bluuebunny/crossref_metadata_2025_split huggingface dataset:
O-15 CUTANEOUS SARCOIDOSIS PRESENTING AS ASYMPTOMATIC PTH-INDEPENDENT HYPERCALCEMIA
Authors: Bhakar Bhawna , Khan Arshiya , Saqlain Muhammad 
Published: January 2025

Abstract

Introduction
Sarcoidosis is a rare disease primarily affecting the pulmonary system in approximately 90% of cases. (1) Cutaneous involvement occurs in 20-35% of sarcoidosis patients and can present without systemic manifestations (2). The skin is the second most commonly affected organ after the lungs in sarcoidosis (3).

Clinical Case
We report a unique case of cutaneous sarcoidosis presenting with asymptomatic hypercalcemia. An 81-year-old White British woman with a medical history of type 2 diabetes mellitus, anemia, hypertension, and polymyalgia rheumatica (PMR) was managed for left leg cellulitis. Examination revealed a systolic murmur, clear chest, bilateral erythema, raised temperature, and pitting edema at the infection site. An admission chest x-ray showed a known large hiatus hernia. Routine blood tests revealed adjusted calcium levels of 3.52 mmol/L (2.20-2.60 mmol/L), and PTH levels were low at 0.9 pmol/L (1.6-6.9 pmol/L), indicating PTH-independent hypercalcemia.
Further blood tests showed normal vitamin D (129nmol/L, n&gt;50nmol/L), ACE levels (&lt;5 IU/L), and thyroid funct,on tests (TSH 7.17mU/L, n0.30-4.20mU/L, T4 15.6pmol/L, n11.9-21.6pmol/L, TPO antibody&lt;10IU/mL, n0-34). Myeloma screen (no monoclonal bands, Serum Kappa Free Light Chain:31.03 mg/L,n 3.30 - 19.40; Serum Lambda Free Light Chain:22.57 mg/L,n:5.71 - 26.30) and autoimmune screens (IgG:7.8 g/L,n:6.0 - 16.0; IgA:1.26 g/L,n:0.80 - 4.00; IgM*0.41 g/L,n:0.50 - 2.00) were negative. Elevated 1,25-dihydroxy vitamin D (calcitriol) was noted at 246 pmol/L. Occult malignancy was ruled out via normal CT chest, abdomen, and pelvis, gastroscopy with biopsy, and CT head scans. Initial PET CT results were reported as normal.
Hypercalcemia management included intravenous fluids, zoledronic acid, denosumab, steroids, and cinacalcet. Subsequent detailed PET CT report revealed extensive moderate FDG uptake in the subcutaneous tissue of both arms. Physical examination identified subcutaneous nodules, and histology confirmed a florid dermal non-necrotizing granulomatous reaction, diagnosing extra-pulmonary cutaneous sarcoidosis.
Interestingly, the patient had been on long-term prednisolone (10 mg) for PMR, recently reduced to 4 mg prior to admission. Her calcium levels normalized (2.57 mmol/L) after weaning off prednisolone.

Conclusion
Hypercalcemia in cutaneous sarcoidosis without pulmonary involvement is rare. Long-term follow-up is essential, as patients with cutaneous sarcoidosis may develop systemic involvement. She was referred to pulmonary and dermatology specialists for further evaluation.
P-34 XX MALE SYNDROME DIAGNOSED AT AGE 52
Authors: Vinogradskaya Olga , Bublik Evgeniya , Gabidzashvili Nino , Farmanov Alexander , Zilov Alexey , Ryzhkova Ekaterina 
Published: January 2025

Abstract

Introduction
XX male syndrome (de la Chapelle syndrome) is a rare disorder of sex development linked to a 46,XX karyotype. Depending on the presence of the SRY gene, two variants of this disease are distinguished: SRY-positive and SRY-negative ones. The SRY (sex-determining region Y) gene is involved in the differentiation of Sertoli cells and development of the tests. Typically, de la Chapelle syndrome is diagnosed in childhood or adolescence. We present a case where XX male syndrome was diagnosed at age 52.

