Dear Editor,I read with great interest the original article entitled “An Evaluation of the AST/ALT Ratio in Patients with Mycosis Fungoides and Its Association with the Severity of Cutaneous Involvement” by Pala and Bayraktar, published in the January 2025 issue of your journal (1). I would like to congratulate the authors for addressing a novel and clinically relevant topic in the field of cutaneous T-cell lymphomas.From a pathologist’s perspective, mycosis fungoides (MF) is a biologically heterogeneous malignancy with a highly variable clinical course. Although histopathological evaluation remains the gold standard for diagnosis and classification, it provides limited information regarding systemic disease activity, cumulative tumor burden, and metabolic alterations during longitudinal follow-up (2, 3). Therefore, there is a clear need for adjunctive, easily accessible biomarkers that may complement morphological and clinical assessment.In this context, the authors’ focus on the AST/ALT (De Ritis) ratio is particularly noteworthy. Aspartate aminotransferase (AST) differs fundamentally from alanine aminotransferase (ALT) in that it reflects not only hepatocellular integrity but also mitochondrial function and systemic cellular metabolism, which form the biological basis of the De Ritis ratio (4). In malignant cells, increased mitochondrial activity and aerobic glycolysis are essential to sustain cellular proliferation and tumor progression, processes in which AST plays a key metabolic role (5). Accordingly, elevated AST levels and AST/ALT ratios may reflect increased neoplastic cell turnover rather than isolated liver involvement.The finding that AST levels and AST/ALT ratios were significantly higher in MF patients compared with healthy controls is therefore biologically plausible. From a pathological standpoint, the association between elevated AST levels and abnormal lymphadenopathy detected by ultrasonography and PET/CT is of particular interest. Even in the absence of overt visceral involvement, such findings may indicate subclinical extracutaneous disease activity or increased metabolic turnover within involved lymphoid tissue, which cannot be fully appreciated by histopathology alone.
The female breast is a multifaceted anatomical and symbolic structure that has attracted interest across anthropology, art, and medicine throughout history. The concept of the “ideal breast” remains subjective and shaped by temporal, cultural, and individual factors. In both aesthetic and reconstructive breast surgery, it is essential to acknowledge that patients and surgeons may hold differing expectations. Furthermore, the natural asymmetry of the human body challenges the notion of perfect symmetry, shifting the surgical goal towards achieving optimal similarity rather than absolute equality. From a morphological perspective, breast shape is evaluated in relation to the chest wall and spine, with ideal proportions frequently defined as a 45/55 distribution between the upper and lower poles. Nipple-areola complex positioning and size ratios are also critical to aesthetic outcomes. In terms of volume, excessively small and large breasts can disrupt body harmony and impact self-perception and social interaction. Surgical planning should therefore be tailored to align patient expectations with anatomical feasibility. Beyond anatomical considerations, the breast holds profound psychosocial significance, contributing to perceptions of femininity, sexuality, and identity. Mastectomy, particularly when not accompanied by reconstruction, can trigger deep psychological distress. Regardless of age or cultural background, each woman’s relationship with her breasts is deeply personal and must be respected. The surgeon’s role extends beyond technical expertise to include empathy and shared decision-making, ensuring that the patient is fully informed and empowered in choosing the most suitable reconstructive option.
Objective: This study aimed to investigate the individual and combined effects of retinoic acid (RA) and selenium (Se) on cell viability in SH-SY5Y neuroblastoma cells, with a focus on dose-and time-dependent responses. Materials and Methods: SH-SY5Y cells were treated with varying concentrations of RA (1, 10, or 100 & micro;M) and Se (1, 10, or 100 & micro;M), either alone or in combination. Cell viability was assessed using the trypan blue exclusion assay at 48 and 72 hours. Statistical analyses were performed using one-way or two-way ANOVA followed by Dunnett's post hoc test, as appropriate. Results: Retinoic acid significantly reduced cell viability in a dose-dependent manner at both time points, with 100 & micro;M RA causing near-complete loss of viable cells. Sele-nium also decreased viability, but its effect was milder and became significant only at higher concentrations. Notably, the combined application of RA and Se produced a substantially stronger cytotoxic effect than either agent alone, indicating a potential synergistic or additive interaction between the two. Conclusion: These findings indicate that the simultaneous application of RA and Se can elicit a stronger cytotoxic effect in SH-SY5Y cells than either treatment alone. The results highlight the importance of redox modulation and combination strategies in neuroblastoma cell models. Further studies are warranted to elucidate the underlying mechanisms and therapeutic potential of RA and Se co-treatment.
