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Diagnostics (Basel, Switzerland) Jun 2024Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms presenting unique challenges in diagnosis and management. Traditional markers such as chromogranin... (Review)
Review
Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms presenting unique challenges in diagnosis and management. Traditional markers such as chromogranin A (CgA), pancreatic polypeptide (PP), and neuron-specific enolase (NSE) have limitations in terms of specificity and sensitivity. Specific circulating markers such as serotonin and its metabolite 5-hydroxyindoleacetic acid (5-HIAA) and various gastrointestinal hormones such as gastrin, glucagon, somatostatin, and vasoactive intestinal peptide (VIP) have a role in identifying functional NENs. Recent advances in molecular and biochemical markers, also accounting for novel genomic and proteomic markers, have significantly improved the landscape for the diagnosis and monitoring of NENs. This review discusses these developments, focusing on both traditional markers such as CgA and NSE, as well as specific hormones like gastrin, insulin, somatostatin, glucagon, and VIP. Additionally, it covers emerging genomic and proteomic markers that are shaping current research. The clinical applicability of these markers is highlighted, and their role in improving diagnostic accuracy, predicting surgical outcomes, and monitoring response to treatment is demonstrated. The review also highlights the need for further research, including validation of these markers in larger studies, development of standardized assays, and integration with imaging techniques. The evolving field of biochemical markers holds promise for improving patient outcomes in the treatment of NENs, although challenges in standardization and validation remain.
PubMed: 38928704
DOI: 10.3390/diagnostics14121289 -
International Journal of Dermatology Jun 2024
PubMed: 38859641
DOI: 10.1111/ijd.17264 -
Dermatology Online Journal Mar 2024Milia en plaque (MEP) is an uncommon skin condition identified as retroauricular confluent milium by Boulzer and Fouqet in 1903 [1]. It can be mistaken for other...
Milia en plaque (MEP) is an uncommon skin condition identified as retroauricular confluent milium by Boulzer and Fouqet in 1903 [1]. It can be mistaken for other dermatoses like Favre-Racouchot nodular elastosis, steatocystoma multiplex, and nevus comedonicus. Milia en plaque can either be primary or secondary and is typically benign, often triggered by dermatological procedures like cryotherapy, as reported in this journal. In some cases, MEP can arise as a secondary manifestation of other diseases, including folliculotropic mycosis fungoides (FMF). Despite this association, there are few documented cases in the literature. Herein, we present a patient in whom MEP served as the initial clinical presentation of FMF; the treatment involved oral retinoids and phototherapy. Furthermore, we highlight distinctive features of both conditions. It is important to emphasize that early diagnosis and treatment of FMF are vital for the patient's quality of life. The presence of MEP can serve as a valuable indicator for identifying it.
Topics: Humans; Mycosis Fungoides; Skin Neoplasms; Shoulder; Male; Middle Aged; Female; Retinoids; Diagnosis, Differential; Keratosis
PubMed: 38762866
DOI: 10.5070/D330163296 -
Cureus Apr 2024Pseudoporphyria is an uncommon dermatosis resembling porphyria cutanea tarda (PCT). The exclusion of true porphyria, especially PCT, is critically essential for...
Pseudoporphyria is an uncommon dermatosis resembling porphyria cutanea tarda (PCT). The exclusion of true porphyria, especially PCT, is critically essential for diagnosing pseudoporphyria. It has an unknown underlying pathophysiology with a normal or near-normal porphyrin profile. Pseudoporphyria has been associated with chronic renal failure and hemodialysis, medications, and tanning beds. In drug-induced pseudoporphyria cases, eliminating the suspected photosensitizing drug improves the disease typically within weeks to months (on average eight weeks). In genetically predisposed individuals, phototoxic metabolites may trigger the development of skin fragility, bullae, milia, and scarring on the dorsum of the hands and other sun-exposed areas. Wearing a broad-spectrum sunscreen and maintaining strict ultraviolet protection is essential in cases of pseudoporphyria. We report the case of a 20-year-old male who presented to us with complaints of photosensitivity and multiple erosions with irregular scars over photo-exposed areas involving the dorsum of the hands and face predominantly. The patient was evaluated further to determine the underlying cause. A wood's lamp examination of the urine was done, which did not show fluorescence. Based on clinical and laboratory findings, the diagnosis of pseudoporphyria was made, and the patient was started on the oral antimalarial agent hydroxychloroquine sulfate with strict sun protection.
