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https://www.readbyqxmd.com/read/29673697/adrenocortical-development-lessons-from-mouse-models
#1
Typhanie Dumontet, Isabelle Sahut-Barnola, Amandine Septier, Nathanaëlle Montanier, Ingrid Plotton, Florence Roucher-Boulez, Véronique Ducros, Anne-Marie Lefrançois-Martinez, Jean-Christophe Pointud, Mohamad Zubair, Ken-Ichirou Morohashi, David T Breault, Pierre Val, Antoine Martinez
The adrenocortical gland undergoes structural and functional remodelling in the fetal and postnatal periods. After birth, the fetal zone of the gland undergoes rapid involution in favor of the definitive cortex, which reaches maturity with the emergence of the zona reticularis(zR) at the adrenarche. The mechanisms underlying the adrenarche, the process leading to pre-puberty elevation of plasma androgens in higher primates, remain unknown, largely due to lack of any experimental model. By following up fetal and definitive cortex cell lines in mice, we showed that activation of protein kinase A (PKA) signaling mainly impacts the adult cortex by stimulating centripetal regeneration, with differentiation and then conversion of the zona fasciculata into a functional zR...
April 16, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29463864/lateral-tarsal-strip-versus-bick-s-procedure-in-correction-of-eyelid-malposition
#2
Kaveh Vahdani, Rebecca Ford, Helen Garrott, Vladimir Theodor Thaller
OBJECTIVES: To compare the functional and anatomical outcomes of lateral tarsal strip (LTS) with Bick's procedure in treatment of eyelid malposition. METHODS: A retrospective, consecutive case series of patients who underwent LTS and Bick's procedure for all types of involutional lower eyelid malposition, at two centers between January 2012 and 2015. Statistical analyses of differences between groups were performed using the Fisher's exact test to compare non-continuous variables and Mann-Whitney U test for continuous variables...
February 21, 2018: Eye
https://www.readbyqxmd.com/read/29446546/de-novo-variants-in-myelin-regulatory-factor-myrf-as-candidates-of-a-new-syndrome-of-cardiac-and-urogenital-anomalies
#3
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R Braddock, Aida Telegrafi, Kristin G Monaghan, Elaine Zackai, Elizabeth J Bhoj
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis...
February 15, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29438849/association-between-histological-alterations-in-the-thymus-and-sudden-infant-death-syndrome
#4
Ivan Varga, Ildikó Bódi, Veronika Mešťanová, Martin Kováč, Martin Klein
INTRODUCTION: Sudden infant death syndrome (SIDS) involves the death of an infant during the first year of life and it is among the leading causes of infant mortality worldwide. One hypothesis regarding the pathogenesis of SIDS is that it results from a combination of three independent factors: endogenous vulnerability, a critical time window during postnatal development, and exogenous stressors. This hypothesis is known as the "triple-risk model". METHODS: In this study, we used an immunohistological approach to compare the cellular microenvironments of thymuses from 19 infants whose sudden death was classified as SIDS and a control group, which consisted of thymuses from age-matched children undergoing surgery for various congenital heart defects...
April 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29391721/xanthomatous-sialadenitis-autoimmune-or-treatment-induced-lesions
#5
Adriana Handra-Luca
Xanthomatous sialadenitis (XS) is rarely reported. Here we report XS in a case of HLA-B27-positive ankylosing spondylitis showing also anti-MAG-positive polyneuropathy with IgM-kappa dysimmunoglobulinemia/paraproteinemia, lung small cell carcinoma and buccal squamous cell carcinoma (SCC). The lesions were identified in submandibular and labial minor salivary glands of a neck dissection specimen (made during a buccal 1.7 cm large SCC resection procedure). The oral SCC was resected at 8 months after the diagnosis of the lung small cell carcinoma (with skull dome metastases, revealed by a superior cava syndrome) and at 2 months after radiotherapy...
September 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/29297726/long-term-surgical-outcomes-in-the-sagging-eye-syndrome
#6
Zia Chaudhuri, Joseph L Demer
BACKGROUND/AIMS: Strabismus due to sagging eye syndrome (SES) caused by age-related connective tissue involution is now an established cause of diplopia in older people. High suspicion of the condition results in early recognition, often obviating extensive neurological investigations and enabling surgical correction of the strabismus. METHODS: This retrospective study reviewed surgical results in 93 patients (40 males) of average age 68 ± 12 years, who had small-angle strabismus due to SES, during the 20-year period 1994-2014...
March 2018: Strabismus
https://www.readbyqxmd.com/read/29237532/-research-progresses-in-the-pathogenesis-diagnosis-and-treatment-of-infantile-hemangioma-with-phace-syndrome
#7
REVIEW
Su-Hua Peng, Kai-Ying Yang, Si-Yuan Chen, Yi Ji
Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29179902/mediastinal-epipericardial-fat-necrosis-an-overlooked-and-little-known-cause-of-acute-chest-pain-mimicking-acute-coronary-syndrome
#8
Gabriela Gayer
Necrosis of the fat adjacent to the heart, referred to as pericardial fat necrosis, epipericardial fat necrosis, and mediastinal fat necrosis, is a rare, self-limited condition. It presents as a sudden onset of severe chest pain that mimics symptoms of pulmonary embolism and acute coronary syndrome. Computed tomography (CT) findings are quite typical and consist of a round- or oval-shaped mass-like lesion containing soft tissue and fat density components in the cardiophrenic space. Lack of familiarity with this condition has led in the past to surgical interventions to remove the mass-like mediastinal fat necrosis...
