bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bilateral Adrenocortical Nodular Disease and Cushing's Syndrome
Authors: Bouys Lucas , Violon Florian , Louiset Estelle , Sibony Mathilde , Lefebvre Hervé , Bertherat Jérôme 
Published: June 2024

Abstract
Primary pigmented nodular adrenocortical disease (PPNAD) and bilateral macronodular adrenocortical disease (BMAD) are 2 forms of adrenocortical nodular diseases causing Cushing's syndrome but are 2 very distinct conditions. PPNAD, affecting mostly young patients with an almost constant severe Cushing's syndrome, is characterized by pigmented micronodules, usually less than 1 cm, not always visible on imaging. On the contrary, BMAD is predominantly diagnosed in the fifth and sixth decades, with highly variable degrees of cortisol excess, from mild autonomous cortisol secretion to overt Cushing's syndrome. BMAD presents as large bilateral adrenal macronodules, easily observed on imaging. Both diseases are often genetically determined: frequently PPNAD is observed in a multiple neoplasia syndrome, Carney complex, and a germline genetic defect is identified in around 80% of index cases, always affecting key actors of the cAMP/protein kinase A (PKA) pathway: mostly PRKAR1A, encoding the PKA 1-alpha regulatory subunit. On the other hand, BMAD appears mostly isolated, and 2 predisposing genes are known at present: ARMC5, accounting for around 20% of index cases, and the recently identified KDM1A, causing the rare presentation with food-dependent Cushing's syndrome, mediated by the ectopic expression of the glucose-dependent insulinotropic polypeptide receptor (GIPR) in adrenal nodules. GIPR was the first demonstrated receptor to illegitimately regulate cortisol secretion in nodular adrenocortical diseases, and a myriad of other receptors and paracrine signals were discovered afterward. The last 30 years were pivotal in the understanding of the genetics and pathophysiology of bilateral adrenocortical nodular diseases, leading to a personalized approach of these fascinating conditions.
Exogenous Glucagon-like Peptide 2 Counteracts Exogenous Cholecystokinin-induced Gallbladder Contraction in Healthy Men
Authors: Lange Andreas H , Hansen Nina L , Pedersen Miriam G , Nerild Henriette H , Rehfeld Jens F , Hartmann Bolette , Holst Jens J , Ellegaard Anne-Marie , Knop Filip K 
Published: June 2024

Abstract

Background and Objective
Studies in humans and mice have demonstrated that the gut hormone glucagon-like peptide 2 (GLP-2) promotes gallbladder relaxation and refilling. Here, we assessed the effect of exogenous GLP-2 on gallbladder motility in the fasted state of healthy men with and without infusion of the potent gallbladder-contracting hormone cholecystokinin (CCK).

Methods
In a randomized, double-blind, placebo-controlled, crossover study, 15 male participants (mean [SD]: age 24.7 [3.6] years; body mass index 22.9 [1.6] kg/m2) underwent 4 experimental days receiving 2 infusions on each day: either CCK (0.4 pmol × kg−1 × min−1, time 0-180 minutes) + GLP-2 (10 pmol × kg−1 × min−1, time 30-240 minutes), CCK + placebo, placebo + GLP-2, or placebo + placebo, respectively. Gallbladder volume was measured at baseline and throughout the 4-hour study day using ultrasonography.

Results
Compared to placebo + placebo, GLP-2 + placebo did not affect gallbladder volume, but when infused in combination with CCK, GLP-2 completely abolished the strong gallbladder-contracting effect seen during CCK + placebo infusion, restoring baseline levels of gallbladder volume.

Conclusion
Exogenous GLP-2 counteracts exogenous CCK-induced gallbladder emptying in healthy men, pointing to a possible therapeutic potential for GLP-2 as a relaxing modulator of gallbladder smooth muscle tone (eg, as a bridge to surgery in biliary colic). The effect may also explain the gallbladder-related adverse events reported for GLP-2 receptor agonists used in the treatment of short bowel syndrome.

Clinical Trial Registration number
NCT04651868
Effects of Genetic Risk on Incident Type 2 Diabetes and Glycemia: The T2D-GENE Lifestyle Intervention Trial
Authors: Lankinen Maria Anneli , Nuotio Petrus , Kauppinen Susanna , Koivu Noora , Tolonen Ulla , Malkki-Keinänen Katriina , Oravilahti Anniina , Kuulasmaa Teemu , Uusitupa Matti , Schwab Ursula , Laakso Markku 
Published: June 2024

Abstract

Context
Lifestyle intervention prevents or delays type 2 diabetes (T2D) in subjects at a high risk of T2D. However, it is not known whether genetic variants modify the effect on incident T2D during lifestyle intervention.