Lyme borreliosis is the most prevalent tick-borne malady in the Northern Hemisphere, with erythema migrans (EM) serving as the signature of early localized disease. We describe the case of a middle-aged woman who exhibited a typical expanding EM lesion after a confirmed tick bite. Laboratory investigations, including complete blood count and inflammatory markers, were within normal limits, and Borrelia burgdorferi IgM and IgG serology were negative. Despite the absence of serological confirmation, the typical clinical presentation supported a diagnosis of seronegative early Lyme borreliosis. Empirical doxycycline therapy was initiated promptly based on clinical findings. The patient showed complete resolution of the skin lesion within 15 days and did not develop any systemic manifestations during follow-up. This case underscores the limited sensitivity of serological testing in early Lyme disease and highlights the importance of recognizing EM as a clinical diagnosis requiring immediate treatment without delay for laboratory confirmation.
Objective: This study aimed to evaluate the volumes of thalamic subnuclei known to function in large-scale cognitive networks between progressive mild cognitive impairment (pMCI) and stable MCI (sMCI) groups progressing to dementia. Materials and Methods: Magnetic resonance imaging and clinical data of 31 pMCI (Age: 68.66 +/- 6.86; education: 15.71 +/- 2.46; gender: 15 female) and 31 sMCI (Age: 70.18 +/- 7.24; education: 16.23 +/- 2.68; gender: 13 female) patients with no statistically significant differences in age, gender, education, and follow-up interval (mean 21 months) from the Alzheimer's Disease Neuroimaging Initiative database were used. FreeSurfer software was used for individual thalamus segmentation and volume calculation. Thalamic nuclei were divided into anterior, medial, posterior, lateral, ventral, and intralaminar nucleus groups. The volumes of each nucleus were normalised using intracranial volume. Normalised volumes were compared between groups using independent samples t-test, and false discovery rate (FDR) correction was applied. Correlation analysis was performed using florbetapir (AV45) PET scores to evaluate the relationship between amyloid burden in the brain and volumetric decrease. Results: Statistically significant volumetric decreases were detected in the bilateral anterior (Right: t=2.432 pFDR=0.048; Left: t=2.327 pFDR=0.048) and lateral (t=2.372 pFDR=0.048) nucleus groups in pMCI compared to sMCI. A negative correlation was found between PET scores and bilateral anterior nucleus groups (Right: r=-0.353 p=0.026, left: r=-0.350 p=0.026). Conclusion: In our study, the anterior thalamic nucleus group, closely associated with memory, showed reduced volume in MCI patients who progressed to dementia, and this reduction correlated with amyloid burden in the brain. Based on the findings of our study, the anterior thalamic nucleus group may provide supportive value to other MRI biomarkers in predicting conversion to dementia.
Objective: To retrospectively evaluate the use of soft-tissue free-flap reconstruction for midfacial defects, focusing on derect characteristics, flap selection, recipient vessels, postoperative complications, and functional outcomes. Materials and Methods: A retrospective analysis was conducted on patients who received free-flap reconstruction for midfacial defects from 2021 to 2023. Demographic data, defect classifications, flap selections, recipient vessels, complications, and post-operative outcomes were examined. Results: Fasciocutaneous flaps, primarily anterolateral thigh (ALT) and latissimus dorsi (LD) flaps, were used in all cases. The fatial artery and internal jugular veins were the most commonly used recipient systems for microsurgical anastomosis. Complications occurred in 36.4% of patients, including one flap loss and manageable postoperative events. Functional restoration included effective dead space obliteration, basal orbital support, oral-nasal separation, swallowing, speech preservation, and oral compe-tence. Patients receiving adjuvant therapy had higher complication rates. Conclusions: Fasciocutaneous free flaps offer a dependable and efficient reconstruc-tive solution for midfacial defects, poviding adequate functional and aesthetic outcomes with minimal morbidity. They represent a viable alternative to bone flaps in selected cases, especially where oncologic safety and margin concerns predominate. Large prospective studies are warranted to further define indications and long-term outcomes.
