2,331 results match your criteria slight deficiency


Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese minorities: Two case reports.

Medicine (Baltimore) 2021 Apr;100(16):e25527

Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics.

Rationale: Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by thrombocytopenia, small platelets, eczema, immunodeficiency, and an increased risk of autoimmunity and malignancies. X-linked thrombocytopenia (XLT), the milder phenotype of WAS, is always limited to thrombocytopenia with absent or slight infections and eczema. Here, we illustrated the clinical and molecular characteristics of 2 unrelated patients with WAS from Chinese minorities. Read More

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Evaluation of Initial Stress Distribution and Displacement Pattern of Craniofacial Structures with 3 Different Rapid Maxillary Expansion Appliance Models: A 3-dimensional Finite Element Analysis.

Turk J Orthod 2021 1;34(1):18-25. Epub 2021 Mar 1.

Department of Orthodontics, Faculty of Dentistry, Altinbas University, Istanbul, Turkey.

Objective: This study aimed to describe the displacement of anatomical structures and the stress distributions caused by the Hyrax, fan-type, and double-hinged expansion screws via the 3-dimensional (3D) finite element method (FEM).

Methods: The 3D FEM was based on the computed tomography data of a 12-year-old patient with a constricted maxilla. The Hyrax model included 1,800,981 tetrahedral elements with 2,758,217 nodes. Read More

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Do standard optometric measures predict binocular coordination during reading?

J Eye Mov Res 2021 Jan 21;13(6). Epub 2021 Jan 21.

Institute of Optometry, University of Applied Sciences, Northwestern Switzerland.

In reading, binocular eye movements are required for optimal visual processing and thus, in case of asthenopia or reading problems, standard orthoptic and optometric routines check individual binocular vision by a variety of tests. The present study therefore examines the predictive value of such standard measures of heterophoria, accommodative and vergence facility, AC/A-ratio, NPC and symptoms for binocular coordination parameters during read-ing. Binocular eye movements were recorded (EyeLink II) for 65 volunteers during a typical reading task and linear regression analyses related all parameters of binocular coordination to all above-mentioned optometric measures: while saccade disconjugacy was weakly pre-dicted by vergence facility (15% explained variance), vergence facility, AC/A and symp-toms scores predicted vergence drift (31%). Read More

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January 2021

Acute and subacute toxicity assessment of Madhulai Manappagu (Siddha herbal syrup formulation) in animal model.

J Complement Integr Med 2021 Apr 5. Epub 2021 Apr 5.

National Institute of Siddha, Chennai, India.

Objectives: Madhulai Manappagu - a well-known sastric and widely prescribed Siddha herbal syrup formulation indicated for treating Veluppu Noi (Anaemia especially Iron deficiency Anaemia) has been in day today practice in Tamil Nadu for a quite longer decades. The syrup is a herbal preparation which has a sweet pleasant odour and a palatable taste, contain the juice of pomegranate ( L.) as the main ingredient. Read More

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Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells.

Int J Mol Sci 2021 Mar 9;22(5). Epub 2021 Mar 9.

United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan.

We performed a comparative analysis of two ER-resident CREB3 family proteins, CREB3 and CREB3L2, in HEK293 cells using pharmacological and genome editing approaches and identified several differences between the two. Treatment with brefeldin A (BFA) and monensin induced the cleavage of full-length CREB3 and CREB3L2; however, the level of the full-length CREB3 protein, but not CREB3L2 protein, was not noticeably reduced by the monensin treatment. On the other hand, treatment with tunicamycin (Tm) shifted the molecular weight of the full-length CREB3L2 protein downward but abolished CREB3 protein expression. Read More

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Development of an ethogram/guide for identifying feline emotions: a new approach to feline interactions and welfare assessment in practice.

Ir Vet J 2021 Mar 25;74(1). Epub 2021 Mar 25.

School of Veterinary Medicine, University College Dublin, Dublin, Ireland.

