness and visual conditions with respect to the able-bodied population. For this purpose, 25 patients with amputation and 25 able-bodied individuals were included in both groups, postural stability was assessed by stabilometry. This assessment was carried out under normal conditions (on the floor of the dynamometric platform with eyes open), and under altered conditions (with the interposition of different materials such as plantar support: rigid and soft insoles and, eyes shut). Three variables were considered to assess stability: length of movement of the barycenter (mm), lateral velocity (mm/sg) and anterior velocity (mm/sg). All of them were analysed with the patient in static on the dynamometric platform. The results showed statistically significant differences between the two groups, (amputees and controls) with less stability in the amputee group (p < 0.05) when analysing the variables of length of movement of the barycenter, lateral velocity and anterior velocity. Amputee patients with open eyes exhibited greater stability than those with closed eyes. The hard insoles improved the stability data in amputees (length of movement of the barycenter and anterior velocity) with respect to the barefoot condition, and the soft insoles showed less stability than the patients with hard insoles, or than the barefoot patients. From the results obtained in this study, we can conclude that the PP-DWST 4 mm rigid insoles improve static stability in people with amputation. However, soft insoles impair stability and are therefore discouraged.

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.

Muscle Activation during Gait in Unilateral Transtibial Amputee Patients with Prosthesis: The Influence of the Insole Material Density.

BACKGROUND: Walking is a complex process that is highly automated and efficient. This knowledge is essential for the study of pathological gait. The amputation of lower limbs involves new biomechanical load and gait patterns, and injuries due to overload or disuse may occur. The objective of this study is to assess muscle activation as part of the gait in unilateral transtibial amputee patients with prosthesis, at different speeds and with different plantar supports. METHOD: Included in the sample were 25 people with amputation and 25 control participants. Muscle activation was evaluated in both groups by means of surface electromyography (EMG) under normal and altered conditions. RESULTS: Control participants did not show statistically significant differences (p ˃ 0.05) between their muscle groups, irrespective of support and speed. However, people with amputation did show differences in muscle activity in the quadriceps, all of which occurred at the highest speeds, irrespective of support. In the analysis between groups, significant differences (p < 0.05) were obtained between the leg of the amputee patient and the leg of the control participant, all of them in the quadriceps, and at speeds 3 and 4, regardless of the insole used. CONCLUSIONS: Participants with unilateral transtibial amputation carry out more quadriceps muscle activity during gait compared to the control group.

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

El síndrome de atrapamiento del nervio pudendo es poco conocido y suele confundirse con otros trastornos del suelo pélvico. Se pretende elaborar un algoritmo diagnóstico y terapéutico basado en una revisión de la bibliografía existente. Para su diagnóstico se realizará una anamnesis en busca de posibles etiologías, antecedentes quirúrgicos e historia del dolor valorando localización e irradiación, intensidad en la escala visual analógica, temporalidad, factores desencadenantes y se descartarán siempre signos de alarma. Se realizará exploración física, buscando puntos gatillo o zonas de fibrosis con palpación transvaginal/transrectal de las ramas terminales del nervio. Ante un diagnóstico dudoso se puede llevar a cabo un bloqueo anestésico del nervio pudendo. Confirmado el diagnóstico, se comenzará el tratamiento escalonadamente con cambios en el estilo de vida, terapia farmacológica y fisioterapia. Ante el fracaso de estas medidas se emplearán terapias invasivas como inyección de toxina botulínica, radiofrecuencia pulsada y cirugía de descompresión o estimulación del cono medular. (AU)

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. (AU)

Quality of life, body image and self-esteem in patients with unilateral transtibial amputations.