Objective
To investigate whether a low or high genetic risk has effects on incident T2D in a group-based lifestyle intervention study.

Methods
The T2D-GENE trial involved 973 men from the Metabolic Syndrome in Men (METSIM) cohort, aged 50-75 years, body mass index ≥25 kg/m2, fasting plasma glucose 5.6-6.9 mmol/L, hemoglobin A1c &lt; 48 mmol/mol, and either a low or high genetic risk score for T2D. There were 2 intervention groups, a low (n = 315) and high genetic risk for T2D (n = 313). They were provided with a 3-year group-based intervention with access to a web portal focused on healthy diet and physical activity. There were also corresponding population-based control groups at low (n = 196) and high (n = 149) genetic risk for T2D who had two laboratory visits (0 and 3 years) and general health advice as a part of their METSIM cohort protocol. The primary outcome was incident T2D, and a secondary outcome was glycemia.

Results
The intervention significantly lowered the risk of T2D among the participants with a high genetic risk for T2D [hazards ratio (HR) 0.30, 95% confidence interval (CI) 0.16-0.56, P &lt; .001) whereas in the low genetic risk group the effect was not significant (HR 0.69, 95% CI 0.36-1.32, P = .262). The intervention effect was not significantly different between the high and low genetic risk groups (P = .135). The intervention significantly ameliorated the worsening of glycemia and decreased weight both in the low and high genetic risk groups.

Conclusion
Our results showed that individuals with a high genetic risk for T2D benefitted from a low-cost group-based intervention focusing on healthy diet and physical activity. Therefore, all individuals at risk of T2D should be encouraged to make lifestyle changes regardless of genetic risk.
Approach to the Patient With Suspected Silver-Russell Syndrome
Authors: Kurup Uttara , Lim David B N , Palau Helena , Maharaj Avinaash V , Ishida Miho , Davies Justin H , Storr Helen L 
Published: June 2024

Abstract
Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. A score of ≥ 4/6 NH-CSS (or ≥ 3/6 with strong clinical suspicion) warrants (epi)genetic confirmation, identifiable in ∼60% patients. The approach to the investigation and diagnosis of SRS is detailed in the only international consensus guidance, published in 2016. In the intervening years, the clinical, biochemical, and (epi)genetic characteristics of SRS have rapidly expanded, largely attributable to advancing molecular genetic techniques and a greater awareness of related disorders. The most common etiologies of SRS remain loss of methylation of chromosome 11p15 (11p15LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Rarer causes of SRS include monogenic pathogenic variants in imprinted (CDKN1C and IGF2) and non-imprinted (PLAG1 and HMGA2) genes. Although the age-specific NH-CSS can identify more common molecular causes of SRS, its use in identifying monogenic causes is unclear. Preliminary data suggest that NH-CSS is poor at identifying many of these cases. Additionally, there has been increased recognition of conditions with phenotypes overlapping with SRS that may fulfill NH-CSS criteria but have distinct genetic etiologies and disease trajectories. This group of conditions is frequently overlooked and under-investigated, leading to no or delayed diagnosis. Like SRS, these conditions are multisystemic disorders requiring multidisciplinary care and tailored management strategies. Early identification is crucial to improve outcomes and reduce the major burden of the diagnostic odyssey for patients and families. This article aims to enable clinicians to identify key features of rarer causes of SRS and conditions with overlapping phenotypes, show a logical approach to the molecular investigation, and highlight the differences in clinical management strategies.
Polycystic Ovary Syndrome, Metabolic Syndrome, and Inflammation in the Hispanic Community Health Study/Study of Latinos
Authors: Rao Hridya C , Meyer Michelle L , Kominiarek Michelle A , Daviglus Martha L , Gallo Linda C , Cordero Christina , Syan Raveen , Perreira Krista M , Talavera Gregory A , Fernández-Rhodes Lindsay 
Published: June 2024

Abstract

Context
Polycystic ovary syndrome (PCOS) is a multifaceted endocrine disorder with reproductive and metabolic dysregulation. PCOS has been associated with inflammation and metabolic syndrome (MetS); however, the moderating effects of inflammation as measured by C-reactive protein (CRP) and menopause on the PCOS-MetS association have not been studied in Hispanic/Latinas with PCOS who have a higher metabolic burden.

Objective
We studied the cross-sectional association between PCOS and (1) MetS in 7316 females of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), (2) subcomponents of MetS including impaired fasting glucose (IFG) and elevated triglycerides (TGL), and (3) effect modification by menopausal status and CRP.