Clinical Case
A 52-year-old man came to our clinic complaining of excess weight, decreased libido, and fatigue with little physical activity.
Physical examination discovered full masculinization, microorchidism, gynecomastia, obesity.
At the time of his visit, he was undergoing chemotherapy for β-cell lymphoma. It is known that due to severe pain in the spine, he had been injecting himself with dexamethasone every day for six months, which led to secondary adrenal insufficiency. When he came, we stopped dexamethasone and initiated hydrocortisone. We reduced the dosage until it was completely discontinued over 4 months. The function of the adrenal glands was completely restored, which was shown by laboratory tests.
On the first visit patient said that over the past 9-10 years he had been periodically receiving testosterone therapy due to low testosterone level. The decrease in testosterone was explained by obesity. About 10 years ago, investigation was performed due to infertility. Investigation showed a low testosterone level, a high FSH and LH level, azoospermia, a small testicular volume in the ultrasound were detected. Hypergonadotropic hypogonadism was diagnosed. Karyotyping analysis revealed a chromosomal complement of 46,XX. Molecular genetic testing confirmed the SRY-positive variant of de la Chapelle syndrome. Thus, we understand the reason for patient's low testosterone, and replacement therapy with testosterone was prescribed. And we recommended assisted reproductive technologies using donor sperm.

Conclusion
It is important to remember that in men of any age with hypogonadism and infertility, chromosomal abnormalities must be excluded (and not only in children and adolescents).Figure 1:Karyogram of the patient, 46,XX
P-39 A LATE ONSET CASE OF CHYLOMICRON RETENTION DISEASE
Authors: Akcura Can , Alkan Samet , Güney Sedat Can , Sunbul Busra , Ozdemir Nilufer , Hekimsoy Zeliha 
Published: January 2025

Abstract

Introduction
Chylomicron retention disease (CRD) is an uncommon genetic disorder caused by a mutation in the SAR1B gene, which encodes the Sar1b protein. Sar1b plays a role in transporting chylomicrons from the endoplasmic reticulum to the Golgi apparatus. Often diagnosed in the early stages of life, CRD typically presents with failure to thrive, gastrointestinal symptoms and malabsorption of fat, which leads to secondary clinical conditions such as hepatomegaly, neuromuscular disorders, hypolipidemia and deficiencies of fat soluble vitamins (A, D, E, K).

Clinical Case
A 56-year-old male patient was referred to our endocrinology outpatient clinic with low blood lipid levels. He expressed pain on his hands and feet. He also described vomiting after fat-rich meals since his childhood. He had no history of smoking or alcohol consumption. His father had diabetes mellitus and hypertension, and his uncle had coronary artery disease. His physical examination was normal besides a peripheral sensorial neuropathy. His laboratory findings showed hypolipidemia and hypochromic microcytic anemia, alongside with vitamin B12, vitamin D and iron deficiency (Table 1). An abdominal ultrasonography was performed, the dimensions of both the liver and the spleen was normal, though a grade 1 hepatosteatosis was observed. An electromyelography was performed and the findings were compatible with axonal polyneuropathy. The patient was referred to the department of genetics for evaluation of familial lipid disorders. A genetic analysis was performed, and the analysis revealed a likely pathogenic heterozygous mutation in the NM_016103.4 c.243dupA p.A82fs*35 area of the SAR1B gene. The patient was diagnosed with chylomicron retention disease. He was referred to a dietetician for a low-fat diet. A bone mineral density scan was planned and oral vitamin D treatment was initiated, alongside with oral iron and vitamin B12 treatment. The patient was also referred to departments of neurology, ophtalmology and cardiology for possible systemic involvement. He was also referred to gastroenterology for endoscopic and colonoscopic scanning. Moreover, his close relatives were advised to be evaluated for CRD. Later on, one of his grandchildren was diagnosed with CRD and is currently under treatment in another institution.

Conclusion
Though rarely diagnosed during adulthood, CRD should still be included in the differential diagnosis of patients with hypolipidemia; especially in cases with vitamin deficiencies. Gastrointestinal symptoms often encountered during childhood may be absent or vague in adulthood, but careful systemic assessment and physical examination gives valuable clues in the diagnosis of CRD, alongside with appropriate laboratory and genetic analysis. Once diagnosed, other family members, especially children, of CRD patients should also be evaluated about this rare genetic disease.
Financial disclosures: None
Funding resources: NoneTable 1:Laboratory findings of the patient
P-70 THYMIC HYPERPLASIA AND GRAVES' DISEASE: IS THERE A HIDDEN AUTOIMMUNE DISORDER?
Authors: Slato Anida Divanović , Šakić Belma , Nalbani Spahić Elma , Burekovic Azra 
Published: January 2025

Abstract

Introduction
Thymic hyperplasia is reported in 10-38% of patients with Graves' disease.

