bluuebunny/crossref_metadata_2025_split huggingface dataset:
ASO silencing of a glycosyltransferase, Poglut1, improves the liver phenotypes in mouse models of Alagille syndrome
Authors: Niknejad Nima , Fox Duncan , Burwinkel Jennifer L. , Zarrin-Khameh Neda , Cho Soomin , Soriano Armand , Cast Ashley E. , Lopez Mario F. , Huppert Kari A. , Rigo Frank , Huppert Stacey S. , Jafar-Nejad Paymaan , Jafar-Nejad Hamed 
Published: April 2023

Background and Aims:
Paucity of intrahepatic bile ducts (BDs) is caused by various etiologies and often leads to cholestatic liver disease. For example, in patients with Alagille syndrome (ALGS), which is a genetic disease primarily caused by mutations in jagged 1 (JAG1), BD paucity often results in severe cholestasis and liver damage. However, no mechanism-based therapy exists to restore the biliary system in ALGS or other diseases associated with BD paucity. Based on previous genetic observations, we investigated whether postnatal knockdown of the glycosyltransferase gene protein O-glucosyltransferase 1 (Poglut1) can improve the ALGS liver phenotypes in several mouse models generated by removing one copy of Jag1 in the germline with or without reducing the gene dosage of sex-determining region Y-box 9 in the liver.

Approach and Results:
Using an ASO established in this study, we show that reducing Poglut1 levels in postnatal livers of ALGS mouse models with moderate to profound biliary abnormalities can significantly improve BD development and biliary tree formation. Importantly, ASO injections prevent liver damage in these models without adverse effects. Furthermore, ASO-mediated Poglut1 knockdown improves biliary tree formation in a different mouse model with no Jag1 mutations. Cell-based signaling assays indicate that reducing POGLUT1 levels or mutating POGLUT1 modification sites on JAG1 increases JAG1 protein level and JAG1-mediated signaling, suggesting a likely mechanism for the observed in vivo rescue.

Conclusions:
Our preclinical studies establish ASO-mediated POGLUT1 knockdown as a potential therapeutic strategy for ALGS liver disease and possibly other diseases associated with BD paucity.
Global and national prevalence of nonalcoholic fatty liver disease in adolescents: An analysis of the global burden of disease study 2019
Authors: Hartmann Phillipp , Zhang Xinlian , Loomba Rohit , Schnabl Bernd 
Published: April 2023

Background and Aims:
NAFLD in adolescents is an increasing health crisis worldwide, but its exact global, continental, and national prevalence, its relationship with other metabolic conditions, and the human development index (HDI) globally are not known.

Approach and Results:
We analyzed data from the Global Burden of Disease Study 2019 to compare global, continental, and national prevalence rates of adolescent NAFLD and associations with other metabolic conditions and HDI. The global NAFLD prevalence in adolescents increased from 3.73% in 1990 to 4.71% in 2019 (a relative increase of 26.27%). The prevalence for the male and female populations was 5.84% and 3.52% in 2019, respectively. The Oceanian and North American continents had the highest adolescent NAFLD prevalence (median: 6.54% and 5.64%, respectively), whereas Europe had the lowest prevalence (median: 3.98%). South America and North America had the highest relative increase in adolescent NAFLD prevalence from 1990 to 2019 (median: 39.25% and 36.87%, respectively). High body mass index and type 2 diabetes mellitus increased significantly in adolescents worldwide. However, only high body mass index and not type 2 diabetes mellitus correlated with NAFLD prevalence in adolescents globally. Countries with a higher HDI had larger increases in adolescent NAFLD prevalence from 1990 to 2019 although countries with the highest HDI (HDI: > 0.9) had the lowest NAFLD prevalence in 2019.

