bluuebunny/crossref_metadata_2025_split huggingface dataset:
The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran
Authors: Shariati Mohammad , Davoudi Alireza , Boostani Reza , Ashrafzadeh Farah , Beiraghi Toosi Mehran , Todarbary Nafiseh , Akhondian Javad , Hashemi Narges , Sadr-Nabavi Ariane 
Published: July 2024

Abstract
Background
Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted. Due to the autosomal recessive pattern of SMA inheritance, individuals with a family history of SMA are at risk of being carriers. A total of 622 individuals from SMA families, including parents, siblings, and first, second, and third-degree relatives, were recruited to the neuro-genetic clinic of Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. SMA cases and suspected carriers were referred to the genetic laboratory. Pregnant women underwent amniocentesis and chorionic villi sampling at 12–14 gestational weeks. RFLP-PCR and real-time PCR were performed for symptomatic and asymptomatic individuals (possible carriers), respectively. RFLP and real-time PCR were performed for amniotic fluid and chorionic villi samples.

Results
The study enrolled 622 subjects from SMA-affected families, including 159 fetuses and 463 non-fetuses. Two samples were missing. A total of 268 individuals (43.2%) were healthy (wild type), 187 individuals (30.1%) were heterozygous for exon deletion of SMN1, and 143 individuals (23%) were homozygous for exon deletion of SMN1. Four individuals (0.6%) showed three copies of the SMN1 gene.

Conclusion
The frequency of carriers with two SMN1 copies on a single chromosome (cis) was estimated at 2.9% (18/622), and the total rate of carriers was approximately 21.8%. Considering the high rate of SMA carriers in this study, genetic counseling and definitive prenatal diagnosis are of utmost importance for reducing the psychosocial burden of the SMA disease among Iranian families.
Cord Blood Fetuin-B, Fetal Growth Factors, and Lipids in Gestational Diabetes Mellitus
Authors: Wang Wen-Juan , He Hua , Fang Fang , Liu Xin , Yang Meng-Nan , Chen Zi-Lin , Wu Ting , Huang Rong , Li Fei , Zhang Jun , Ouyang Fengxiu , Luo Zhong-Cheng 
Published: July 2024

Abstract

Context
Fetuin-B is a hepatokine/adipokine implicated in glucose homeostasis and lipid metabolism.

Objective
We sought to assess whether cord blood fetuin-B levels are altered in gestational diabetes mellitus (GDM) and the association with fetal growth factors and lipids.

Methods
In a nested, case-control study of 153 pairs of neonates of mothers with GDM and euglycemic pregnancies in the Shanghai Birth Cohort, we assessed cord blood fetuin-B in relation to fetal growth factors and lipids (high-density lipoprotein, low-density lipoprotein [LDL], total cholesterol [TC], and triglycerides).

Results
Cord blood fetuin-B concentrations were higher in the newborns of GDM vs euglycemic mothers (mean ± SD: 2.35 ± 0.96 vs 2.05 ± 0.73 mg/L; P = .012), and were positively correlated with LDL (r = 0.239; P &lt; .0001), TC (r = 0.230; P = .0001), insulin-like growth factor-Ⅰ (IGF-Ⅰ) (r = 0.137; P = .023) and IGF-Ⅱ (r = 0.148; P = .014) concentrations. Similar associations were observed adjusting for maternal and neonatal characteristics.

Conclusion
The study is the first to demonstrate that fetuin-B levels are elevated in fetal life in GDM, and that fetuin-B affects lipid metabolic health during fetal life in humans. The secretion of fetuin-B appears to be related to the secretion of IGF-Ⅰ and IGF-Ⅱ.
Hypothyroidism-induced Rhabdomyolysis in a Pediatric Patient
Authors: Abd El Baky Hend , Cziranka-Crooks Danika , Prasanna Kumar Brinda , Jacobs Meghan , Killion Jeremy , Mastrandrea Lucy D 
Published: July 2024