Bronchobiliary fistula (BBF) is a rare pathological communication between the biliary and bronchial trees. It most frequently arises as a secondary complication of hepatic hydatid disease, trauma, or hepatobiliary surgery. Among these, ruptured or inadequately treated hepatic hydatid cysts are the most common. Diagnosis remains clinically challenging due to the nonspecificity of symptoms and their overlap with pulmonary infections. We present the case of a 34-year-old man with a history of hepatic hydatid cyst treated via deroofing surgery, complicated by postoperative bile leak. Eight months later, the patient developed progressive bilioptysis, a productive cough, and respiratory distress. Computed tomography revealed a right-sided pleural effusion, collapsed lower lobe, and a hepatic cystic lesion with a fistulous tract crossing the diaphragm. The diagnosis was confirmed using bronchoscopy and endoscopic retrograde cholangiopancreatography (ERCP). The patient was successfully managed with endoscopic biliary sphincterotomy and repeated plastic stent placement. Significant clinical improvement was observed, with complete resolution of bilioptysis and no further complications on follow-up. BBF is an uncommon but serious complication of hepatic hydatid disease and prior hepatobiliary surgery. A high clinical suspicion, timely imaging, and endoscopic evaluation are crucial for diagnosis. ERCP with biliary stenting and sphincterotomy is a safe and effective non-surgical treatment modality, especially in stable patients, offering excellent clinical outcomes and avoiding the morbidity associated with open surgical interventions.
Objective: This study aimed to evaluate the safety of percutaneous nephrolithotomy (PNL) following normalization of procalcitonin (PCT) levels in kidney stone patients with recurrent urinary tract infections (rUTIs) and assess the diagnostic performance of PCT in predicting postoperative infective complications. Materials and Methods: A prospective cohort study was conducted between January 2020 and December 2024, including 29 kidney stone patients with a history of rUTI and persistent infection despite multiple antibiotic regimens. PNL was performed after normalization of serum PCT levels (<0.25 ng/mL). PCT levels were measured preoperatively and on postoperative day 1. The primary endpoint was the development of postoperative infective complications (composite of fever >38.5 degrees C, PCT >2.0 ng/ mL with clinical signs of infection, or positive blood culture); secondary endpoints included overall complication rate, stone-free rate, and length of hospital stay. The diagnostic performance of PCT was evaluated using ROC curve analysis. Results: The mean age was 48.1 +/- 14.4 years, with 51.7% male patients. The average stone size was 31.1 +/- 14.1 mm. extendedspectrum betalactamase (ESBL)-producing E. coli was the most common preoperative pathogen (72.4%). Preoperative PCT median value was 0.06 ng/mL (range 0.01-0.24), with all patients within normal limits. All patients underwent successful PNL (mean operative time: 78.5 +/- 15.2 minutes). Postoperatively, infectious complications occurred in 3 patients (10.3%), with no cases of sepsis or septic shock. ROC analysis revealed an AUC of 0.887 (95% CI: 0.743-1.000, p=0.032), with an optimal cut-off value of 1.5 ng/mL (sensitivity: 100%, specificity: 89.3%). The stone-free rate was 55.2%, and the mean hospital stay was 2.7 +/- 1.04 days. Conclusion: PNL guided by PCT is a safe and effective treatment in patients with rUTI. PCT is a valuable biomarker for predicting postoperative infections and supporting surgical decision-making in high-risk patients.