Background: An accurate assessment of feline behaviour is essential in reducing the risk of handler injury and evaluating/improving feline welfare within veterinary practices. However, inexperience and/or suboptimal education in feline behaviour may cause many veterinary professionals to be ill equipped for this. In addition, busy veterinary professionals may not have time to thoroughly search the literature to remediate this deficiency. Read More

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Low energy availability and impact sport participation as risk factors for urinary incontinence in female athletes.

J Pediatr Urol 2021 Jan 30. Epub 2021 Jan 30.

Division of Sports Medicine, Department of Orthopedics, Boston Children's Hospital, 319 Longwood Avenue, Ste 6, Boston, MA, 02115, USA; Harvard Medical School, 25 Shattuck St, Boston, MA, 02115, USA; Neuroendocrine Unit, Massachusetts General Hospital, 55 Fruit Street, 457B, Boston, MA, 02114, USA. Electronic address:

Introduction: Relative Energy Deficiency in Sport (RED-S) is a clinical syndrome that includes the many complex health and performance consequences of low energy availability (EA) in athletes, when there is insufficient caloric intake to meet exercise-related energy expenditure and to support basic physiologic functions. There is a high prevalence of urinary incontinence (UI) in female athletes and it is more common in female athletes than non-athletes. The objective of this study was to determine if low EA is associated with UI in a population of adolescent and young adult female athletes and to evaluate for an association between sport categories and UI. Read More

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January 2021

Coronavirus infection in hip fractures (CHIP) study.

Bone Joint J 2021 Apr 28;103-B(4):782-787. Epub 2021 Jan 28.

The Countess of Chester NHS Foundation Trust, Chester, UK.

Aims: Despite the COVID-19 pandemic, incidence of hip fracture has not changed. Evidence has shown increased mortality rates associated with COVID-19 infection. However, little is known about the outcomes of COVID-19 negative patients in a pandemic environment. Read More

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Fresh frozen plasma prime and the level of gammaglobulin after pediatric cardiopulmonary bypass.

Am J Clin Exp Immunol 2020 15;9(5):91-100. Epub 2020 Dec 15.

Department of Pediatric Cardiac Surgery, Children's Medical Center, Tehran University of Medical Sciences Tehran, Iran.

Different organ perturbation and multiple complications might occur after cardiopulmonary bypass (CPB). A variety of solutions might be used for pump priming with different advantages and disadvantages. The advantage of fresh frozen plasma (FFP) inclusion in pump prime has been shown in post-CPB coagulation management. Read More

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December 2020

Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.

Front Genet 2020 7;11:594828. Epub 2021 Jan 7.

Department of Chemistry, Institute for Biochemistry, University of Cologne, Cologne, Germany.

Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlying MoCD is the loss of function of sulfite oxidase (SO), a molybdenum cofactor (Moco) dependent enzyme located in mitochondrial intermembrane space. Read More

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January 2021

Changes of androgens levels in menopausal women.

Prz Menopauzalny 2020 Dec 7;19(4):151-154. Epub 2021 Jan 7.

Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Androgens play an important role in women's health. They are responsible for the sexual well-being and for maintaining proper structure and function of genitourinary woman's tract. In menopausal period a relative increase in androgens level is observed as a result of dramatic demise of estrogens and increase of sex hormone-binding globulin (SHBG). Read More

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December 2020

Autophagy participants in the dedifferentiation of mouse 3T3-L1 adipocytes triggered by hypofunction of insulin signaling.

Cell Signal 2021 Apr 7;80:109911. Epub 2021 Jan 7.

Shandong Provincial Key Laboratory of Animal Resistant Biology, College of Life Sciences, Shandong Normal University, Jinan 250014, China.

Our previous data indicate that both insulin and IGF-1 signallings dysfunction promotes the dedifferentiation of primary human and mouse white adipocytes. Based on the fact that insulin activates mTOR and inhibits autophagy, and autophagy deficiency can inhibit the differentiation of white adipocytes, we speculate that autophagy may be related to the dedifferentiation of white adipocytes. We investigated the underlying mechanism of autophagy during dedifferentiation of mouse 3T3-L1 adipocytes. Read More

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Implant soft tissue Dehiscence coverage Esthetic Score (IDES): A pilot within- and between-rater analysis of consistency in objective and subjective scores.