Abstract
Hypothyroidism is a common clinical condition with nonspecific symptoms such as fatigue, cold intolerance, and constipation. Rarely, severe primary hypothyroidism presents with rhabdomyolysis. We present a 12-year-old boy with several months of fatigue, muscle cramping, and elevated creatine kinase (CK) who was found to have severe primary hypothyroidism. Initial laboratory evaluation was significant for CK 2056 U/L (reference, 0-300 U/L; 34.34 µkat/L) and creatinine 1.39 mg/dL (reference, 0.4-1 mg/dL; 122.88 µmol/L). He was admitted for management of rhabdomyolysis with acute kidney injury. Further biochemical testing revealed profound hypothyroidism—thyrotropin 494 mIU/mL (reference, 0.40-6.00 mIU/mL) and free thyroxine (T4) less than 0.4 ng/dL (reference, 0.80-1.80 ng/dL; &lt;5.15 pmol/L). Thyroglobulin and thyroid peroxidase autoantibodies were positive, confirming autoimmune hypothyroidism. Low-dose levothyroxine was initiated. With aggressive rehydration, creatinine and CK levels improved. The patient was discharged home with instructions to escalate thyroid hormone replacement over 8 weeks. While the etiology of CK elevation in severe hypothyroidism is poorly understood, it is hypothesized that T4 deficiency alters mitochondrial oxidative capacity and glycogenolysis precipitating muscle atrophy and breakdown with CK release. This case highlights that clinicians should consider thyroid function testing in patients with symptoms of muscle pain and unexplained elevations in CK.
Transformation of a Benign Adrenocortical Adenoma to a Metastatic Adrenocortical Carcinoma Is Rare But It Happens
Authors: Angelousi Anna , Jouinot Anne , Bourgioti Charis , Tokmakidis Panagiotis , Bertherat Jérôme , Kaltsas Gregory 
Published: July 2024

Abstract
The transformation of an adrenocortical adenoma (ACA) to an adrenocortical carcinoma (ACC) is extremely rare. Current guidelines suggest against further imaging studies and follow-up in patients with nonfunctional adrenal incidentalomas (NFAIs) with benign imaging characteristics. Herein, we present a 64-year-old male patient diagnosed initially with a NFAI of 3 cm in size with imaging characteristics consistent with an ACA. However, 13 years after initial diagnosis, this apparent ACA developed into a high-grade cortisol and androgen-secreting ACC with synchronous metastases. The literature review revealed a further 9 case reports of adrenal incidentalomas initially characterized as ACA that subsequently developed into ACC within a period ranging from 1 to 10 years. The pathogenesis of transformation of an initially denoted ACA to ACC is not fully delineated, although the existing literature focuses on the preexisting or changing genetic background of these lesions, highlighting the need to develop robust prognostic markers to identify patients at risk and individualize the follow-up of these unique cases.
Biological Therapy, Therapeutic Approaches and Future Perspectives in the Treatment of Chronic Rhinitis
Authors: Magierska Agata , Szczepaniak Zuzanna , Ptak Olga , Gomułka Krzysztof 
Published: July 2024

Introduction: The widespread prevalence of chronic rhinitis necessitates the search for effective treatment methods. Modern type of medicine is biological treatment. Pathomechanism of AR is based on lymphocytes Th-2 reaction and connected with that cascade of effects. Biological treatment in the form of monoclonal antibodies blocks interleukins or immunoglobulin E signaling and leads to decrease in inflammatory reaction. Mechanism of action of these drugs and short period of use in AR requires patients to meet the including criteria and is usually used after other treatment options have run out. Taking under consideration the amount of patients suffering from AR and the impact on the quality of life indicates that there is still a need for new drugs and using drugs which are useful in similar diseases.
Purpose of the work: This study aims to review and evaluate biological drugs used or having the potential to be used in the treatment of allergic rhinitis (AR), including: omalizumab, dupilumab, mepolizumab, reslizumab and the possibility of their use on a wider scale in the future.
Materials and methods: An analysis of research papers available on PubMed and Google Scholar was undertaken using the following keywords: chronic rhinitis with nasal polyps; immunotherapy; monoclonal antibodies; allergic rhinitis; Quality of Life in rhinitis; omalizumab; dupilumab; mepolizumab; reslizumab; biological treatment during pregnancy;
Results: The use of biological drugs in AR results in a significant improvement in symptom control and an increase in quality of life. This option can be an effective form of treatment for nasal polyps, reducing the risk of needing sinus surgery. However, the criteria for using these drugs are still very limiting, due to the lack of specific biomarkers that could early indicate a high chance of success. Biological drugs seem to be a great opportunity and a worthwhile possibility in the treatment of people with chronic allergic rhinitis.
Can one die because of Hashimoto’s disease? – a clinical review of diagnosis, clinical features and treatment of myxedema coma
Authors: Bochyński Karol , Dacka Michał , Giżewska Kamila , Białogłowski Konrad , Dąbrowska Paulina , Żuber Michał , Ciuba Katarzyna , Molenda Katarzyna , Borodziuk Filip , Borodziuk Barbara 
Published: July 2024