Conclusions:
NAFLD in adolescents is an increasing health problem on all continents. Improving environmental factors, including lifestyle but also healthcare policies, can help to prevent NAFLD from developing in children and adolescents and help to improve outcomes in children and adolescents with NAFLD.
Excimer Laser 308 nm
Authors: Dhillon Soneet , Lake Eden 
Published: April 2023

ABSTRACT
The excimer laser delivers targeted ultraviolet radiation at 308 nm, useful for delivering targeted phototherapy. It can also be useful in treating difficult-to-reach treatment sites while minimizing radiation exposure to surrounding skin. The excimer laser has been FDA approved for treatment of inflammatory skin conditions. This review summarizes excimer laser applications and advantages over other narrowband UVB and other phototherapy treatments.
Unusual initial presentation of childhood acute lymphoblastic leukemia as massive ascites and pleural effusion in post-COVID-19 setting: a case report
Authors: Shrateh Oadi N. , Jobran Afnan W.M. , Owienah Haneen , Adwan Rabee , Dwikat Yasmin , Najajreh Mohammad 
Published: April 2023

Introduction:
Acute lymphoblastic leukemia (ALL) in children typically presents with nonspecific manifestations such as fever, fatigue, lethargy, joint and bone pain, and bleeding diathesis. Ascites and pleural effusion as an initial presentation of ALL, although described, is exceedingly rare. However, this unusual initial presentation becomes much rarer in the post-coronavirus disease 2019 (COVID-19) setting. Herein, we aim to highlight such a rare initial presentation of childhood ALL that warrants clinical attention.

Case Presentation:
Two months following a COVID-19 infection, a 3-year-old male patient presented to the hospital with severe abdominal distention associated with occasional dyspnea. Physical assessment revealed a critically ill and pale patient with a distended abdomen and decreased air entry on the right side of the chest. Laboratory testing showed pancytopenia. Imaging studies confirmed the presence of massive ascites and pleural effusion. Bone marrow aspiration revealed CD10-positive pre-B-cell ALL. The patient was treated with chemotherapy and achieved complete remission.

Conclusion:
Rare manifestations of relatively common diseases create a barrier to prompt and effective detection and medical intervention. Although ascites and pleural effusion are rare conditions in ALL children patients, the occurrence of these pathologies in this particular patient, especially following COVID-19 infection, is an exceedingly rare event.
Large pineal parenchymal tumor of intermediate differentiation causing compression with resultant obstructive hydrocephalus: a case report
Authors: Shrateh Oadi N. , Jobran Afnan W.M. , Owienah Haneen , Sweileh Thaer , Abulihya Mohand , Shahin Nadeem , Atawnah Yazan , Kharousha Abdalwahab , Dababseh Hadi , Hussein Sami 
Published: April 2023

Introduction:
The epithalamus region contains the tiny, functionally endocrine pineal gland, which has the shape of a pinecone. Less than 1% of adult primary intracranial malignancies are pineal parenchymal tumors, which are incredibly uncommon brain tumors. A rare variety of pineal parenchymal tumors are those with intermediate differentiation. These tumors, whose namesake refers to a malignant pineal parenchymal tumor, are intermediate between pineoblastomas and pineocytomas (a benign pineal parenchymal tumor).

Case Presentation:
A female patient, age 13, who had been experiencing terrible headaches on and off for a month, went to the emergency room. Along with the headache, she experienced nausea, vomiting, dizziness, and blurred eyesight. A nonenhanced computed tomography scan was used for the initial brain neuroimaging, which showed a hypodense mass posterior to the midbrain and superior to the cerebellum. A heterogeneous bulk was visible on MRI.

Clinical Outcome:
The headache, vertigo, visual disturbance, nausea, and vomiting have all improved, according to the patient. Both postoperative MRIs with and without contrast revealed the resolution of the obstructive hydrocephalus and the absence of any residual enhancing mass. The patient was followed up for 2 months without any complications or adverse events.

Conclusion:
One should carefully investigate a headache as the early symptom of many illnesses and rule out any other potential causes. This would therefore enable us to create a management structure for such a very unusual malignancy.
Solitary giant neurofibroma of the knee: a case report
Authors: Lachkar Adnane , El Farhaoui Amine , Najib Abdeljaouad , Yacoubi Hicham 
Published: April 2023

Introduction:
Solitary neurofibroma is a rare tumor that occurs particularly in the head and trunk. It is mostly small and rarely exceeds 2 cm.

Case Report:
A 61-year-old female patient complained about an increasingly extended mass with pain in the right knee for about 14 months. Physical examination reveals a big, solid mass in front of the medial condyle, measuring about 14×12 cm. Tinel’s sign was positive on mass percussion. MRI showed a well-circumscribed oval mass with low signal on T1 and high signal on T2-weighted images. A surgical biopsy was performed, and immunohistochemistry confirmed the diagnosis of solitary neurofibroma. Surgical excisions were performed with good outcomes.