Clin Oral Implants Res 2021 Mar 26;32(3):349-358. Epub 2021 Jan 26.

Department of Periodontics & Oral Medicine, University of Michigan School of Dentistry, Ann Arbor, MI, USA.

Objectives: To introduce an esthetic index for assessing the outcomes of peri-implant soft tissue dehiscence/deficiency (PSTD) coverage and test its within- and between-reviewer reliability.

Materials And Methods: Photographs of 51 single PSTDs at baseline and after treatment were provided to four periodontists from three centers. The examiners were asked to rate each case at two timepoints with the Implant soft tissue Dehiscence/deficiency coverage Esthetic Score (IDES) that involved the evaluation of the post-treatment level of the soft tissue margin, peri-implant papillae height, mucosa color, and mucosa appearance (summing up to a total score of 10). Read More

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The Role of Orai1 in Regulating Sarcoplasmic Calcium Release, Mitochondrial Morphology and Function in Myostatin Deficient Skeletal Muscle.

Front Physiol 2020 21;11:601090. Epub 2020 Dec 21.

Department of Physiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

In mice a naturally occurring 12-bp deletion in the myostatin gene is considered responsible for the compact phenotype (Mstn, Cmpt) labeled by a tremendous increase in body weight along with signs of muscle weakness, easier fatigability, decreased Orai1 expression and store operated calcium entry (SOCE). Here, on the one hand, Cmpt fibers were reconstructed with venus-Orai1 but this failed to restore SOCE. On the other hand, the endogenous Orai1 was silenced in fibers from wild type C57Bl6 mice which resulted in ∼70% of Orai1 being silenced in whole muscle homogenates as confirmed by Western blot, accompanied by an inhibitory effect on the voltage dependence of SR calcium release that manifested in a slight shift toward more positive potential values. Read More

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December 2020

Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Na 1.2 expression.

Genes Brain Behav 2021 Apr 18;20(4):e12725. Epub 2021 Jan 18.

Department of Medicinal Chemistry and Molecular Pharmacology, College of Pharmacy, Purdue University, West Lafayette, Indiana, USA.

Large-scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. SCN2A encodes for the voltage-gated sodium channel isoform 1.2 (Na 1. Read More

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Evaluation of a modified method of extraction, purification, and characterization of lipopolysaccharide (O antigen) from Typhimurium.

Vet World 2020 Nov 5;13(11):2338-2345. Epub 2020 Nov 5.

Reference Laboratory for Veterinary Quality Control on Poultry Production, Animal Health Research Institute, Agriculture Research Center ARC, Dokki, Giza, Egypt.

Background And Aim: Lipopolysaccharide (LPS) is an integral part of the outer cell membrane complex of Gram-negative bacteria. It plays an important role in the induction and stimulation of the immune system. Various LPS purification protocols have been developed. Read More

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November 2020

[Evaluation of body composition, resting metabolic rate and frequency of metabolic disorders in adolescents with Klinefelter syndrome].

Probl Endokrinol (Mosk) 2020 Aug 30;66(2):71-78. Epub 2020 Aug 30.

Endocrinology Research Centre.

Background: Kleinfelter syndrome (KS) is a common genetic disease characterized by hypergonadotropic hypogonadism. The high risk of developing of metabolic disorders in patients with KS is be explained by the presence of androgen deficiency, which leads to a decrease in the amount of lean soft mass and an increase of the adipose tissue content. The basal metabolic rate (BMR) is determined by the amount of lean soft mass, and its reduction can contribute to weight gain and the progression of metabolic disorders in KS. Read More

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Serum vitamin D levels in healthy urban population at reproductive age: effects of age, gender and season.

Cent Eur J Public Health 2020 Dec;28(4):306-312

Department of Internal Medicine, Balikesir Havran State Hospital, Balikesir, Turkey.