Introduction and Purpose
Hashimoto’s disease is the most common reason of hypothyroidism. Usually, it is easy to recognize and treat. However, under certain circumstances, it may develop into the most severe manifestation of hypothyroidism known as myxedema and can lead to a threat to the patient's life.
Hypothyroid crisis, or myxedema coma, is an extremely rare but fatal medical emergency. If the condition is not promptly diagnosed and treated, the mortality rate is high as 50%. Even with immediate recognition and appropriate medical intervention, mortality rates of up to 25% have been observed.
This article aim is to enhance medical community awareness by examining features of myxedema, prevalence, and associated risk factors, contributing to improved clinical management. Emphasizing tailored treatment strategies for hypothyroidism, coexisting illnesses, and metabolic decompensation, it ultimately seeks to enhance outcomes for patients with severe hypothyroidism.
Material and methods
Conducting a systematic review of medical articles from 1997 to 2024 using PubMed, this study analyzed articles with keywords such myxedema coma, hypothyroidism, Hashimoto’s thyroiditis. Inclusion of pertinent articles ensured a comprehensive exploration of myxedema coma literature during the specified time frame.
Summary
Myxedema coma is a thyroid emergency linked to hypothyroidism. This review sheds light on the etiology of myxedema, clinical manifestations, diagnostic criteria and comprehensive treatment options. In order to reduce mortality in patients, there is a need to increase knowledge of the risk of development, clinical features and management not only for emergency physicians but also for physicians of all specialties..
Physical activity as a prescription for diabetic retinopathy
Authors: Poborowska Dominika , Kahan Weronika , Polańska Katarzyna , Najjar Oliwia , Wojaczek Marta , Bąk Emilia , Szafrańska Weronika , Fordymacki Jacek , Gańko Tomasz 
Published: July 2024

Introduction and purpose
Diabetic retinopathy is one of the leading causes of vision loss in diabetic patients.The purpose of this work is to confront the problem of retinopathy and present the beneficial effects of physical activity on retinal health in patients in this risk group.
State of knowledge
This paper reviews the literature on the problem of microangiopathic complicationsof diabetes, diabetic retinopathy, and the effect of physical activity on changing the incidence of this complication. According to the WHO, diabetic retinopathy is the leading cause of preventable blindness and visual impairment. Trends in diabetes and its associated complications are steadily increasing. Diabetic retinopathy occurs in about one-thirdof diabetics. It can be prevented by controlling blood glucose, blood pressure and lipid levels. Following a proper diet and physical activity can maintain adequate glucose levels, thereby reducing the incidence of diabetes complications.
Material and method
The literature available on Google Schoolar and "PubMed" was reviewed. The focus was on presenting the problem of microangiopathic complications of diabetes mellitus detailing diabetic retinopathy, diagnosis, treatment methods, pathogenesis of the condition and prevention of this complication through the beneficial effect of regular physical activity in diabetic patients.
Summary
Our review succeeded in presenting the current status of the problem of retinopathy, the development of diagnosis and treatment of diabetic retinopathy. On the basis of a number of studies presented in this review, we managed to prove the positive aspect of physical exercise on prevention, treatmentand reduction of the effects and complications of diabetes. In our review, we concluded that increasing physical activity in daily lifestyle is one of the methods of treating diabetesby lowering blood glucose levels, thereby reducing the risk of diabetic retinopathyas a complication of diabetes.
Clinicopathological Features of Pediatric Insulinoma: A Single-Centre Study
Authors: Tian Feng , Zhao Jing , Ding Di , Feng Jiayan , Ma Yangyang 
Published: July 2024

Aims/Background: Insulinoma is an extremely rare condition in pediatric patients. This study aims to examine the pathological and clinical characteristics of pediatric insulinoma. Methods: A retrospective, single-center study was conducted involving five pediatric patients diagnosed with insulinoma. The study involved evaluating the postoperative status of the patients during follow-up and analyzing their clinical manifestations, diagnostic work-up, pathological findings, and therapeutic approaches. Results: The study cohort comprised four males and one female, aged between 4 and 9 years. Common symptoms included dizziness and fatigue. The insulinomas were located in various parts of the pancreas: two in the head, one in the neck, one in the body, and one in the tail. After undergoing subtotal pancreatectomy, four patients experienced no side effects during a follow-up period of 41 to 153 months. One patient, who underwent an incomplete pancreatic resection, required ongoing postoperative treatment with 150 mg Creon due to pancreatic enzyme deficiency. Postoperative pathological results indicated that all cases were low-grade neuroendocrine tumours, classified as grade 1 (G1) or grade 2 (G2). Two cases exhibited capsule invasion, and one case showed microvascular invasion. Despite these invasions, no recurrences or metastases have been observed to date. Conclusion: Surgical resection is a viable treatment option for pediatric insulinoma, yielding a favorable prognosis. The presence of capsular and microvascular invasions does not seem to affect the overall prognosis in these cases.
Kasne posljedice liječenja pedijatrijske akutne limfoblastične leukemije
Authors: Roganović Jelena 
Published: July 2024