Discussion:
A giant solitary neurofibroma is exceptional. The knee location is even rarer. Immunohistochemistry is the only way to confirm the diagnosis.

Conclusion:
Giant neurofibromas need a complete surgical excision. Until today, there were no other alternative therapies for these tumors.
Small bowel obstruction caused by massive ascariasis: two case reports
Authors: Ali Abdullahi Y. , Mohamed Abdi Abdishakur , Mambet Ervin 
Published: April 2023

Introduction and importance:

Ascaris lumbricoides is an infestation that affects approximately one-seventh of the world’s population. Ascaris lumbricoides is a common inhabitant of the intestines of people with low-socioeconomic incomes, especially in underdeveloped countries of the world. Ascaris lumbricoides infestation is more prone to infestation with serious complications such as intestinal obstruction, volvulus, intussusception, and intestinal necrosis at higher rates in children than in adults.

Case presentation:
The authors present here two cases of small bowel obstruction caused by massive Ascaris lumbricoides that were admitted to the pediatric surgery service after completing a clinical and physical examination, and we operated after rehydration. Both underwent surgical resection with an end-to-end anastomosis. The patient was discharged uneventfully with a plan for de-worming treatment in 6 weeks.

Clinical discussion:
Ascariasis is a round intestinal worm infestation transmitted by fecal or oral contamination. Eating and excreting ascaris eggs lead to ascariasis and excrete human feces, which contaminate foods, soil, and/or water in unsanitary environments. In contrast, in the first case of this study, the diagnosis was made by ultrasound and erect abdominal radiography, and, in the second case, an abdominal ultrasound result was equivocal and required an abdominal computed tomography scan for confirmation. Treatment of small bowel obstruction by roundworms is usually surgical, but in the absence of signs of peritonitis, medical management can give effective results, even in the case of total obstruction.

Conclusion:
The type of surgery undertaken is determined by the results of the laparotomy. If the bowel was found to be intact and the obstruction was at the ileum level, milking worms to the cecum can be done with caution to avoid trauma to the bowel wall. Primary anastomosis after resection of a necrotic bowel segment and removal of the worm bolus is a suitable method for treatment of the ascariasis obstruction.
Autoimmune polyglandular syndrome type 2 and recurrent depression
Authors: Elsayed Mohamed , Negm Eman , Gahr Maximilian , Schönfeldt-Lecuona Carlos 
Published: April 2023

Introduction and importance:
Autoimmune polyglandular syndrome type 2 (APS-2) features autoimmune Addison’s disease, autoimmune thyroid disease, and/or type 1 diabetes mellitus. Addison’s disease is occasionally associated with depressive symptoms, therefore patients with APS-2 might present primarily in a psychiatric clinic. Such atypical primary presentation can possibly lead to delayed and/or inadequate diagnosis and management.

Case presentation:
A 57-year-old female patient was referred to our psychiatric clinic from an internal medicine hospital presenting severe depressive symptoms. Upon admission, she complained of sadness, loss of interest (anhedonia) and drive, nausea, and loss of appetite. Physical examination revealed generalized hyperpigmentation. Laboratory investigations revealed hyponatremia, hypocalcemia, macrocytic anemia along with treated hypothyroidism, and partially treated adrenal insufficiency.

Clinical discussion:
A diagnosis of the APS-2 was made. Electroconvulsive therapy (ECT) was mandatory and a complete regression of the affective symptoms was achieved.

Conclusion:
Organic workout in psychiatry is essential to detect diseases symptomatically or semiologically related to depression. In our case, hyperpigmentation, hypothyroidism, and adrenal insufficiency linked to depressive symptoms led to APS-2 diagnosis. ECT was challenging due to the avoidance of etomidate by the anesthesiologists, due to adrenal insufficiency. The adjustment of ECTs’ energy dosage (to avoid too short and ineffective seizures) and optimization of adrenal and thyroid function was essential to reverse the severe depressive syndrome.
Guillain-Barré syndrome complicating early pregnancy: a case report from Nepal
Authors: Aryal Roshan , Adhikari Aayush , Jha Kritika , Deo Bikash , Kafle Yashaswi , Ojha Rajeev 
Published: April 2023

