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Laura Bujoreanu Bezman,1,2 Carmen Tiutiuca,1,3 Geanina Totolici,1,3 Nicoleta Carneciu,1,2 Florin Ciprian Bujoreanu,4 Diana Andreea Ciortea,5,6 Elena Niculet,2,4 Ana Fulga,3,4 Anamaria Madalina Alexandru,4,7 Daniela Jicman Stan,4 Aurel Nechita5,6 1Department of Ophthalmology, “Sfantul Apostol Andrei” Emergency Clinical Hospital, Galati, Romania; 2Department of Morphological and Functional Sciences, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, Romania; 3Clinical Surgical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, Romania; 4Doctoral School of Biomedical Sciences, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, Romania; 5Department of Pediatrics, “Sfantul Ioan” Emergency Clinical Hospital for Children, Galati, Romania; 6Clinical Medical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, Romania; 7Department of Neonatology, “Sfantul Apostol Andrei” Emergency Clinical Hospital, Galati, RomaniaCorrespondence: Carmen Tiutiuca, Clinical Surgical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, 800008, Romania, Tel +40741330788, Email tiutiuca_carmen@yahoo.com Florin Ciprian Bujoreanu, Doctoral School of Biomedical Sciences, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University, Galati, 800008, Romania, Tel +40741395844, Email florin.bujoreanu@gmail.comAbstract: Retinopathy of prematurity (ROP) is a vasoproliferative disorder with an imminent risk of blindness, in cases where early diagnosis and treatment are not performed. The doctors’ constant motivation to give these fragile beings a chance at life with optimal visual acuity has never stopped, since Terry first described this condition. Thus, throughout time, several specific advancements have been made in the management of ROP. Apart from the most known risk factors, this narrative review brings to light the latest research about new potential risk factors, such as: proteinuria, insulin-like growth factor 1 (IGF-1) and blood transfusions. Digital imaging has revolutionized the management of retinal pathologies, and it is more and more used in identifying and staging ROP, particularly in the disadvantaged regions by the means of telescreening. Moreover, optical coherence tomography (OCT) and automated diagnostic tools based on deep learning offer new perspectives on the ROP diagnosis. The new therapeutical trend based on the use of anti-VEGF agents is increasingly used in the treatment of ROP patients, and recent research sustains the theory according to which these agents do not interfere with the neurodevelopment of premature babies.Keywords: retinopathy of prematurity, risk factors, optical coherence tomography, telescreening, artificial intelligence, anti-VEGF

Pediatric patients with polyuria polydipsia syndrome (PPS) represent a diagnostic challenge for clinicians because of the technical difficulties in performing the gold standard water deprivation test (WDT). Copeptin, a stable biomarker representing the C-terminal portion of the polypeptide chain of the antidiuretic hormone, is a reliable diagnostic tool. To assess the diagnostic accuracy of baseline copeptin dosing, arginine/hypertonic saline copeptin stimulation tests, and WDT. This study aimed to establish the diagnostic utility of copeptin in pediatric patients by distinguishing between central diabetes insipidus, nephrogenic diabetes insipidus, and primary polydipsia. Comparative and non-comparative primary studies published between January 2018 and August 2024 focusing on children were searched and included in PubMed, Cochrane Library, Web of Science, ScienceDirect, Scopus, and Google Scholar. The QUADAS-2 tool was used to assess the risk of bias and applicability. Meta-analyses used fixed effects models because of low heterogeneity and the HSROC model. Eleven studies were included with an overall low bias and no significant applicability concerns. The mean pooled sensitivity = 0.98 (95% CI: 0.936-1.025), pooled specificity = 0.947 (95% CI: 0.920-0.973), and AUC = 0.972 (95% CI: 0.952-0.992), indicating excellent diagnostic accuracy. Stimulation methods for copeptin dosing represent an effective and less invasive diagnostic test for children with PPS, and future development of standard copeptin testing protocols is needed.