With current treatment protocols, over 90% of children with acute lymphoblastic leukemia (ALL) are cured. Simultaneously with these excellent results, there is an increasing importance of the recognition of possible late effects of antileukemic treatment. The most frequent late effects of therapy for childhood ALL include endocrine abnormalities, obesity, growth disturbances, neurocognitive deficits, psychosocial adverse effects, cardiotoxicity, gonadotoxicity and reproductive changes, neurotoxicity, bone toxicity, secondary malignancies, and premature late mortality. Better recognition of late effects has resulted in the modifications of treatment regimens and development of guidelines for lifelong follow-up of survivors.
Kirurški pristup malignim tumorima abdomena dječje dobi
Authors: Mikulic Danko 
Published: July 2024

Solid abdominal malignancies are not frequent in children, however, they present with serious challenges for all of the experts dealing with the problem, and paediatric surgeons in particular. This review deals with the surgical approaches to most frequent abdominal tumors in children – neuroblastoma, hepatoblastoma and pancreatic tumors. Different aspects in the surgical treat ment of tumors of the retroperitoneum, liver and pancreas are discussed with an emphasis on the differences in surgical approaches between children and adults.
The effectiveness of group interpersonal synchrony in young autistic adults’ work environment: A mixed methods RCT study protocol
Authors: Dvir Tamar , Rabinowitch Tal-Chen , Elefant Cochavit 
Published: July 2024

Introduction
Few autistic adults are able to integrate successfully into the world of work given their difficulties adapting to the social and stressful aspects of work environments. Interpersonal synchrony, when two or more individuals share body movements or sensations, is a powerful force that consolidates human groups while promoting the ability to self-regulate and cooperate with others. The abilities to self-regulate and cooperate are crucial for maintaining a calm and productive work environment. This study protocol outlines research that aims to assess the effects of group interpersonal synchrony on prosociality and work-related stress of young autistic adults in their work environment.

Methods and analysis
This mixed-methods randomized controlled trial will investigate two movement-based group synchronous and non-synchronous intervention conditions. The sample will be composed of young adults enrolled in an innovative Israeli program designed to integrate cognitively-abled 18- to 25-year-old autistic adults into the Israeli army work force. The movement-based intervention sessions will take place in groups of 10–14 participants, once a week for 10 weeks. Questionnaires, behavioral collaborative tasks and semi-structured interviews will be conducted. Quantitative data will be collected for each participant at three points of time: before and after the intervention period, and 17 weeks after the end of the intervention. Qualitative data will be collected after the intervention period in interviews with the participants.

Discussion
Little is known about interventions that promote successful integration into social and stressful work environments. The findings are likely to shed new light on the use of group interpersonal synchrony in autistic individuals at work.

Trial registration
NCT05846308.
The Solution of the Intuitionistic Fuzzy Linear Fractional Partial Differential Equations Using the Homotopy Analysis Method
Authors: SADIKI Hamid , Khadija Oufkir  , M'hamed Elomari  , Idris Bakhadach  
Published: July 2024

The present work is devoted to using an analytic approach, namely the homotopy analysis method, to solve the Fractional Partial Differential Equations with intuitionistic fuzzy initial data under generalized intuitionistic fuzzy Caputo derivative.
Fuzzy Ponics: a Fuzzy Based System to Control Temperature, Relative Humidity, Electrical Conductivity and PH of Hydroponics
Authors: E. Pakzad Armie , Ali Pakzad Abbas 
Published: July 2024