Proton pump inhibitors (PPIs) are widely prescribed for the management of peptic diseases, including gastroesophageal reflux (GER) and gastric ulcers. The risk profile of PPIs is acceptable, and hypersensitivity reactions to PPIs are extremely rare. We present a case in which type I hypersensitivity reactions to all PPIs were confirmed. A 43-year-old woman was admitted to our inpatient clinic with a history of anaphylactic reactions to both pantoprazole and omeprazole. Allergy work-up revealed an IgE-mediated hypersensitivity to all proton pump inhibitors. H2 receptor antagonist famotidine was considered safe after negative results on both the skin prick test (SPT) and oral provocation test (OPT) .
Objective: Vein of Galen aneurysmal malformations (VGAM) are rare congenital vas cular anomalies with challenging management, especially in neonates with severe hemodynamic compromise. This study evaluated outcomes of neonatal VGAM treated with endovascular embolization at a single center. Materials and Methods: We retrospectively analysed 14 patients diagnosed antena tally or symptomatic within 28 days, managed between 2005 and 2025. Data included demographics, clinical and cardiac status, imaging, Bic & ecirc;tre scores, treatment, and outcomes. Per protocol, embolization followed cardiopulmonary stabilization and could occur beyond the neonatal period. Results: Of the 14 neonates, 12 (85.7%) underwent embolization, while two (14.3%) died before intervention due to poor general condition. The mean gestational age was 38.8 +/- 1.0 weeks, and the mean birth weight was 3,283 +/- 292 g. The majority of the cases (66.7%) were classified as mixed type VGAM. The mean Bic & ecirc;tre score was 11.0 +/- 3.9. Embolization was performed at a mean of 176 +/- 149 postnatal days, requiring an average of2.1 sessions per patient. Pulmonary hypertension and cardiomegalywere the most frequent cardiac findings (75% and 58.3%, respectively). The embolic agents included were n butyl cyanoacrylate (NBCA) and ethylene vinyl alcohol copolymer (EVA). The mortality rate among embolized patients was 33.3%. Survivors exhibited normal neurodevelopment in 75% of the cases. Conclusion: Endovascular embolization is a viable strategy for VGAM cases presenting the neonatal period, although mortality remains substantial in patients with severe cardiac compromise. Early diagnosis, multidisciplinary management, and longterm followup are essential for optimizing survival and neurological outcomes.
Objective: Although obesity is a well-established risk factor for coronary artery disease (CAD), several recent studies have paradoxically demonstrated lower cardiovascular mortality rates among obese individuals. This study aimed to compare the extent of CAD between obese and non-obese diabetic patients and evaluate the presence of the obesity paradox in this population. Materials and Methods: A total of 1,557 patients who underwent coronary angiography were retrospectively screened. Fifty-three diabetic patients were included and divided into two groups according to body mass index (BMI): >= 30 and <30. The groups were matched for age, gender, and other cardiovascular risk factors. The extent of CAD was assessed using the SYNTAX score. Statistical analyses were performed using IBM SPSS Statistics version 27, and a p-value of <0.05 was considered statistically significant. Results: There were no statistically significant differences between the groups (BMI hypertension, family history, atrial fibrillation, cerebrovascular disease, and smoking status. The SYNTAX score was significantly lower in the obese group (12.67 +/- 9.68) compared to the non-obese group (19 +/- 12.68) (p=0.046). Conclusion: Among diabetic patients, those who were obese had significantly less extensive and severe CAD compared to their non-obese counterparts, supporting the concept of the obesity paradox.
Cryptosporidiosis is an opportunistic infection caused by Cryptosporidium species. It leads to severe and prolonged diarrhoea in immunosuppressed patients such as paediatric solid organ transplant recipients. We present the case of a 17-year-old male with a history of Crigler-Najjar syndrome type I who underwent livingdonor liver transplantation. He was admitted with a 3-week history of vomiting and abundant watery diarrhoea. The patient was maintained on triple immunosuppressive therapy with tacrolimus, methylprednisolone, and mycophenolate mofetil. On admission, stool cultures and antigen assays for parasitic and viral pathogens, including Cryptosporidium parvum, were negative. Despite supportive treatment, his symptoms persisted, and a colonoscopic biopsy was performed. Although the mucosa appeared normal, histopathological examination revealed the presence of C. parvum. Azithromycin 500 mg was administered daily for 10 days, resulting in the rapid resolution of gastrointestinal symptoms. Early recognition and timely therapy may prevent serious complications, including rejection, biliary disease, and septic shock. This case underscores the limitations of stool antigen assays in immunosuppressed paediatric patients and highlights the diagnostic value of endoscopic biopsy in persistent diarrhoea.