Design
The HCHS/SOL is a multicenter, longitudinal, and observational study of US Hispanic/Latinos. Our study sample included females from visit 2 with self-reported PCOS and MetS (ages 23-82 years).

Results
PCOS (prevalence = 18.8%) was significantly associated with MetS prevalence [odds ratio [odds ratio (OR) = 1.41 (95% confidence interval: 1.13-1.76)], IFG and TGL (OR = 1.42 (1.18-1.72), OR = 1.48 (1.20-1.83), respectively]. We observed effect modification by menopausal status (ORpre = 1.46, Pint = .02; ORpost = 1.34, Pint = .06) and CRP (ORelevated = 1.41, Pint = .04; ORnormal = 1.26, Pint = .16) on the PCOS-MetS association. We also observed a superadditive interaction between CRP and PCOS, adjusting for which resulted in an attenuated effect of PCOS on MetS (OR = 1.29 [0.93-1.78]).

Conclusion
Hispanic/Latino females with PCOS had higher odds of MetS, IFG, and elevated TGL than their peers without PCOS. Interaction analyses revealed that the odds of MetS are higher among PCOS females who have premenopausal status or high inflammation. Interventions in Hispanic/Latinas should target these outcomes for effective management of the disease.
Organisms have gravity: taking an organism-centered approach in experimental biology
Authors: Womack Molly C. , McKay Strobel Sarah , Phillips Jackson R. , Parreiras Julia S. , Grundler Maggie R. , Vredenburg Vance T. , Wake Marvalee H. 
Published: June 2024

ABSTRACT
When you take the time to observe another organism, there is a sort of gravity that can take hold, a mixture of curiosity and connection that expands and strengthens the more you interact with that organism. Yet, in research, a connection with one's study organism can, at times, feel countercultural. Study organisms are sometimes viewed more as tools to conveniently study biological questions. Here, we explicitly highlight the importance of organism-centered research not only in scientific discovery, but also in conservation and in the communication and perception of science.
Therapeutic efficacy of methylprednisolone sodium succinate via diverse administration routes for mid- to high-frequency sudden sensorineural hearing loss
Authors: Meng Xiang-Da , Li Ting-Ting , Deng Li-Min 
Published: June 2024

BACKGROUND
Sudden sensorineural hearing loss (SSNHL), characterized by a rapid and unexplained loss of hearing, particularly at moderate to high frequencies, presents a significant clinical challenge. The therapeutic use of methylprednisolone sodium succinate (MPSS) via different administration routes, in combination with conventional medications, remains a topic of interest.
AIM
To compare the therapeutic efficacy of MPSS administered via different routes in combination with conventional drugs for the treatment of mid- to high-frequency SSNHL.
METHODS
The medical records of 109 patients with mid- to high-frequency SSNHL were analyzed. The patients were divided into three groups based on the route of administration: Group A [intratympanic (IT) injection of MPSS combined with mecobalamin and Ginkgo biloba leaf extract injection], Group B (intravenous injection of MPSS combined with mecobalamin and Ginkgo biloba leaf extract injection), and Group C (single IT injection of MPSS). The intervention effects were compared and analyzed.
RESULTS
The posttreatment auditory thresholds in Group A (21.23 ± 3 .34) were significantly lower than those in Groups B (28.52 ± 3.36) and C (30.23 ± 4.21; P < 0.05). Group A also exhibited a significantly greater speech recognition rate (92.23 ± 5.34) than Groups B and C. The disappearance time of tinnitus, time to hearing recovery, and disappearance time of vertigo in Group A were significantly shorter than those in Groups B and C (P < 0.05). The total effective rate in Group A (97.56%) was significantly greater than that in Groups B and C (77.14% and 78.79%, χ 2 = 7.898, P = 0.019). Moreover, the incidence of adverse reactions in Groups A and C was significantly lower than that in Group B (4.88%, 3.03% vs 2.57%, χ 2 = 11.443, P = 0.003), and the recurrence rate in Group A was significantly lower than that in Groups B and C (2.44% vs 20.00% vs 21.21%, χ 2 = 7.120, P = 0.028).
CONCLUSION
IT injection of MPSS combined with conventional treatment demonstrates superior efficacy and safety compared to systemic administration via intravenous infusion and a single IT injection of MPSS. This approach effectively improves patients' hearing and reduces the risk of disease recurrence.
Follow-up study of gallbladder stones in 44 children
Authors: Yu Jian-Xiong , Jiang Zhi-Zhong , Cai Yuan-Hao , Zhou Lin , Cai Bin 
Published: June 2024