Introduction and Importance:Guillain-Barré syndrome (GBS) is an immunological demyelinating disorder characterized by progressive, ascending flaccid weakness, usually resulting after infection or some immune stimulation. Its occurrence during pregnancy is rare and due to attribution of its symptoms to pregnancy, diagnosis might be delayed.Case Presentation:A 39-year-old G4P3L2A0 woman at 13 weeks 6 days period of gestation presented with acute, symmetrical, ascending type of flaccid quadriparesis leading to slurring of speech, swallowing difficulty, and eventually respiratory failure. With the diagnosis of GBS, she was admitted to the intensive care unit, five sessions of plasma exchange were done along with physiotherapy and her symptoms started improving. After discharge she was on regular antenatal care visits and eventually, she delivered a healthy baby at term with an uneventful labor event and postpartum period.Clinical Discussion:There is a huge maternal-fetal risk of respiratory failure, aspiration pneumonia, preterm delivery, possible use of forceps or vacuum, and operative interference due to GBS in pregnancy, whose causative agents are similar to that of the general population. The swinging pattern of risk of GBS in pregnancy might be due to immunological changes with predominant Th2 response seen in pregnancy. Treatment measures are similar as in the general population with initial symptomatic care and administration of disease-specific therapy later which consists of intravenous immunoglobulin and/or plasmapheresis.Conclusion:A well-timed diagnosis of GBS in pregnancy might allow successful management with the help of intensive monitoring with or without immunotherapy.
The assessment of dietary diversity score and associated factors among pregnant women of Batu district, Southern Ethiopia, 2021: a community-based cross-sectional study
Authors: Getahun Genanew K. , Ahmed Sindew M. , Degif Abinet B. , Haile Mekonnen G. 
Published: April 2023

Background:
Malnutrition remains a global problem, particularly in sub-Saharan Africa, where Ethiopia is located. During pregnancy, inadequate nutritional diversification increases the risk of unfavorable maternal and fetal outcomes. Therefore, the aim of this study was to assess the dietary diversity score and associated factors among pregnant women in Batu district, Southern Ethiopia, in 2021.

Methods:
A community-based cross-sectional study was conducted among randomly selected 594 pregnant women. Data were collected with a two-stage sampling technique through face-to-face interviews. The data were coded and entered into Statistical Package for the Social Sciences (SPSS) version 23. Bivariate and multivariable logistic regression analyses were applied to identify independent predictors of dietary diversity.

Results:
The magnitude of the unmet minimum dietary diversity score among pregnant women was 356 (59.9%). Furthermore, pregnant women with no formal education [adjusted odds ratio (AOR)=3.46; 95% CI: 1.99, 5.66], poor by the wealth index (AOR=2.23, 95% CI: 1.33, 3.73), having five or more children (AOR=1.75, 95% CI: 1.14, 2.71), multigravida (AOR=2.18, 95% CI: 1.34, 3.56), and pregnant women from only male-headed households (AOR=4.46, 95% CI: 2.86, 6.94) were associated with an unmet minimum dietary diversity score among pregnant women.

Conclusion:
The prevalence of unmet minimum dietary diversity scores among pregnant women was found to be high. Moreover, low dietary diversity was linked to pregnant women with no formal education, multigravida, having more than five family members, male-headed households, and being poor by household wealth. As a result, nutritional diversity education should be prioritized, and health experts should provide guidance on dietary diversity and family planning services.
Amniotic band syndrome leading to severe malformations of the newborn: a case report at Tu Du Hospital, Vietnam, and literature review
Authors: Phan Trung Hoa , Thi Nguyen Phuong Tu , Nguyen Phuc Nhon , Pham Huy Hoa , Ngo Quang Dao , La Nguyen Phuong Thanh 
Published: April 2023

Introduction and Importance:
Amniotic band syndrome (ABS) refers to fibrous bands that appear to entangle various fetal parts in utero, leading to deformation, malformation, or disruption. To alleviate implementation of this diverse malformation, an early diagnosis on ultrasound is necessary to explain to the patient, thus, avoiding psychological shock and requiring timely intervention.

Case Presentation:
In the present case report, the authors describe a case of ABS that was diagnosed at the time of delivery at full term. Although the male newborn was alive, the infant underwent the distal deformity of amputated limbs and clubfoot. He has currently been followed up for the reconstruction treatment.

Clinical Discussion:
ABS remains a challenging diagnosis for obstetricians following the onset timepoint. A prenatal ultrasound scan is carefully required to detect the morphologic abnormalities of the fetus. Postnatal management should be integrated by a multidisciplinary team in order to improve the infant’s outcome.