Rectus femoris muscle is one of the most commonly injured components of the quadriceps, especially in athletes. Due to its unique bipennate and unipennate structure, it is prone not only to classical myotendinous injuries but also to an uncommon pattern known as "intramuscular degloving injury“. This injury refers to the dissociation between the superficial unipennate and inner bipennate components of the muscle. In this report, two male patients presented with anterior thigh pain and swelling following physical activity. Magnetic resonance imaging (MRI) revealed fluid collection between the muscle layers, haemorrhagic signal intensities on T1-weighted images, and central tendon retraction in both cases. Based on clinical and radiological findings, the diagnosis of intramuscular degloving injury of the rectus femoris was established. Both patients were conservatively managed and achieved symptomatic improvement. These cases highlight the significance of MRI in detecting this rare lesion and emphasise that such injuries may also affect non-athletic individuals.
Objective: This study aimed to identify and evaluate the top 50 most-cited articles on talus osteochondral lesions (OLTs), analysing their characteristics and research trends to provide insights for future studies and clinical management. Materials and Methods: A systematic search was performed in the Web of Science database using the terms "osteochondral lesions of the talus" and "talus osteochondral lesions." Articles were ranked by citation count, and the top 50 were included. Data on citations, publication years, authorship, study topics, journals, levels of evidence (LOE), and countries of origin were extracted. Results: The top 50 most-cited articles accumulated 8,470 citations (mean 169.4 per article). In the search covering the period 1980-2024, the top 50 most-cited articles were published between 1980 and 2017, with 80% appearing after 2000. The most-cited article, a systematic review by Zengerink et al., garnered 376 citations. The United States contributed 34% of the articles, followed by Italy and the Netherlands. Foot and Ankle International and The American Journal of Sports Medicine were the most common journals. Most articles (n=37) addressed treatment methods, including microfracture (n=14) and mosaicplasty (n=12). Diagnostic and imaging studies (n=7) were less common. The majority (n=37) were Level IV, with few higher-level studies. Conclusion: The findings emphasise the dominance of treatment-focused studies, particularly microfracture and mosaicplasty techniques. Despite advancements in diagnosis and management, the predominance of Level IV evidence and scarcity of randomised controlled studies highlight the need for multicentre studies to establish standardised protocols.
Objective: Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare, indolent renal cell carcinoma variant, rarely showing unusual histology and aggressive behavior. We aimed to document histopatho logical and clinical characteristics and their relation to survival. Materials and Methods: We retrospectively identified 20 cases diag nosed as MTSCC between 20072024 and documented the relationship between clinicopathological features and followup. Results: There were 9 males and 11 females with a mean age of 54.6 +/- 11.1 (range: 2872). Twelve (60%) underwent radical nephrectomy, 5 (25%) partial nephrectomy, 3 (15%) trucut biopsy. Eight (40%) were consultation cases, 12 (60%) were inhouse material. The median tumor diameter was 70.4 (IQR: 4.889.03) mm. The presence of hemorrhage was observed in 2 (10%), necrosis in 4 (20%), sarcomatous transformation in 2 (10%). Median number of tissue blocks per case was 13 (IQR: 817.5) and correlated with the presence of sarcomatous differentiation (r=0.561, p=0.019). Mean followup time was 82.9 +/- 63.9 months. Four patients succumbed to disease with distant metastasis and two to other causes. One showed local recurrence. Remaining patients showed no recurrence or metastasis. Among four patients who died of disease, two showed sarcomatous transformation. Sarcomatous transformation showed worse prognostic significance in univariate analysis for overall survival (p=0.028), although not validated in multi variate Cox regression model (HR: 0.607, 95% CI: 0.03012.120, p=0.744). Kaplan Meier analysis showed that survival probability was lower in patients with sarcomatous transformation (0% vs 88.9%, p=0.008). Conclusion: MTSCC is a distinct renal neoplasm typically with an indolent prognosis, though rarely metastasizes, causing death. Meticulous histopathological assessment and close followup is essential.