BACKGROUND
Cholesterol stones affect a certain subpopulation of children. Concerns have been raised on the impact of gallbladder surgery on the growth of children and adolescents.
AIM
To study the population characteristics, clinical features, treatment, and prognosis of gallstones in children.
METHODS
The clinical data of 44 children with gallstones admitted to The First Affiliated Hospital of Naval Medical University from August 2009 to August 2021 were collected, the children were followed up by telephone to monitor their prognoses. The follow-up ended in August 2023. The shortest follow-up time was 2 years and 6 months, whereas the longest was 13 years and 11 months. The population characteristics, general clinical characteristics, and treatments were retrospectively analyzed. The children were divided according to whether they underwent surgical gallbladder removal into an operation group (n = 28) and a non-operation group (n = 16), The effects of surgical gallbladder resection on the growth and development of children were analyzed.
RESULTS
The male–female ratio in the population was 6:5 and 84.09% of the children had onset in adolescence. Furthermore, 29.55% of the children were overweight or obese. The study identified 26 cases with metabolic abnormalities, 9 with hemolytic anemia, and 4 with choledochal cyst. Of the population, 68.18% had recurrent symptomatic cholecystolithiasis. Surgical treatment accounted for 63.64%, with laparoscopic cholecystectomy accounting for 71.43% of surgical treatment. No significant differences were observed in symptoms and complications between the surgery and non-surgery groups. Furthermore, no significant differences were found between the two groups in the attainment of genetic height target and the rightward shift of height curve during follow-up.
CONCLUSION
The sex characteristics of gallstones in children were not observed. Most gallstones occurred in adolescents and rarely in young children. A considerable proportion of children have inborn causes, which are often concurrent with metabolic abnormalities and hemolytic anemia. Most children had recurrent symptomatic gallstones. Surgical treatment, especially laparoscopic cholecystectomy, is still the main treatment for gallstones in children. Surgical treatment did not affect the growth and development of children who underwent gallstone removal.
Effects of acetylcysteine on micro-inflammation and pulmonary ventilation in chronic obstructive pulmonary disease exacerbation
Authors: Huang Li-Yuan , Huang Bin , Lv Zheng , Lu Xiao-Dan 
Published: June 2024

BACKGROUND
Acute exacerbation of chronic obstructive pulmonary disease (AECOPD) is a serious complication of chronic obstructive pulmonary disease, often characterized by increased morbidity and mortality. In traditional Chinese medicine, AECOPD is linked to phlegm-heat and blood-stasis, presenting symptoms like thick sputum, fever, and chest pain. It has been shown that acetylcysteine inhalation in conjunction with conventional therapy significantly reduced inflammatory markers and improved lung function parameters in patients with AECOPD, suggesting that acetylcysteine may be an important adjunctive therapy for patients with phlegm-heat-blood stasis type AECOPD.
AIM
To investigate the effect of acetylcysteine on microinflammation and lung ventilation in patients with phlegm-heat and blood-stasis-type AECOPD.
METHODS
One hundred patients with phlegm-heat and blood-stasis-type AECOPD were randomly assigned to two groups. The treatment group received acetylcysteine inhalation (10% solution, 5 mL, twice daily) along with conventional therapy, whereas the control group received only conventional therapy. The treatment duration was 14 d. Inflammatory markers (C-reactive protein, interleukin-6, and tumor necrosis factor-alpha) in the serum and sputum as well as lung function parameters (forced expiratory volume in one second, forced vital capacity, and peak expiratory flow) were assessed pre- and post-treatment. Acetylcysteine inhalation led to significant reductions in inflammatory markers and improvements in lung function parameters compared to those in the control group (P < 0.05). This suggests that acetylcysteine could serve as an effective adjunct therapy for patients with phlegm-heat and blood-stasis-type AECOPD.
RESULTS
Acetylcysteine inhalation significantly reduced inflammatory markers in the serum and sputum and improved lung ventilation function parameters in patients with phlegm-heat and blood-stasis type AECOPD compared with the control group. These differences were statistically significant (P < 0.05). The study concluded that acetylcysteine inhalation had a positive effect on microinflammation and lung ventilation function in patients with this type of AECOPD, suggesting its potential as an adjuvant therapy for such cases.
CONCLUSION
Acetylcysteine inhalation demonstrated significant improvements in reducing inflammatory markers in the serum and sputum, as well as enhancing lung ventilation function parameters in patients with phlegm-heat and blood-stasis type AECOPD. These findings suggest that acetylcysteine could serve as a valuable adjuvant therapy for individuals with this specific type of AECOPD, offering benefits for managing microinflammation and optimizing lung function.
Tennis ball cord combined with endoscopy for giant gastric phytobezoar: A case report
Authors: Shu Juan , Zhang Heng 
Published: June 2024