Amputation represents a drastic impact on the patient's body and perception. This cross-sectional study aims to analyse the aesthetic concern represented by body image, self-esteem and quality of life in patients with unilateral transtibial amputations of lower limbs compared to control group. People living with amputations present lower average levels than controls in all subscales of the SF-36 (Short Form 36 Health Survey) quality of life questionnaire, and in both the physical component summary and the mental component summary, although the difference is not statistically significant in the latter. These patients present a significantly lower mean score (p = 0.002) in the MBSRQ (Body-Self Relations Questionnaire) body image questionnaire: 2.64 ± 0.49 opposed to 3.16 ± 0.55 in controls. People living with amputations had a lower mean score on the Rosenberg Self-Esteem scale than controls (34.44 ± 4.61 v 36.04 ± 3.63). The results also show that amputation has a significant influence on the BI (Body image) of patients with unilateral transtibial amputations. SE (Self-Esteem) seems to be an aspect that is not significantly affected by lower limb amputation, although these patients scored a lower mean on the RSE scale compared to the control group. We consider it is highly relevant to assess QoL (Quality of life), BI and SE in patients after a lower limb amputation process.

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.

Interocular Symmetry of Choroidal Thickness and Volume in Healthy Eyes on Optical Coherence Tomography.

BACKGROUND: We aimed to determine the physiological symmetry, with spectral-domain optical coherence tomography, of choroidal measurements in a healthy population in all the areas defined in the Early Treatment Diabetic Retinopathy Study (ETDRS). METHODS: One hundred and fifty-four eyes of 77 healthy young adults between the ages of 19 and 32 years were enrolled. Differences in choroidal thickness (CT) and volume (CV) between the left and right eyes were calculated. Normal ranges of absolute interocular differences were established as the 95th percentile. RESULTS: The mean ± SD subfoveal CT (SFCT) and total CV values in the right and left eyes were 342.03 ± 77.38 versus 361.64 ± 76.45 µm (correlation coefficient ρ = 0.820; p < 0.001) and 0.27 ± 0.06 versus 0.28 ± 0.06 mm3 (ρ = 0.830; p < 0.001), respectively. Differences in 5 of the 9 areas of the ETDRS map were statistically significant (p < 0.05), but with a strong interocular correlation (ρ > 0.8; p < 0.001). The 95th percentile of interocular tolerance limits for CT in the 1-, 3-, and 6-mm areas were 97, 70, and 57 µm, respectively; the 95th percentile for the volume values were 0.06, 0.51, and 1.73 mm3. CONCLUSIONS: CT and CV are highly correlated between eyes, statistically significant differences between them can be found, and absolute interocular differences may reach 97 µm in SFCT, and 1.73 mm3 in total CV.

Transmission Electron Microscopy as Key Technique for the Characterization of Telocytes.

It was 50 years ago when the details of cellular structure were first observed with an electron microscope (EM). Today, transmission electron microscopy (TEM) still provides the highest resolution detail of cellular ultrastructure. The existence of telocytes (TCs) has been described by Hinescu and Popescu in 2005 and up to now, many studies have been done in different tissues. EM has been fundamental in identification and recognition of TC and relationship between TC and stem cells (SCs) in recent years. We present a review on the importance of TEM to provide major advances in the knowledge of the biology of these cells.

Telocytes and stem cells in limbus and uvea of mouse eye.

The potential of stem cell (SC) therapies for eye diseases is well-recognized. However, the results remain only encouraging as little is known about the mechanisms responsible for eye renewal, regeneration and/or repair. Therefore, it is critical to gain knowledge about the specific tissue environment (niches) where the stem/progenitor cells reside in eye. A new type of interstitial cell-telocyte (TC) (www.telocytes.com) was recently identified by electron microscopy (EM). TCs have very long (tens of micrometres) and thin (below 200 nm) prolongations named telopodes (Tp) that form heterocellular networks in which SCs are embedded. We found TCs by EM and electron tomography in sclera, limbus and uvea of the mouse eye. Furthermore, EM showed that SCs were present in the anterior layer of the iris and limbus. Adhaerens and gap junctions were found to connect TCs within a network in uvea and sclera. Nanocontacts (electron-dense structures) were observed between TCs and other cells: SCs, melanocytes, nerve endings and macrophages. These intercellular 'feet' bridged the intercellular clefts (about 10 nm wide). Moreover, exosomes (extracellular vesicles with a diameter up to 100 nm) were delivered by TCs to other cells of the iris stroma. The ultrastructural nanocontacts of TCs with SCs and the TCs paracrine influence via exosomes in the epithelial and stromal SC niches suggest an important participation of TCs in eye regeneration.

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.