Objective: The aim of the study was to determine the effects of age, gender and season on vitamin D status in healthy urban population at reproductive age. Also, we investigated the distribution of population into different groups regarding 25(OH)D levels.

Methods: Serum 25(OH)D levels of 21,317 participants: 5,364 men (25. Read More

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December 2020

Amylin receptor insensitivity impairs hypothalamic POMC neuron differentiation in the male offspring of maternal high-fat diet-fed mice.

Mol Metab 2021 02 3;44:101135. Epub 2020 Dec 3.

International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China; Institute of Embryo-Fetal Original Adult Disease Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Objective: Amylin was found to regulate glucose and lipid metabolism by acting on the arcuate nucleus of the hypothalamus (ARC). Maternal high-fat diet (HFD) induces sex-specific metabolic diseases mediated by the ARC in offspring. This study was performed to explore 1) the effect of maternal HFD-induced alterations in amylin on the differentiation of hypothalamic neurons and metabolic disorders in male offspring and 2) the specific molecular mechanism underlying the regulation of amylin and its receptor in response to maternal HFD. Read More

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February 2021

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

World J Clin Cases 2020 Nov;8(21):5446-5456

Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China.

Background: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels, resulting in juvenile cataracts, tendon xanthoma, chronic diarrhea, cognitive impairment, ataxia, spastic paraplegia, and peripheral neuropathy. Read More

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November 2020

Cardiomyocyte Oga haploinsufficiency increases O-GlcNAcylation but hastens ventricular dysfunction following myocardial infarction.

PLoS One 2020 30;15(11):e0242250. Epub 2020 Nov 30.

Department of Medicine, University of Louisville, Louisville, KY, United states of America.

Rationale: The beta-O-linkage of N-acetylglucosamine (i.e., O-GlcNAc) to proteins is a pro-adaptive response to cellular insults. Read More

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December 2020

[Impaired hematopoiesis due to copper deficiency in a hemodialysis patient supplemented with zinc].

Rinsho Ketsueki 2020 ;61(10):1487-1491

Department of Hematology, Medical Hospital, Tokyo Medical and Dental University.

This is a case of a 75-year-old man who was on maintenance hemodialysis for 10 years due to diabetic nephropathy and was prescribed polaprezinc due to a low serum zinc level (55 µg/dl) and dysgeusia. Three months after the polaprezinc treatment was initiated, the patient developed pancytopenia, which persisted even after the serum zinc level was normalized and medication was discontinued. He was referred to our institute so that the progression of pancytopenia could be assessed. Read More

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January 2021

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

Mol Genet Metab 2020 11 13;131(3):349-357. Epub 2020 Oct 13.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain. Electronic address:

Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic mutations in NDUFA8 (c.[293G > T]; [293G > T], encoding for an accessory subunit of CI, in two siblings with a favorable clinical evolution. Read More

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November 2020

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.

Neurol Genet 2020 Dec 13;6(6):e525. Epub 2020 Oct 13.

Friedrich Baur Institute at the Department of Neurology (F.R., T.K.), University Hospital, LMU Munich; Institute of Human Genetics (K.M.R., T.M., M.W.), Klinikum rechts der Isar, Technical University of Munich; Department of Nephrology (K.M.R.), Klinikum rechts der Isar, Technical University of Munich; Department of Ophthalmology (L.F.K.), Ludwig-Maximilians-University, Munich; Department of Pediatrics (G.G.), Division for Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg; Institute of Human Genetics (T.M., M.W.), Helmholtz Zentrum München, Neuherberg; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster of Systems Neurology (SyNergy) (T.K.), Munich; and Institute of Neurogenomics (M.W.), Helmholtz Zentrum München, Neuherberg, Germany.

Objective: To expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD).

Methods: We performed exome sequencing (ES) in a patient with the clinical diagnosis of complex hereditary spastic paraparesis. The patient was examined neurologically, including functional rating scales. Read More

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December 2020

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.

BMC Med Genet 2020 10 31;21(1):214. Epub 2020 Oct 31.