BACKGROUND
Due to the specificity of Chinese food types, gastric phytobezoars are relatively common in China. Most gastric phytobezoars can be removed by chemical enzyme lysis and endoscopic fragmentation, but the treatment for large phytobezoars is limited, and surgical procedures are often required for this difficult problem.
CASE SUMMARY
For giant gastric phytobezoars that cannot be dissolved and fragmented by conventional treatment, we have invented a new lithotripsy technique (tennis ball cord combined with endoscopy) for these phytobezoars. This non-interventional treatment was successful in a patient whose abdominal pain was immediately relieved, and the gastroscope-induced ulcer healed well 3 d after lithotripsy. The patient was followed-up for 8 wk postoperatively and showed no discomfort such as abdominal pain.
CONCLUSION
The combination of tennis ball cord and endoscopy for the treatment of giant gastric phytobezoars is feasible and showed high safety and effectiveness, and can be widely applied in hospitals of all sizes.
Estudio de las interacciones farmacológicas detectadas durante actos de dispensación en farmacia comunitaria. Elaboración de protocolos de actuación. Laguna de duero. Febrero a julio de 2023
Authors: García Andrés , Del Villar María 
Published: June 2024

El problema de las interacciones farmacológicas en la población geriátrica es crucial debido al fenómeno de la polimedicación, que aumenta significativamente el riesgo de ocurrencia. La integración de bases de datos y herramientas de detección de interacciones farmacológicas en los programas de gestión utilizados en las oficinas de farmacia facilita la visualización de este PRM en el proceso de dispensación. Sin embargo, hemos de considerar que los medicamentos dispensados en un solo acto no siempre constituyen la totalidad del tratamiento utilizado por el paciente, por lo que, para realizar un análisis completo, es necesario visualizar la farmacoterapia completa del mismo en ese momento. El estudio se enfoca en los residentes de un centro geriátrico (74 individuos). Durante el período de estudio se analizaron tanto las dispensaciones de medicamentos realizadas durante tres meses y medio como la farmacoterapia completa de los mismos, utilizando un código de colores para clasificar las interacciones según la actuación requerida por parte del farmacéutico. Después de analizar los resultados se concluyó: 1. La probabilidad de que un paciente presente al menos una interacción farmacológica es muy elevada (71,23 % en el estudio). 2. La detección de interacciones en los actos de dispensación es más efectiva cuanto mayor sea el número de medicamentos implicados. 3. Las interacciones pueden permanecer ocultas en la práctica diaria si no se realiza un estudio de la farmacoterapia completa.
Impact of low‐load resistance exercise with and without blood flow restriction on muscle strength, endurance, and oxidative capacity: A pilot study
Authors: Davis Brett H. , Stampley James E. , Granger Joshua , Scott Matthew C. , Allerton Timothy D. , Johannsen Neil M. , Spielmann Guillaume , Irving Brian A. 
Published: June 2024

AbstractLow‐load resistance exercise (LLRE) to failure can increase muscle mass, strength, endurance, and mitochondrial oxidative capacity (OXPHOS). However, the impact of adding blood flow restriction to low‐load resistance exercise (LLBFR) when matched for volume on these outcomes is incompletely understood. This pilot study examined the impact of 6 weeks of single‐legged LLBFR and volume‐matched LLRE on thigh bone‐free lean mass, strength, endurance, and mitochondrial OXPHOS. Twenty (12 males and 8 females) untrained young adults (mean ± SD; 21 ± 2 years, 168 ± 11 cm, 68 ± 12 kg) completed 6 weeks of either single‐legged LLBFR or volume‐matched LLRE. Participants performed four sets of 30, 15, 15, and 15 repetitions at 25% 1‐RM of leg press and knee extension with or without BFR three times per week. LLBFR increased knee extension 1‐RM, knee extension endurance, and thigh bone‐free lean mass relative to control (all p < 0.05). LLRE increased leg press and knee extension 1‐RM relative to control (p = 0.012 and p = 0.054, respectively). LLRE also increased mitochondrial OXPHOS (p = 0.047 (nonparametric)). Our study showed that LLBFR increased muscle strength, muscle endurance, and thigh bone‐free lean mass in the absence of improvements in mitochondrial OXPHOS. LLRE improved muscle strength and mitochondrial OXPHOS in the absence of improvements in thigh bone‐free lean mass or muscle endurance.