Clinical Case
We present a case of a 45-year-old female with Graves' disease and thymic hyperplasia, exhibiting non-specific symptoms.
The patient was diagnosed with Graves' disease at age 42 and treated with thiamazole. While she was taking thiamazol she was felt muscle pain, spasms, and pulsations. Her pituitary and adrenal hormones were within normal limits. Three months after diagnosis, she was hospitalized for recurrent transient ischemic attacks. Myasthenia gravis was suspected, but acetylcholine receptor antibody tests, though initially elevated, were later normal.
The patient also experienced flushing, and neck and facial redness without a clear diagnosis. She developed erythematous changes on her thighs, arms, and cleavage. Mastocytosis was suspected, but skin biopsy and serum tryptase tests were negative. She also reported frequent nocturnal bowel movements. Tumor markers such as chromogranin A and glucagon were slightly elevated, but a Ga-68 Dotatoc PET CT scan showed no evidence of neuroendocrine tumors.
After six months of remission, the patient discontinued thiamazole, leading to symptom resolution and normalization of anti-TRAb levels. However, her TSH receptor antibodies increased seasonally, from February to August, over the next two years, resulting in hyperthyroidism. Thyroid ultrasound revealed changes consistent with autoimmune thyroid disease. The patient declined thymectomy and thyroidectomy. Due to adverse reactions to thiamazole and propranolol, possibly linked to Myasthenia gravis, she was switched to propylthiouracil with a good response.
The etiology of symptoms atypical for hyperthyroidism or thymic hyperplasia, such as facial muscle tingling, spasms, pulsations, and erythematous rash, may be related to other autoimmune or neurological conditions, including Stiff Person syndrome and Myastenia gravis. Additionally, the seasonal recurrence, from February to August, of Graves' disease over three consecutive years is notable. Given the high prevalence of thymic hyperplasia in Graves' disease, ruling out neurological autoimmune diseases is advisable, as specific symptoms can affect the quality of life and may be exacerbated by antithyroid therapy.
γ-secretase facilitates retromer-mediated retrograde transport
Authors: Takeo Yuka , Crite Mac , Mehmood Kashif , DiMaio Daniel 
Published: January 2025

ABSTRACT
Retromer mediates retrograde transport of protein cargoes from endosomes to the trans-Golgi network (TGN). γ-secretase is a protease that cleaves the transmembrane domain of its target proteins. Although retromer can form a stable complex with γ-secretase, the functional consequences of this interaction are not known. Here, we report that retromer-mediated retrograde protein trafficking in cultured human epithelial cells is impaired by the γ-secretase inhibitor XXI or by knockout of PS1 (also known as PSEN1), the catalytic subunit of γ-secretase. These treatments inhibited endosome-to-TGN trafficking of retromer-dependent retrograde cellular cargoes, divalent metal transporter 1 isoform II, cation-independent mannose-6-phosphate receptor and shiga toxin, whereas trafficking of retromer-independent cargoes, cholera toxin and a mutant CIMPR unable to bind retromer was not affected. Moreover, we found that γ-secretase associates with retromer cargoes even in the absence of retromer. XXI treatment and PS1 knockout did not inhibit the ability of retromer or γ-secretase to associate with cargo and did not affect the expression of retromer subunits or Rab7-GTP, which regulates retromer–cargo interaction. These results imply that the γ-secretase–retromer interaction facilitates retromer-mediated retrograde trafficking of cellular transmembrane proteins.
„Wyznaczając ścieżkę z mapy na ląd”. Suwerenność cielesna w esejach Billy’ego-Raya Belcourta A History of My Brief Body
Authors: Ziarkowska Joanna 
Published: January 2025