Background: medical teams continue to face challenges with infections following hip replacement surgery, whether they occur shortly after the procedure or months or years later. Certain medical conditions like diabetes, rheumatoid arthritis, and obesity are risk factors that make patients more susceptible to infections. Traditional intervention methods such as DAIR, one-step, or two-step procedures are being enhanced and refined to ensure quicker and more effective treatment. Some cases present particularly difficult challenges, featuring persistent fistulas and unpredictable responses to treatment., Methods: in our article, we share two unique cases, detailing their histories, progressions, and treatment decisions. We explore the use of antibiotic-impregnated calcium biocomposite as a local adjuvant therapy and the application of negative pressure therapy to expedite healing. The system of NWPT has seen widespread uptake and is now implemented routinely for open wounds, such as open fractures, fasciotomies, ulcers, and infected wounds., Results: our findings demonstrate that surgical debridement and calcium sulfate bead insertion successfully treat bone and joint infections without causing any side effects or complications. As a particularity, in the first case, we encountered the exteriorization of Stimulan pearls after surgery, without other complications related to the biocomposite., Conclusions: we have found that NPWT is a beneficial tool in managing complex wounds in both acute and chronic stages, after the infection is cured, reducing the need for frequent dressing changes, shortening hospital stays, and enhancing patient comfort.

Background: Given the increasing rate of infections following hip arthroplasty, one of the current options is the application of a biocomposite at the site of the infection. One of the products used is Stimulan, a completely resorbable calcium sulfate, designed to treat acute and chronic infections. This biocomposite has a controlled purity, is easy to mix with liquid, powder, and antibiotics, and can be applied directly to the site of infection, or it can be injected. Methods: We analyzed data from 76 patients, who were admitted to the County Clinical Hospital of Emergency "St. Apostol Andrei" in Galati during January 2017-September 2023, with a diagnosis of infection associated with hip arthroplasty. Results: In 69.73% of cases (52 patients), we decided to keep the implant in place. In this subgroup, Stimulan was applied in 26 cases (57.78%). Of these, 100% were cured-compared to the subgroup in which Stimulan was not applied, where this percentage was lower. All patients underwent chemical and mechanical toileting, and for 24 patients (20.27%), it was necessary to ablate the implant with or without the application of Stimulan, then reimplantation of the prosthesis. Conclusions: The patients with Stimulan had a longer average length of hospitalization, almost half of them required intervention in two periods, and a quarter required the implantation of spacers. However, the cure rate was higher, only in three people could we not control the infection, and there was no death. This study confirms the effectiveness of the treatment when using a biocomposite in addition to the classical treatment for both acute and chronic cases.

Basal cell carcinoma (BCC) is a malignant tumor with a rising incidence and is the beneficiary of several innovative evaluation techniques. Histopathology remains the gold standard for assessment, having the possibility of addressing multiple high-risk factors such as perineural invasion (PNI). The current study included a number of 244 BCC patients and targeted the identification of positive PNI and its suggestive signs, and whether they correlated or not with other high-risk tumor signs. PNI was found in 20.1% of patients, with 30.7% of patients having perineural chronic inflammation (PCI), which is a suggestive sign of PNI. PNI was also found in larger tumors, with deeper Clark levels, in high-risk BCCs and high-grade tumors. PNI and PCI are both important for pathology reporting, aiding in treatment choice and further patient management, with possibly positive outcomes concerning morbidity and mortality.

Nasopharyngeal carcinoma (NPC) is an epithelial tumor, which develops most frequently from the lateral pharyngeal recess and holds some complex epidemiological characteristics. Its unusual race and geographic distribution suggests that not only the environmental factors are a contributing factor to the development of this rare cancer type, but also the genetic traits play an important role, along with nitrosamine-containing food consumption and Epstein-Barr virus infection. The signs and symptoms which a patient can present and suffer from are various and include nasal, otic, neurological as well as general ones; the way this tumor manifests being dependent on the stage of the tumor. The therapeutic management applicable in NPC needs to be established according to the case of the patient and include radiotherapy, chemotherapy, surgery, immune therapy, targeted therapy or combined treatment. The main objective of the treatment is local and regional tumor control; relapse is an important factor for future development of distant metastases. New therapeutic concepts are always sought of, current research focusing on precision medicine, meaning systemic treatment with a personalized radiotherapy approach according to the characteristics of the tumor., Competing Interests: The authors declare they have no competing interests., (Copyright: © Jicman (Stan) et al.)