Objective: Accurate preoperative localisation is crucial for the surgical management of primary hyperparathyroidism (pHPT). When first-line imaging modalities such as ultrasonography (USG) and Sestamibi SPECT/CT fail to identify the hyperfunctioning gland, four-dimensional computed tomography (4D-CT) may offer additional diagnostic benefit. Materials and Methods: This retrospective study reviewed 370 parathyroidectomy cases and included adults with primary hyperparathyroidism who underwent 4D-CT after ultrasonography and technetium-99m sestamibi SPECT/CT failed to localise the parathyroid adenoma. Patients with secondary or tertiary hyperparathyroidism were excluded. Demographic and biochemical data, intraoperative findings, and histopathology results were analysed. A standardised three-phase 4D-CT protocol and intraoperative PTH monitoring were used, and the imaging results were correlated with surgical and pathological outcomes to determine diagnostic accuracy. Results: 4D-CT accurately localised parathyroid adenomas in 13 of 22 patients (59%), with a sensitivity of 68.4%, specificity of 33.3%, positive predictive value of 86.7%, negative predictive value of 14.3%, and overall diagnostic accuracy of 63.6%. Two patients had mediastinal ectopic adenomas, and the false-positive rate was 13.3%. Focused or unilateral neck exploration was feasible in 59% of patients, reducing surgical invasiveness. No major postoperative complications were observed. Conclusion: 4D-CT provides significant diagnostic and surgical value in patients with nonlocalized pHPT following inconclusive first-line imaging. Its high positive predictive value enables precise localisation and supports minimally invasive parathyroidectomy, improving operative precision and patient outcomes.
Objective: This study aimed to compare the clinical features of patients with suspected systemic autoinflammatory diseases (SAIDs) by genetic status to identify the characteristics of variant-negative patients. Materialsand Methods: Clinical findings and results of the targeted next-generation sequencing of "fever panel genes" of patients with suspected SAIDs were retrospectively reviewed using their medical records. Results: Records of 137 patients (79 females, 58 males, mean age 40.8 +/- 12.6) referred to our clinic between April 2019 and January 2023 were evaluated. Variants associated with the relevant phenotypes were identified in 105 patients (76.6%), whereas 32 (23.4%) had no pathogenic or likely pathogenic variants, nor variants of uncertain significance (VUS). Variant-negative patients were older at diagnosis than variant-positive ones (38.2 +/- 13.6 vs. 28.4 +/- 14.8 years; p=0.02). Fever and arthritis occurred with a similar frequency between the groups. Compared with the variant-positive patients, the variant-negative group more often presented with nausea, weight loss, diarrhoea, erythema nodosum, headache, and sensorineural hearing loss (SNHL). Cerebrovascular occlusion occurred more frequently among variant-positive patients. Conclusion: Our study illustrates that the yield of genetic screening is expected to be low in patients older than 40 years and those presenting with nausea, weight loss, diarrhoea, erythema nodosum, headache, and SNHL. A better definition of those variant-negative patients may identify some subgroups of patients with SAID features associated with potential multifactorial causes or somatic mosaic variants.