December 2017: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/29118491/retinopathy-of-prematurity-like-retinopathy-in-full-term-infants
#9
Dhanashree Ratra, Lala Akhundova, Manmath Kumar Das
PURPOSE: The purpose of this study is to assess clinical characteristics, risk factors, and management outcomes of retinal changes similar to retinopathy of prematurity (ROP), seen in full-term infants. PATIENTS AND METHODS: This is a retrospective review of 46 eyes of 23 patients, born at full term or near full term and diagnosed to have active ROP-like retinopathy or sequelae of ROP-like retinopathy. RESULTS: Mean birth weight (BW) and gestational age (GA) were 2342 ± 923 g (range, 1200-4160 g) and 38...
September 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28196319/common-skin-conditions-in-children-congenital-melanocytic-nevi-and-infantile-hemangiomas
#10
REVIEW
Brian Z Rayala, Dean S Morrell
Congenital melanocytic nevi (CMN) are hamartomas present at birth that are composed of nevomelanocytes and thought to originate from faulty migration of precursor melanocytes in the neural crest. Classification is based on projected adult size of the lesion. CMN size correlates positively with risk of melanoma and neurocutaneous melanocytosis. Management requires a patient-centered approach that weighs the risks and benefits of and alternatives to complete removal. All children with large and giant CMN, regardless of surgical status, should be monitored closely and undergo periodic skin examination...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/27837196/abnormal-thymic-maturation-and-lymphoproliferation-in-mrl-fas-lpr-lpr-mice-can-be-partially-reversed-by-synthetic-oligonucleotides-implications-for-systemic-lupus-erythematosus-and-autoimmune-lymphoproliferative-syndrome
#11
R F Ashman, N Singh, P S Lenert
MRL-Fas (lpr/lpr) mice represent an excellent animal model for studying non-malignant lymphoproliferation, regeneration and systemic autoimmunity. Retro-transposon insertion into the second intron of the pro-apoptotic Fas gene appears to be responsible for both lymphoproliferation and autoimmunity, while other genes are more likely to contribute to the regenerative healing characteristic of this mouse strain. Previous studies have shown that neonatal thymectomy can halt the development of abnormal lymphoproliferation...
June 2017: Lupus
https://www.readbyqxmd.com/read/27775309/-neonatal-use-of-propranolol-for-segmental-facial-hemangiomas
#12
V Villamil, N A Méndez Aguirre, T Martínez Menchón, O Girón Vallejo, M Fernández Ibieta, P Y Reyes Ríos, I Martínez Castaño, J Rojas Ticona, A Sánchez Sánchez, L Hernández Sánchez, J I Ruiz Jiménez
INTRODUCTION: Segmental cervico facial hemangiomas are defined as those longer than 5 cm, affecting a specific facial area. These lesions can be eventually associated with the PHACE syndrome. Our aim is to propose neonatal treatment with propranolol, showing its efficacy/safety, given the scarce evidence on its neonatal use. CLINICAL OBSERVATION: After written informed consent, four patients with segmental facial hemangioma were treated with propranolol in the neonatal period...
July 20, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27581728/fell-muir-lecture-regulatory-mechanisms-of-skeletal-and-connective-tissue-development-and-homeostasis-lessons-from-studies-of-human-disorders
#13
REVIEW
Bjorn R Olsen, Agnes D Berendsen, Tatiana Y Besschetnova, Xuchen Duan, Kai Hu
Studies of proliferative hemangiomas have led to the discovery that interactions of endothelial cells with extracellular matrix and/or Vascular Endothelial Growth Factor (VEGF)-A stimulate the expression of VEGFR1, the VEGF decoy receptor, and suppress VEGF-dependent VEGFR2 signalling by a mechanism that requires the matrix-binding receptor Anthrax Toxin Receptor (ANTXR)1, VEGFR2, β1 integrin and the Nuclear Factor of Activated T cells (NFAT). In hemangioma endothelial cells, all these components are present, but are functionally compromised, so that the levels of VEGFR1 are extremely low and VEGFR2 signalling is constitutively active...
August 2016: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/27443092/portal-steal-syndrome-after-full-size-deceased-donor-liver-transplantation
#14
Anahita Dua, Lisa McElroy, Abby Wochinski, Johnny C Hong, David C Cronin
Successful liver transplantation typically results in an immediate decrease in intrahepatic resistance accompanied by an initial increased hepatopedal portal flow. Within a short period of time, the portal hypertension resolves and the variceal shunts involute. However, in situations in which intrahepatic vascular resistance to venous flow remains elevated, significant hepatofugal portal flow may continue through persistent mesenteric shunts. This situation, portal steal, can result in decreased perfusion of the liver graft leading to graft dysfunction, failure, and potentially recipient death...