Psoriasis is a systemic inflammatory cutaneous disease that affects approximately 2% of the world's population. Systemic treatments and biologic treatment therapies are a powerful option for patients with moderate to severe psoriasis. Some studies from the literature indicate an overall small, but increased, risk of neoplasia in patients with psoriasis treated with phototherapy or systemic medication. The relationship between psoriasis and malignancy is not very well established; there are few studies with conflicting results. We present the case of a 31-year-old male patient, diagnosed with psoriasis, who was deemed eligible for systemic therapy. Treatment with methotrexate was initiated, but without a satisfactory outcome. Given the patient's resistant disease involving 15% of his body surface, his desire to have a clear skin, besides his being naïve to biologic therapy, he was proposed to start treatment with secukinumab 300 mg monthly. The patient experienced complete clearance of lesions and was followed-up on the basis of clinical and biological parameters. There are limited data concerning the relationship between melanocytic lesions, psoriasis and melanoma. Immunologic pathways implicated in psoriasis induce a reduction in the number of melanocytic nevi. Nevertheless, little is known concerning the association of melanocytic nevi with psoriasis. Thorough skin examination, meaning clinical and dermoscopic evaluation of melanocytic lesions, must be encouraged in patients treated with systemic therapies such as biologic agents., Competing Interests: The authors declare that they have no competing interests., (Copyright: © Bujoreanu et al.)

Obesity is a global public health issue. Although the etiology of this global epidemic is multifactorial, most sufferers would be delighted to find a relatively effortless way to lose weight. Herbal "weight loss pills" can fit the bill. The authors systematically review the scientific evidence concerning various weight loss agents that are available over the counter or in food stores. The review provides a starting point to make informed choices among nutraceutical agents promoted for weight loss, as well as advice for incorporating healthy alternatives in the diet.

X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. Males with X-ALD may be diagnosed by the demonstration of elevated very long chain fatty acid (VLCFA) levels in plasma. In contrast, only 80% of female carriers have elevated plasma VLCFA; therefore targeted mutation analysis is the most effective means for carrier detection. Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4.1% for this group. In addition, we identified 10 cases in which a de novo mutation arose in the mother or the grandmother of the index case. In two of these cases studies indicated that the mothers were low level gonosomal mosaics. In a third case biochemical, molecular and pedigree analysis indicated the mother was a gonadal mosaic. To the best of our knowledge mosaicism has not been previously reported in X-ALD. In addition, we identified one pedigree in which the maternal grandfather was mosaic for the familial ABCD1 mutation. Less than 1% of our patient population had evidence of gonadal or gonosomal mosaicism, suggesting it is a rare occurrence for this gene and its associated disorders. However, the residual maternal risk for having additional ovum carrying the mutant allele identified in an index case that appears to have a de novo mutation is at least 13%., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Background: An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination., Objective: To analyze the adult pattern of disease progression in X-ALD., Design, Setting, and Patients: We retrospectively assessed magnetic resonance (MR) images obtained in adult patients who had developed cerebral disease between January 1, 1985, and December 31, 2005. We identified 103 adult patients with X-ALD with lesions on their MR images. Of these, 56 had serial MR examinations at least 1 year apart and were included in this study. Main Outcome Measure Progression of X-ALD lesions on MR images., Results: On initial presentation, 17 patients with X-ALD had corticospinal tract lesions without splenium or genu involvement, 24 had symmetric corticospinal tract lesions with additional involvement of the splenium or genu, and 15 did not have corticospinal tract involvement but had other white matter lesions. In 18 of 21 patients with progressive lesions, corticospinal tract involvement preceded or occurred concurrently with progressive inflammatory demyelination., Conclusions: Brain MR imaging abnormalities in adults with X-ALD progress slower than those reported in childhood. The involvement of the corticospinal tracts is prominent and may at times represent a variant course of progressive inflammatory demyelination.