Department of Endocrinology, Key Laboratory of Endocrinology National Commission of Health Peking Union College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing street Dongcheng District, Beijing, 100730, China.

Background: Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Read More

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October 2020

A multicenter laboratory assessment of a new automated chemiluminescent assay for ADAMTS13 activity.

J Thromb Haemost 2021 02 21;19(2):417-428. Epub 2020 Nov 21.

Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW, Australia.

Background: Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially fatal disorder caused by ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) deficiency. Prompt identification/exclusion of TTP can thus be facilitated by rapid ADAMTS13 testing. The most commonly utilized (enzyme-linked immunosorbent assay [ELISA]-based) assay takes several hours to perform and so does not generally permit rapid testing. Read More

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February 2021

Long-term results of cochlear implantation in children with congenital single-sided deafness.

Eur Arch Otorhinolaryngol 2020 Oct 20. Epub 2020 Oct 20.

Department of Otorhinolaryngology, ENT Clinic, Medical Centre, University of Freiburg, Freiburg, Germany.

Purpose: The purpose of this retrospective study was to investigate the outcome and critical age of cochlear implantation in congenital single-sided deafness (SSD).

Methods: 11 children with congenital SSD were implanted with a cochlear implant (CI). Auditory performance was measured through the results of speech discrimination, subjective assessment by the Categories of auditory performance (CAP) score, the Speech, Spatial and Qualities scale questionnaire (SSQ) and the German version of the IOI-HA [Internationales Inventar zur Evaluation von Hörgeräten (IIEH, version for CI)]. Read More

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October 2020

Comparison Between Oral Anticoagulation and Left Atrial Appendage Occlusion in the Prevention of Stroke With Regard to Non-Valvular Atrial Fibrillation.

Cureus 2020 Sep 14;12(9):e10437. Epub 2020 Sep 14.

Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

In the past, the most common type of atrial fibrillation leading to stroke was valvular; this was predominantly due to the prevalence of rheumatic fever, but with the advent of better-hospitalized care, the cases of valvular atrial fibrillation declined. In recent years, there has been an increase in cases of stroke due to non-valvular atrial fibrillation. Stasis of blood in the left atrial pouch leads to coagulation and thrombi formation, which may lead to stroke. Read More

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September 2020

Autogenous Dentin Block of A Non Restorable Wisdom Tooth for Localized Horizontal Ridge Augmentation: Radiographic and Histological Analysis: A Preliminary Case Report.

Clin Adv Periodontics 2020 Oct 15. Epub 2020 Oct 15.

Oral Medicine, Periodontology and Diagnosis Department, Faculty of Dentistry, Ain Shams University, Egypt.

Introduction: Tooth roots proved in different studies clinically and radiographically to be an alternative to autogenous bone. However, the histological evaluation of the tooth block following ridge augmentation is still missing. The aim of this case report was to evaluate histologically and radiographically the effect of autogenous dentin block (DB) to restore a horizontal ridge deficiency at a single tooth gap. Read More

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October 2020

Effects of soy isoflavones extract on the lipid profile and uterus in ovariectomized rats.

Gynecol Endocrinol 2021 Feb 12;37(2):177-184. Epub 2020 Oct 12.

Departamento de Morfologia e Genética, Disciplina de Histologia e Biologia Estrutural, Escola Paulista de Medicina, Universidade Federal de São Paulo - EPM/UNIFESP, São Paulo, Brasil.

Aim: Although soy isoflavones (ISO) have been shown to relief postmenopausal symptoms, it remains inconclusive whether ISO can improve lipid-profile without uterotrophic effects under estrogen-deficiency. Thus, we investigated the effects of ISO on lipid-profile and uterus of ovariectomized (Ovx) rats.

Materials And Methods: Twenty-five adult rats were Ovx or Sham-operated (Sham) and assigned into five groups: Sham and Ovx groups, administered with vehicle solutions; Ovx-E, treated with 10 µg/kg of 17β-Estradiol; Ovx-ISO, treated with 200 mg/kg of ISO; Ovx-E + ISO, treated with estradiol + ISO combined. Read More

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February 2021