Objective: We aimed to share our long-term surgical outcomes in 25 patients with intraventricular lesions who underwent surgery via transcortical, interhemispheric, telovelar, and transvermian approaches. Materials and Methods: This study was conducted as a retrospective analysis of patients who underwent surgery for intraventricular brain tumors at our institution between September 2016 and January 2025. Patients were operated using the Kinevo 900 (Carl Zeiss Meditec, Oberkochen Germany) with intraoperative administration of sodium fluorescein, and an optical neuronavigation system (Stealth-Station S8, Medtronic, Minneapolis, MN, USA) was used in all cases. Results: The study population consisted of 14 females (56%) and 11 males (44%), with a mean follow-up period of 64.4 months. The most frequent diagnosis was colloid cyst, observed in six patients (24%). Other common tumor types included meningiomas (four patients, 16%), pilocytic astrocytomas (three patients, 12%), ependymomas (three patients, 12%), subependymomas (two patients, 8%), and central neurocytomas (two patients, 8%). Less frequent pathologies were medulloblastoma , lymphoma , solitary fibrous tumor , diffuse astrocytoma, and H3K27 altered diffuse midline glioma, (each in one patient and 4%). Surgical approaches included transcortical (n=10, 40%), interhemispheric (n=10, 40%), telovelar (n=4, 16%), and transvermian (n=1, 4%). According to the postoperative MRI findings, gross-total resection was achieved in 24 patients (96%), and subtotal resection in one patient (4%). Conclusion: Intraventricular tumors can be safely resected with favourable outcomes when the surgical approach is individualised based on tumor location and patient anatomy. Our high gross-total resection rate and low complication rate demonstrate that maximal safe resection constitutes the mainstay of treatment.
Objective: Allgrove syndrome (Triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency, often accompanied by neurological and autonomic findings. Its clinical heterogeneity and rarity frequently delay diagnosis. The aim of our study is to emphasize the importance of a thorough physical examination and family history, as well as to raise awareness about the syndrome. Materials and Methods: We describe six patients from four unrelated families diagnosed with Allgrove syndrome in eastern T & uuml;rkiye. Detailed clinical evaluations and genetic analyses were conducted. Aladin WD Repeat Nucleoporin (AAAS) gene variants were identified using next-generation sequencing and Sanger sequencing. Results: All patients presented with alacrima and achalasia; adrenal insufficiency was absent in one patient. Neurological manifestations were noted in four patients. Homozygous AAAS variant c.1066_1067delCT (p.Leu356Valfs*8) was identified in five cases; one patient carried the c.1432C>T (p.Arg478*) variant. Consanguinity was present in three families. Despite the rarity of this syndrome, two patients were diagnosed by a family physician unfamiliar with the condition, based on careful anamnesis. Conclusion: This study adds to the growing literature on Allgrove syndrome by highlighting the high frequency of the c.1066_1067delCT variant, suggesting a founder effect in eastern T & uuml;rkiye. The phenotypic variability observed-even among siblings-supports previous findings of limited genotype-phenotype correlation. Our report highlights the critical diagnostic role of primary care physicians in rare disease detection. Our findings emphasize raising awareness of Allgrove syndrome and integrating regional variant data into diagnostic algorithms. Early recognition by non-specialists can significantly reduce diagnostic delays in multisystemic genetic disorders.
Objective: The aim of this study is to evaluate the quality and readability of patient education materials about fibromyalgia generated by ChatGPT to assess whether this AI application can be reliably used as an online health information source for the general population. Materials and Methods: In this study, Google Trends was used to identify the most frequently searched keywords related to fibromyalgia. The identified keywords were categorized into three groups: general information, diagnosis, and treatment, and were sequentially entered into ChatGPT. The quality of the generated responses was assessed using the modified DISCERN (mDISCERN) tool. The readability of the texts was evaluated using the FleschKincaid Grade Level (FKGL) and FleschKincaid Reading Ease (FRE) parameters. Results: The mean mDISCERN score of the texts was 44.31 +/- 4.67, the mean FKGL score was 15.29 +/- 2.29, and mean FRE score was 24.23 +/- 10.27. The average mDISCERN score indicated that the texts were of moderate quality. According to the mean FleschKincaid scores, the texts were found to be quite difficult to read and were mostly appropriate for readers at the undergraduate level or higher. Furthermore, the statistical analysis among the three categories revealed no significant differences in mDISCERN, FKGL, and FKRE scores. Conclusion: AI language models like ChatGPT hold innovative potential in healthcare communication by providing accessible and unbiased information that can support health literacy and patient education. However, the high level of reading comprehension required currently limits their effectiveness and reliability for direct patient use. Therefore, the content generated by ChatGPT should be considered a complementary resource and should be critically examined by users.