PubMed: 38707054
DOI: 10.7759/cureus.57574 -
Cureus Mar 2024Gastrointestinal (GI) tract lipomas are a benign entity of GI tumors. In this case report, we present a 53-year-old patient who was found to have a rectal lipoma...
Gastrointestinal (GI) tract lipomas are a benign entity of GI tumors. In this case report, we present a 53-year-old patient who was found to have a rectal lipoma incidentally in an asymptomatic middle-aged female during a routine colonoscopy screening. The tumor was excised during colonoscopy and sent for histopathology, which confirmed the diagnosis. We also provide a literature review of GI lipomas, focusing on their occurrence in the rectum.
PubMed: 38646407
DOI: 10.7759/cureus.56587 -
The Journal of Dermatology Apr 2024
PubMed: 38641911
DOI: 10.1111/1346-8138.17219 -
American Family Physician Mar 2024Rashes in the newborn period are common and most are benign. Infections should be suspected in newborns with pustules or vesicles, especially in those who are not...
Rashes in the newborn period are common and most are benign. Infections should be suspected in newborns with pustules or vesicles, especially in those who are not well-appearing or have risk factors for congenital infection. Congenital cytomegalovirus infection can cause sensorineural hearing loss and neurodevelopmental delay. Skin manifestations of cytomegalovirus may include petechiae due to thrombocytopenia. The most common skin manifestations of early congenital syphilis are small, copper-red, maculopapular lesions located primarily on the hands and feet that peel and crust over three weeks. Erythema toxicum neonatorum and neonatal pustular melanosis are transient pustular rashes with characteristic appearance and distribution. Neonatal acne is self-limited, whereas infantile acne may benefit from treatment. Milia can be differentiated from neonatal acne by their presence at birth. Cutis marmorata and harlequin color change are transient vascular phenomena resulting from inappropriate or exaggerated dilation of capillaries and venules in response to stimuli.
Topics: Humans; Infant, Newborn; Skin; Exanthema; Blister; Acne Vulgaris; Dermatitis, Exfoliative
PubMed: 38574210
DOI: No ID Found -
Journal of Cancer Research and... Jan 2024Growth factors and cytokines like transforming growth factor beta (TGF-β) play a key role in the pathogenesis of oral submucous fibrosis.
CONTEXT
Growth factors and cytokines like transforming growth factor beta (TGF-β) play a key role in the pathogenesis of oral submucous fibrosis.
AIMS
To elucidate the role of Salivary TGF-β isoforms as a predictive and diagnostic marker for oral submucous fibrosis.
SETTINGS AND DESIGN
A total of 30 OSMF and 10 control patients were included in this study, and their clinic-epidemiological data was recorded.
METHODOLOGY
The expression of TGF-β genes-TGF-β1, TGF-β2, TGF-β3-was studied by a real-time polymerase chain reaction in tissue and saliva. Patients were given medicinal intervention for 12 weeks along with jaw-opening exercises. Expression of salivary TGF-β genes was studied at 12 weeks.
STATISTICAL ANALYSIS USED
SPSS software version 20.
RESULT
Expression of salivary TGF beta isoforms in OSMF was more than in the control group. There was an increase in salivary TGF-β1, β2, β3 expressions with increasing clinical grades of OSMF and advancing the stage of the disease. Expression of all the TGF beta isoforms was decreased after treatment with statistically significant results. Statistically significant correlations were found between the mean difference of TGF-β1 and the mean difference between mouth opening and tongue protrusion.
CONCLUSION
Salivary TGF-β isoforms may be used in diagnosis, risk assessment, and screening of the entire population at risk of OSMF after its clinical validation. However, adequate sample size and segmental assessment of the expression of TGF-β isoforms are needed for further evaluation.