Conclusion:
ABS is an extremely dangerous entity during pregnancy, which leads to poor outcomes for the infant. An early detection on ultrasound helps in preparing better for the acceptance of the mother and the family as well as the prognosis afterwards.
Risk factors for fall among the elderly with diabetes mellitus type 2 in Jeddah, Saudi Arabia, 2022: a cross-sectional study
Authors: Alasmari Rami S. , Hassani Hattan A. , Almalky Nawwaf A. , Bokhari Abdullah F. , Al Zahrani Abdullah , Hafez Alwalied A. 
Published: April 2023

Background:
Diabetes mellitus type 2 is a major chronic condition that is considered common among elderly people, with multiple potential complications that could contribute to falls. However, this concept is not well understood; thus, the aim of this study is to estimate the prevalence of falls among diabetes patients.

Methods:
In this observational cross-sectional study, 309 diabetic patients aged 60 years or more who visited the primary healthcare centers of the Ministry of National Guard – Health Affairs in Jeddah were chosen via convenience sampling method. To collect the data, a structured Fall Risk Assessment questionnaire and Fall Efficacy Score scale were used.

Results:
The mean age of the participants was estimated to be 68.5 (SD: 7.4) years. Among the participants, 48.2% have fallen before, and 63.1% of them suffered falls in the past 12 months. The results showed that gait problems were independently associated with a higher likelihood of falls among elderly patients [odds ratio (OR)=1.98; 95% CI: 1.08–3.62; P=0.026]. Based on the linear regression analysis, we identified the following risk factors for lower falls efficacy: having gait problems (β=12.50; 95% CI: 7.38–17.6; P<0.001), balance difficulties (β=6.58; 95% CI: 1.35–11.8; P=0.014), and neurological/cognitive impairments (β=9.62; 95% CI: 3.89–15.4; P=0.001), as well as having poor sleep quality (β=8.11, 95% CI: 3.32–12.9; P<0.001).

Conclusion:
This paper suggests that diabetes mellitus is an independent fall risk factor among the elderly. Therefore, identifying such patients as being at higher risk and prompt referral to a specialist falls clinic is recommended.
Human Surfactant Protein A Alleviates SARS-CoV-2 Infectivity in Human Lung Epithelial Cells
Authors: Jacob Ikechukwu B , Gemmiti Amanda , Xiong Weichuan , Reynolds Erin , Nicholas Brian , Thangamani Saravanan , Jia Hongpeng , Wang Guirong 
Published: April 2023

AbstractSARS coronavirus 2 (SARS-CoV-2) infects human angiotensin-converting enzyme 2 (hACE2)-expressing lung epithelial cells through its spike (S) protein. The S protein is highly glycosylated and could be a target for lectins. Surfactant protein A (SP-A) is a collagen-containing C-type lectin, expressed by mucosal epithelial cells and mediates its antiviral activities by binding to viral glycoproteins. This study examined the mechanistic role of human SP-A in SARS-CoV-2 infectivity. The interactions between human SP-A and SARS-CoV-2 S protein and hACE2 receptor, and SP-A level in COVID-19 patients were assessed by ELISA. The effect of SP-A on SARS-CoV-2 infectivity was analyzed by infecting human lung epithelial cells (A549-ACE2) with pseudoviral particles and infectious SARS-CoV-2 (Delta variant) pre-incubated with SP-A. Virus binding, entry, and infectivity were assessed by RT-qPCR, immunoblotting, and plaque assay. The results showed that human SP-A can bind SARS-CoV-2 S protein/RBD and hACE2 in a dose-dependent manner (p<0.01). Human SP-A inhibited virus binding and entry, and reduce viral load in lung epithelial cells, evidenced by the dose-dependent decrease in viral RNA, nucleocapsid protein, and titer (p<0.01). Increased SP-A level was observed in the saliva of COVID-19 patients compared to healthy controls (p<0.05), but severe COVID-19 patients had relatively lower SP-A levels than moderate COVID-19 patients (p<0.05). Therefore, SP-A plays an important role in mucosal innate immunity against SARS-CoV-2 infectivity by directly binding to the S protein and inhibiting its infectivity in host cells. SP-A level in the saliva of COVID-19 patients might serve as a biomarker for COVID-19 severity.