Autorka artykułu analizuje sposoby, w jakich pisarz z narodu Driftpile Krii w Północnej Albercie, Billy-Ray Belcourt, wykorzystuje ciało i ucieleśnione doświadczenia, by stworzyć teoretyczne ramy dla dekolonizacji pojęć, takich jak seksualność, erotyzm i suwerenność. Według Belcourta indygeniczne ciało zostało nie tylko skolonizowane i ograniczone przez heteronormatywność osadników kolonialnych, ale również zignorowane przez rodzimych krytyków, artystów i pisarzy jako nieistotne w porównaniu z teorią indygeniczności. Dlatego w swoich tekstach Belcourt podkreśla centralną rolę ciała jako ramy teoretycznej, a także źródła (seksualnej) przyjemności w codziennym życiu. Opowiada się za „rdzenną radością”, która afirmuje tożsamości tubylczych mieszkańców we wszystkich ich wymiarach, w tym osób o dwóch duszach (ang. Two-Spirit) i queer, zapewniając im tym samym emocjonalne wsparcie w codziennej walce z przejawami kolonializmu osadniczego.
Czy to jest wystarczająco indiańskie?
Authors: Maciołek Marek 
Published: January 2025

Tłumaczenia tubylczej poezji i prozy amerykańskiej

nila northsun
jutro mam być indianką
Karenne Wood
Moja zwyczajowa odpowiedź
Jedna na trzy albo cztery
Lilie
Nazywanie
Marcie Rendon
Wytrzymałość
co ma zrobić indianka?
Hershman R. John
Ulewny Męski Deszcz
Beth Piatote
Lekcja koralików
David Heska Wanbli Weiden
Mikey
Bile cast nephropathy (cholemic nephropathy) associated with hepatitis A-induced acute liver failure and haemolysis in a patient with glucose-6-phosphate dehydrogenase deficiency
Authors: Hamdan Ali , Salem Johny , Karam Karam , Ziadeh Maria , Hani Pierre 
Published: January 2025

Introduction: The hepatitis A virus (HAV) is a common cause of acute hepatitis, while glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widespread enzyme disorder that predisposes individuals to haemolysis and hyperbilirubinemia. We report a case of a G6PD-deficient patient with hepatitis A-induced acute renal failure (ARF), highlighting the role of plasmapheresis and haemodialysis in management. Case description: A 40-year-old male with G6PD deficiency and hypertension was transferred for further care after presenting with fever, diarrhoea and jaundice. Laboratory results showed severe haemolysis and elevated bilirubin (70 µmol/l); hepatitis A serology was positive. The patient developed acute liver failure and ARF, with creatinine reaching 7.3 mg/dl. Plasmapheresis and haemodialysis were initiated, leading to stabilisation of renal function and a significant decrease in bilirubin by six weeks post-discharge. Discussion: G6PD deficiency increases the risk of haemolysis, especially during infections such as hepatitis A. This can lead to severe hyperbilirubinemia and complications including bile cast nephropathy. In this case, plasmapheresis effectively reduced bilirubin and inflammatory mediators, while haemodialysis addressed renal dysfunction. Together, these therapies were crucial in stabilising renal function. Conclusion: Bile cast nephropathy is an important cause of kidney injury in severe hyperbilirubinemia. This case highlights the effectiveness of plasmapheresis and haemodialysis in managing the condition and supporting renal recovery, especially in the absence of established treatment guidelines.
The Depression, Anxiety, Stress Scales-21: Principal component analysis and evaluation of abbreviated versions in young adults with temporomandibular disorders
Authors: Xiong Yinghao , Yap Adrian Ujin , Marpaung Carolina , Wong May Chun Mei 
Published: January 2025

Background
The Depression, Anxiety, Stress Scales-21 (DASS-21) contain three subscales measuring depression, anxiety, and stress. Several abbreviated DASS-21 versions have been developed, demonstrating better clinical utility and measurement properties than the original instrument. This study explored the factor structure of various abbreviated DASS-21 versions and identified/validated the optimal one for assessing young adults with temporomandibular disorders (TMDs).

Methods
A total of 974 university-attending young adults were recruited in two waves (wave 1: 519; wave 2: 455). Demographic information, the DASS-21, and quintessence five TMD symptoms (5Ts) of the Diagnostic Criteria for TMDs were collected. Principal component analysis (PCA) was employed to condense the DASS-21 (wave 1 data), while confirmatory factor analysis (CFA) was used to determine maximum likelihood estimates and compare different abbreviated DASS-21 versions (wave 2 data). Known-group, concurrent (criterion) validity and reliability were subsequently evaluated.