June 2016: WMJ: Official Publication of the State Medical Society of Wisconsin
https://www.readbyqxmd.com/read/27244920/-a-middle-term-results-of-endovenous-laser-ablation-for-varicose-disease-of-the-lower-extremities
#15
R R Osmanov
Abstract The results of endovascular laser ablation (EVLA) under ultrasonographic control in treatment of the lower extremities varicose disease (LEVD) in 189 patients (214 extremities) were analyzed. There was established, that for the trustworthy information obtaining the ultrasonographic duplex angioscanning conduction is necessary. The fibrous involution of a big subcutaneous vein trunk was achieved in (97.7 ± 1.0)% observations, in (1.9 ± 0.9)%--while the clinical signs absence--there were revealed the echo-signs of a reflux recurrence--the "ultrasonographic recurrence", and in one observation--a clinical recurrence of LEVD...
February 2016: Klinichna Khirurhiia
https://www.readbyqxmd.com/read/27166033/pathologic-lesions-in-children-with-acquired-immunodeficiency-syndrome-an-autopsy-study-of-11-cases-from-mumbai-india
#16
Dhanesheshwar N Lanjewar, Varsha Omprakash Bhatia, Sonali Dhaneshwar Lanjewar
BACKGROUND: Human immunodeficiency virus (HIV) infection in India has now been prevalent over three decades, and an increasing number of children are being affected with HIV. The spectrum of pathologic lesions in children with acquired immunodeficiency syndrome (AIDS) in India has not been well described. MATERIALS AND METHODS: A review of systematically conducted autopsies of 11 (10 boys and 1 girl) children with AIDS is presented. RESULTS: The mode of HIV transmission in 6 children was vertical; in one it was blood transfusion and in 4 children route was presumably vertical as these were children of orphanage...
April 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/27104789/-gluteal-insufficiency-pathogenesis-diagnosis-and-therapy
#17
REVIEW
N Harrasser, I Banke, H Gollwitzer, F Wilken, A Toepfer, R von Eisenhart-Rothe, M Hauschild
INTRODUCTION: Gluteal insufficiency is a common and challenging complaint. New concepts in pathobiomechanics and improved clinical understanding of chronic gluteal dysfunction have unmasked gluteus medius (GMed) tears as an underlying cause of enhanced trochanteric pain syndrome (GTPS). These tears are often missed or misdiagnosed as bursitis, but lead to prolonged chronic peritrochanteric pain. Clinic: The clinical signs are often dull pain on the lateral hip aspect, reduced hip abduction strength with positive Trendelenburg testing and a tendency for the leg to external rotation, as the internal rotation strength is reduced...
April 2016: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/27070436/the-6p25-deletion-syndrome-an-update-on-a-rare-neurocristopathy
#18
REVIEW
Ivo J H M de Vos, Alexander P A Stegmann, Carroll A B Webers, Constance T R M Stumpel
Anterior segment dysgeneses are developmental anomalies of the anterior eye segment that can occur as isolated defects or as part of various syndromes. A subgroup is caused by abnormal embryonic neural crest development. The Axenfeld-Rieger syndrome is an umbrella term for a continuum of anterior segment dysgeneses of neural crest origin, characterized by the presence of the Axenfeld or Rieger eye malformation predisposing for glaucoma. Additionally, other structures of neural crest origin can be variably affected giving rise to a wide spectrum of associated extra-ocular malformations...
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26860482/prognostic-value-of-fetal-thymus-size-in-intrauterine-growth-restriction
#19
Atalay Ekin, Cenk Gezer, Cuneyt Eftal Taner, Ulas Solmaz, Naciye Sinem Gezer, Mehmet Ozeren
OBJECTIVES: Our aim was to evaluate the size of the fetal thymus by sonography in pregnancies with intrauterine growth restriction (IUGR) and to search for a possible relationship between a small fetal thymus and adverse perinatal outcomes. METHODS: The transverse diameter of the fetal thymus was prospectively measured in 150 healthy and 143 IUGR fetuses between 24 and 40 weeks' gestation. The fetuses with IUGR were further divided according to normal or abnormal Doppler assessment of the umbilical and middle cerebral arteries and ductus venosus...
March 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/26524837/-cotard-s-syndrome-in-three-patients-with-schizophrenia-pathology-of-involutional-and-senile-onset-endogenous-psychosis
#20
Tomonori Fuke, Tohru Takahashi, Yoshiyuki Yamada, Mitsuhiro Miyashita, Naoji Amano, Masaaki Matsushita
A large number of case studies on Cotard's syndrome have reported that this syndrome develops after repeated episodes of depression in the presenile stage of life. Therefore, it has been defined as a severe type of affective spectrum disorder. This report describes three patients who exhibited symptoms characteristic of Cotard's syndrome, such as negative thoughts and delusions of immortality, in the presenile and senile stages of their lives. They also had a history of long-term treatment for schizophrenia based on a diagnosis in early adulthood...
2015: Seishin Shinkeigaku Zasshi, Psychiatria et Neurologia Japonica
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