Objectives: To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression., Method: Eighty-nine boys (mean +/- SD baseline age, 4.7 +/- 4.1 years; range, 0.2-15 years) were identified by a plasma very long-chain fatty acids assay used to screen at-risk boys. All were treated with Lorenzo's oil and moderate fat restriction. Plasma fatty acids and clinical status were followed for 6.9 +/- 2.7 years. Changes in plasma hexacosanoic acid levels were assessed by measuring the length-adjusted area under the curve, and a proportional hazards model was used to evaluate association with the development of abnormal MRI results and neurological abnormalities., Results: Of the 89 boys, 24% developed MRI abnormalities and 11% developed both neurological and MRI abnormalities. Abnormalities occurred only in the 64 patients who were aged 7 years or younger at the time therapy was started. There was significant association between the development of MRI abnormalities and a plasma hexacosanoic acid increase. (For a 0.1-microg/mL increase in the length-adjusted area under the curve for the hexacosanoic acid level, the hazard ratio for incident MRI abnormalities in the whole group was 1.36; P = .01; 95% confidence interval, 1.07-1.72.) Results for patients aged 7 years or younger were similar (P = .04)., Conclusions: In this single-arm study, hexacosanoic acid reduction by Lorenzo's oil was associated with reduced risk of developing MRI abnormalities. We recommend Lorenzo's oil therapy in asymptomatic boys with X-linked adrenoleukodystophy who have normal brain MRI results.

Objective: Plasma assay for very long-chain fatty acids has made it possible to perform large-scale screening of at-risk individuals to identify asymptomatic patients with X-linked adrenoleukodystrophy (X-ALD). We evaluated the burden of undiagnosed adrenal insufficiency in 49 such patients (age, 4.5 +/- 3.5 years)., Study Design: Serum adrenocorticotropic hormone (ACTH) and standard-dose ACTH stimulation test were performed at the baseline and followed prospectively until initiation of adrenal replacement therapy (follow-up, 2 +/- 1.7 years)., Results: At baseline, 39 (80%) patients had impaired adrenal function, serum ACTH levels were elevated in 34 (69%) patients, and ACTH stimulation test was abnormal in 21(43%) patients. There was a moderate association between Serum ACTH and age at baseline, ( r = 0.32, P = .05). By the end of follow-up, 86% of patients had borderline or overt adrenal insufficiency (age of onset, 4.8 +/- 3.7 years)., Conclusions: We detected a high prevalence of unrecognized adrenocortical insufficiency in asymptomatic boys with X-ALD. It is known to be a frequent cause of morbidity and can be prevented by careful monitoring, early identification of impaired adrenal reserve, and timely initiation of therapy. It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening.

We analyzed the sera of 51 patients with various phenotypes of X-linked adrenoleukodystrophy (X-ALD), 20 patients with multiple sclerosis (MS) and 22 healthy volunteers for the presence of autoantibodies specific for the recombinant extracellular immunoglobulin-like domain of human myelin oligodendrocyte glycoprotein (rhMOG(Igd)) and myelin basic protein (MBP). Anti-rhMOG(Igd) autoantibodies were significantly more frequent in X-ALD and MS patients as opposed to healthy individuals (p<0.05). Anti-MBP autoantibodies were present in about one-fourth of X-ALD and MS patients but in less than 10% of healthy individuals. Anti-rhMOG(Igd) autoantibody responses were not accompanied by increased T cell reactivity against rhMOG(Igd). These findings may have important implications for the understanding of humoral anti-myelin immunoreactivity in demyelinating diseases of the central nervous system such as X-ALD and MS.

Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998. The minimum frequency of hemizygotes identified in the United States is estimated to be 1:42,000 and that of hemizygotes plus heterozygotes 1:16,800. Our studies involved 616 pedigrees with a total of 12,787 identified at-risk members. Diagnostic assays were performed in 4,169 at-risk persons (33%) and included members of the extended family. Only 5% of male probands and 1.7% of X-ALD hemizygotes were found to have new mutations. The extended family testing led to the identification of 594 hemizygotes and 1,270 heterozygotes. Two hundred fifty of the newly identified hemizygotes were asymptomatic and represent the group in which therapy has the greatest chance of success. Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family.

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. The childhood form of the disease is typically heralded by subtle neurocognitive changes which later progress. Acute presentation of childhood ALD has been reported, but the incidence is not known. We reviewed the records of 485 boys with childhood ALD, determined those with acute presentation, and classified them as adrenal crisis, seizures, or encephalopathy. Of the 485 reviewed cases, 45 (9.3%) presented acutely at an average age of 5.5 years. Twenty of 45 (44%) presented with seizures, focal seizures in 6 boys and generalized in the remainder with 4 having status epilepticus. Twenty out of 45 presented with acute adrenal crisis. Five of 45 presented with acute encephalopathy or coma. The diagnosis of ALD was rarely made in the acute period, but was often suggested by neuroimaging. The accurate, rapid diagnosis of ALD has important implications for treatment as well as for other family members and should be considered in appropriate patients.

The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from less than 3 years to adulthood, who have been followed at the Kennedy Krieger Institute. With the aim of determining whether a method could be developed to predict clinical course by analysis of data available at time of first contact, the patients were subdivided into 18 subgroups on the basis of age and the extent of brain magnetic resonance (MRI) abnormality utilizing the MRI scoring system devised by Loes et al. Scores to grade degree of neurologic and neuropsychologic impairment were also developed. There was strong correlation between MRI and the neurology and neuropsychology scores at baseline. Information based exclusively on age and MRI score at time of first contact was highly predictive of future clinical course and should aid the evaluation of the effects of bone marrow transplantation and the selection of patients for this procedure, as well as the evaluation of other therapies that may be developed in the future.

The pathogenesis of central nervous system (CNS) disease in acquired immunodeficiency syndrome (AIDS) is poorly understood but may be related to specific effects of the immune system. Cytokines such as tumor necrosis factor and interleukin-1 may have toxic effects on CNS cells and have been postulated to contribute to the pathogenesis of the neurological complications of human immunodeficiency virus (HIV) infection. To characterize viral and immunological activity in the CNS, frozen specimens taken at autopsy from the cerebral cortex and white matter of HIV-seropositive and -seronegative individuals were stained immunocytochemically for mononuclear cells, major histocompatibility complex (MHC) antigens, HIV, astrocytes, and the cytokines interleukin-1 and -6, tumor necrosis factor-alpha and -beta, and interferon gamma. Levels of soluble CD4, CD8, and interleukin-2 receptor, as well as interferon gamma, tumor necrosis factor-alpha, beta 2-microglobulin, neopterin, and interleukin-6 and -1 beta were assayed in the cerebrospinal fluid and plasma of many of these individuals during life. The HIV-seropositive group included individuals without neurological disease, those with CNS opportunistic infections, and those with HIV encephalopathy. Perivascular cells, consisting primarily of macrophages with some CD4+ and CD8+ T cells and rare B cells, were consistently MHC class II positive. MHC class II antigen was also present on microglial cells, which were frequently positive for tumor necrosis factor-alpha. HIV p24 antigen, when present, was found on macrophages and microglia. Endothelial cells were frequently positive for interleukin-1 and interferon gamma and less frequently for tumor necrosis factor and interleukin-6. There were gliosis and significant increases in MHC class II antigen, interleukin-1, and tumor necrosis factor-alpha in HIV-positive patients compared to HIV-negative brains. Cerebrospinal fluid from most of the patients tested had increased levels of tumor necrosis factor, beta 2-microglobulin, and neopterin. There was no correlation in HIV-positive individuals between levels of cytokines and the presence or absence of CNS disease. These data indicate that there is a relative state of "immune activation" in the brains of HIV-positive compared to HIV-negative individuals, and suggest a potential role for the immune system in the pathogenesis of HIV encephalopathy.