Results
The mean age of the study participants was 21 (SD = 0.1) years and 80.4% were women. Twelve DASS-21 items were identified from the PCA. However, the Korean DASS-12 provided the best-fit model (χ2/df = 2.07, CFI = 0.975, TLI = 0.960, RMSEA = 0.049, SRMR = 0.033) among the seven abbreviated versions in the CFA. The Korean DASS-12 showed good known-group and concurrent (rs = 0.959) validity and reliability when contrasted to the DASS-21.

Conclusion
The Korean DASS-12 possessed a good fit, known-group, as well as concurrent (criterion) validity and reliability, and was the best abbreviated DASS-21 version for screening young adults with TMD symptoms for psychological distress.
A comprehensive outline of antimicrobial resistance, antibiotic prescribing, and antimicrobial stewardship in South Africa: A scoping review protocol
Authors: Ahmed Suwayda , Ahmed Rukshana , Adam Razia Zulfikar 
Published: January 2025

Introduction
The global prevalence of antimicrobial resistance transcends geographical and economic boundaries, affecting populations worldwide. Excessive and incorrect use of antibiotics encourages antimicrobial resistance which leads to complex treatment strategies for infectious diseases and possible failure of treatment. The incorrect and unnecessary prescribing of antibiotics places a burden on healthcare costs and thus, antimicrobial resistance is evident globally as a major public health concern. The impact is particularly pronounced in low to middle-income countries, where limited access to healthcare exacerbates the crisis. This scoping review aims to comprehensively map the evidence of antimicrobial resistance in healthcare settings, encompassing the exploration of antibiotic prescribing practices and the implementation of antimicrobial stewardship initiatives in South Africa.

Methodology
This protocol has been registered in the Open Science Framework (https://doi.org/10.17605/OSF.IO/PWMFB). This review will consider all types of study designs, conducted within South Africa. Studies that are published in English for the period 2019–2024, and that explore antimicrobial resistance (AMR) evidence in healthcare in South Africa, including antibiotic prescribing trends and antimicrobial stewardship and surveillance initiatives will be included. Non-English publications, studies outside of South Africa, animal and environmental studies will be excluded. The criteria for the scoping review will be set by two reviewers. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) tool will be used. Studies will be identified through an extensive search of peer-reviewed and grey literature databases. The results of the review will be tabulated and include a narrative synthesis of the findings.
Oral health-related conditions in Ecuador: A temporal trend analysis of hospital discharges from 2000–2023
Authors: Baldeón Verónica , Hernández Adriana , Tapia Sthephany , Rodriguez Alejandro 
Published: January 2025

Background
Monitoring hospitalization rates associated with oral health conditions is an important part of epidemiological surveillance, especially when these conditions have increased significantly in low—and middle-income countries. This study aimed to evaluate the temporal trends in hospital discharges associated with oral health-related conditions in Ecuador from 2000 to 2023 and identify the leading diagnoses groups.

Methods
An ecological time-series study was conducted based on annual data from the National Institute of Statistics and Censuses of Ecuador. We identified oral conditions using hospital discharge records, which were classified according to the International Classification of Diseases. We estimated crude and age-standardized rates per 100,000 inhabitants for the entire population and crude rates by sex, age, region, and the diagnosis. Joinpoint analysis was used to identify national trends in hospital discharges.

Results
A total of 93652 hospitalizations were identified. Malignant tumors of the head, face, and neck were the most common diagnosis attributed to hospital discharges (16.5%), followed by cleft palate (14.5%) and cleft lip (7.8%) and other diseases of the jaws (5.4%). The crude rate of OHRC increased from 17.94 to 28.81 hospitalizations per 100,000 population between 2000 and 2023. Based on joinpoint analysis, hospital discharges increased by 2.2% annually during the study period. However, three temporal trends were identified: from 2000 to 2017, hospital discharges increased annually by 4.3% (p<0.05); from 2017 to 2020 decreased by 17.2%; and from 2020 to 2023 increased annually by 12.9%. Average hospitalization rates were higher among those aged 0–9 and > 64 years.

Conclusions
Hospitalization rates associated with oral health-related conditions in Ecuador have increased significantly over the past twenty-four years, except during the COVID-19 pandemic, where cases dropped considerably. Many of the oral conditions identified in the study were malignancies, which are caused by a complex relationship between genetic, environmental, and behavioral factors. Conducting early detection analysis is essential to reduce their occurrence.