Topics: Humans; Transforming Growth Factor beta; Transforming Growth Factor beta1; Oral Submucous Fibrosis; Transforming Growth Factor beta3; Protein Isoforms
PubMed: 38554333
DOI: 10.4103/jcrt.jcrt_1929_22 -
Injury May 2024Traumatic rib fracture is associated with a high morbidity rate and identifying patients at risk of developing pulmonary complications (PC) can guide management and...
BACKGROUND
Traumatic rib fracture is associated with a high morbidity rate and identifying patients at risk of developing pulmonary complications (PC) can guide management and potentially decrease unnecessary intensive care admissions. Therefore, we sought to assess and compare the utility of a physiologic parameter, vital capacity (VC), with the admission radiologic findings (RibScore) in predicting PC in patients with rib fractures.
METHODS
This is a single-center retrospective review (2015-2018) of all adult (≥18 years) patients admitted to a Level I trauma center with traumatic rib fracture. Exclusion criteria included no CT scan and absence of VC within 48 h of admission. The cohort was stratified into two groups based on presence or absence of PC (pneumonia, unplanned intubation, unplanned transfer to the intensive care unit for a respiratory concern, or the need for a tracheostomy). Multivariable logistic regression models were constructed to identify predictors of PC.
RESULTS
A total of 654 patients met the inclusion criteria of whom 70 % were males. The median age was 51 years and fall (48 %) was the most common type of injury. A total of 36 patients (5.5 %) developed a pulmonary complication. These patients were more likely to be older, had a higher ISS, and were more likely to require a tube thoracostomy placement. On multivariable logistic regression, first VC ≤30 % (AOR: 4.29), day 1 VC ≤30 % (AOR: 3.61), day 2 VC ≤30 % (AOR: 5.54), Δ(Day2-Day1 VC) (AOR: 0.96), and RibScore ≥2 (AOR: 3.19) were significantly associated with PC. On discrimination analysis, day 2 VC had the highest area under the receiver operating characteristic curve (AuROC), 0.81, and was superior to first VC and day 1 VC in predicting PC. There was no statistically significant difference in predicting PC between day 2 VC and RibScore. On multivariable analysis, first VC ≤30 %, day 1 VC ≤30 %, day 2 VC ≤30 %, and admission RibScore ≥2 were associated with prolonged hospital and ICU LOS.
CONCLUSION
VC and RibScore emerged as independent predictors of PC. However, VC was not found to be superior to RibScore in predicting PC. Further prospective research is warranted to validate the findings of this study.
Topics: Male; Adult; Humans; Middle Aged; Female; Rib Fractures; Pneumonia; Hospitalization; Wounds, Nonpenetrating; ROC Curve; Retrospective Studies
PubMed: 38521636
DOI: 10.1016/j.injury.2024.111508 -
Journal of Chemical Information and... Apr 2024Exploring the global energy landscape of relatively large molecules at the quantum level is a challenging problem. In this work, we report the coupling of a nonredundant...
Exploring the global energy landscape of relatively large molecules at the quantum level is a challenging problem. In this work, we report the coupling of a nonredundant conformational space exploration method, namely, the robotics-inspired iterative global exploration and local optimization (IGLOO) algorithm, with the quantum-chemical density functional tight binding (DFTB) potential. The application of this fast and efficient computational approach to three close-sized molecules of the phthalate family (DBP, BBP, and DEHP) showed that they present different conformational landscapes. These differences have been rationalized by making use of descriptors based on distances and dihedral angles. Coulomb interactions, steric hindrance, and dispersive interactions have been found to drive the geometric properties. A strong correlation has been evidenced between the two dihedral angles describing the side-chain orientation of the phthalate molecules. Our approach identifies low-energy minima without prior knowledge of the potential energy surface, paving the way for future investigations into transition paths and states.
Topics: Phthalic Acids; Algorithms; Molecular Conformation; Thermodynamics; Stochastic Processes; Density Functional Theory; Models, Molecular
PubMed: 38497727
DOI: 10.1021/acs.jcim.3c01981