Hydroponics is a process in which plants grow in a nutrient solution instead of soil. It is a controlled environment agriculture (CEA), which needs intensive controlling of the greenhouse environmental condition such as temperature and relative humidity (RH) along with electrical conductivity (EC) and pH of nutrient solution. A successful Hydroponics System (HS) depends on the way the greenhouse is maintained in terms of the environmental condition and the plantâ€™s nutrient uptake. This paper presents FuzzyPonics, a system which focuses on the application of fuzzy logic algorithm to automatically control the temperature and RH of the greenhouse, alongside EC and pH of the nutrient solution. The identified input parameters were classified accordingly, relative to predefined linguistic outputs and solutions. Sugeno-style of Fuzzy Inference System (FIS) and triangular membership functions were used. The results were simulated using the rule viewer of Matlab Fuzzy Logic Toolbox for six FIS and the proponents were able to get favorable results, which only showed that a fuzzy logic controller is a powerful tool to control the environmental condition and the nutrient solutionâ€™s pH and EC of a hydroponics system.Â Â Â Â
Effect of Solvents and Crystallization Methods on the Formation of Carbamazepine-Saccharin Co-Crystal
Authors: Ab Rahman Fatinah , N. Engku Mat Nasir Engku , Abd Rahim Syarifah , Z. Edros Raihana , Anuar Nornizar 
Published: July 2024

Active Pharmaceutical Ingredients (API) crystallized in its co-crystal form is believed to be able to improve the physicochemical properties of its pure crystal. Carbamazepine (CBZ) and saccharin (SAC) were used in this study in investigation of effect of solvents and crystallization methods on the formation of CBZ-SAC co-crystal. There were four different solvents (acetonitrile, ethanol, ethyl acetate and propanol) and two crystallization methods (slurry and stirring crystallization) used in this study. The crystals produced were characterized by Differential Scanning Calorimetry (DSC), Powder X-Ray Diffraction (PXRD), Fourier Transform Infrared (FTIR) and optical microscopy. The findings revealed that only Form I of CBZ-SAC co-crystals was successfully formed for all parameters under studied. It was concluded that the type of solvents, crystallization methods and CBZ:SAC ratio used in this study did not play an important role on the CBZ-SAC Form I co-crystal formation for this system.Â Â Â
Structural elucidation of galactomannan from â€˜Petai Belalangâ€™(Leucaena leucocephala) and its modified analogue
Authors: Shirajuddin Shazlinda , Kamarun Dzaraini , Thomas Sabu 
Published: July 2024

Galactomannan (GM) is a biomoleculer polymer present as a storage carbohydrate in endosperm of many leguminous plant and fungal cell wall. Commercial GMs were obtained from plants such as guar gum (Cyamoposis tetragonolobus), locust beans (Ceratonia siliqua) and tara gum (Caesalpinia spinosa). In this project GM was extracted from seeds of a local plant â€˜petai belalangâ€™ scientifically known as Leucaena leucocephala. The GM was further conjugated with acryloyl groups for further crosslinking reactions. We report here the structural properties of the modified analogue of GM based on several spectroscopic techniques such as FTIR, NMR and XRD. The morphology of the galactomannan analogue (aGM) was identified from SEM images at several magnifications. We also included discussions on comparisons of the aGM from its parent structure. GM was successfully conjugated with the acryloyl group as verified by the presence of vinyl stretching bands and vinyl protons in the FTIR and H1 NMR spectrum of aGM respectively. This is supported with SEM images that show distribution of granules along the aGM surfaces as compared to a smooth surface of its parent compound. The successfulness of the conjugation process was further verified from data obtained from thermogravimetric analysis (TGA).Â Â
Nanocarnation-like Nickel Oxide Thin Film: Structural and Optical Properties
Authors: Parimon N. , H. Mamat M. , A. R. Abdullah M. , S. Ismail A. , R. W. Ahmad W. , B. Shameem Banu I. , Rusop M. 
Published: July 2024

Herein, the structural and optical properties of highly porous nanocarnation-like nickel oxide (NiO) thin film in possibility of sensing applications were reported. The highly porous nanocarnation-like NiO was grown on indium tin oxide (ITO) glass substrates by using sonicated sol-gel immersion process. The grown film was characterized in details to examine the structural and optical properties using field emission scanning electron microscopy (FESEM), X-ray diffraction (XRD), Raman spectroscopy, and ultravioletâ€“visibleâ€“near infrared (UV-vis-NIR) spectroscopy, respectively. The XRD pattern reveals that the grown nanocarnation-like NiO film has crystalline NiO with a cubic structure. The UV-vis-NIR spectrum demonstrates that the average transmittance value of the sample in the visible region is approximately 48 % transmission. The results showed that, in view of highly porous nanocarnation-like NiO structure exhibited a great influence on its possibility for sensing applications.Â Â