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| 1 | Hepatic phenotypes of HNF1B gene mutations:A case of neonatal cholestasis requiring portoenterostomy and literature review显示文摘Hepatocyte nuclear factor 1-β(HNF1B)defects cause renal cysts and diabetes syndrome(RCAD),or HNF1B-maturity-onset diabetes of the young.However,the hepatic phenotype of HNF1B variants is not well studied.We present a female neonate born small for her gestational age[birth weight 2360 g;-2.02standard deviations(SD)and birth length 45 cm;-2.40 SD at the 38th gestational week].She developed neonatal cholestasis due to biliary atresia and required surgical intervention(portoenterostomy)when 32-d old.Following the operation,icterus resolved,but laboratory signs of liver dysfunction persisted.She had hyperechogenic kidneys prenatally with bilateral renal cysts and pancreatic hypoplasia postnatally that led to the diagnosis of an HNF1B deletion.This represents the most severe hepatic phenotype of an HNF1B variant recognized thus far.A review of 12 published cases with hepatic phenotypes of HNF1B defects allowed us to distinguish three severity levels,ranging from neonatal cholestasis through adult-onset cholestasis to noncholestatic liver impairment,all of these are associated with congenital renal cysts and mostly with diabetes later in life.We conclude that to detect HNF1B variants,neonates with cholestasis should be checked for the presence of renal cysts,with special focus on those who are born small for their gestational age.Additionally,patients with diabetes and renal cysts at any age who develop cholestasis and/or exocrine pancreatic insufficiency should be tested for HNF1B variants as the true etiological factor of all disease components.Further observations are needed to confirm the potential reversibility of cholestasis in infancy in HNF1B mutation/deletion carriers. | Radana Kotalova Petra Dusatkova Ondrej Cinek Lenka Dusatkova Tomas Dedic Tomas Seeman Jan Lebl Stepanka Pruhova | 2015 | World Journal of Gastroenterology2015，21，8： | 7 |
| 2 | Pseudocyesis, delusional pregnancy, and psychosis: The birth of a delusion显示文摘Both pseudocyesis and delusional pregnancy are said to be rare syndromes, but are reported frequently in developing countries. A distinction has been made between the two syndromes, but the line of demarcation is blurred. The aim of this paper is to review recent cases of pseudocyesis/delusional pregnancy in order to learn more about biopsychosocial antecedents. The recent world literature(2000-2014) on this subject(women only) was reviewed, making no distinction between pseudocyesis and delusional pregnancy. Eighty case histories were found, most of them originating in developing countries. Fifty patients had been given a diagnosis of psychosis, although criteria for making the diagnosis were not always clear. The psychological antecedents included ambivalence about pregnancy, relationship issues, and loss. Very frequently, pseudocyesis/delusional pregnancy occurred when a married couple was infertile and living in a pronatalist society. The infertility was attributed to the woman, which resulted in her experiencing substantial distress and discrimination. When antipsychotic medication was used to treat psychotic symptoms in these women, it led to high prolactin levels and apparent manifestations of pregnancy, such as amenorrhea and galactorrhea, thus reinforcing a false conviction of pregnancy. Developing the erroneous belief that one is pregnant is an understandable process, making the delusion of pregnancy a useful template against which to study the evolution of other, less explicable delusions. | Mary V Seeman | 2014 | World Journal of Clinical Cases2014，2，8： | 3 |
| 3 | Strontium ranelate reduces the risk of nonvertebral fractures in postmenopausal women with osteoporosis: Treatment of Peripheral Osteoporosis (TROPOS) study显示文摘 | Reginster JY Seeman E De Vemejoul MC | 2005 | Clin Endocrinol Metab2005，90，5： | 1 |
| 4 | Insights into material and structural basis of bone fragility from diseases associaled with fi'ac- tures: how determinants of the biomechanical properties of bone are compromised by disease显示文摘 | Chavassieux P Seeman E Delmas PD | 2007 | Endocr Rev2007，28，2： | 1 |
| 5 | Self-efficacy beliefs and change incognitive performance:macArthur studies of successful aging显示文摘 | Seeman T McAvay G Merrill S | 1996 | PsycholAging1996，11，3： | 1 |
| 6 | Dose fast dissociation fomented doparnine D2 recaptures plain the action of atypical anti--psychotic new hypothesis显示文摘 | Kapur S Seeman P | 2001 | Am J Psychiatry2001，158，： | 1 |
| 7 | Strontium ranelate reduces the risk of vertebral and nonvertebral fractures in women eighty years of age and older显示文摘 | Seeman E Vellas B Benhamou C | 2006 | J Bone Miner Res2006，21，7： | 1 |
| 8 | A longitudinal study of change in domain-specific self-efficacy among older adults显示文摘 | McAvay G Seeman T Rodin J | 1996 | J Gerontol Psychol Soc Sci1996，51，5： | 1 |
| 9 | The stuctural and biomechanical basis of the gain and loss of bone strength in women and men显示文摘 | Seeman E | 2003 | Endocrinol Metab Clin North(Am)2003，32，1： | 1 |
| 10 | The bioterrorism preparedness and response Early Aberration Reporting System (EARS) 显示文摘 | Hutwagner L Thompson W Seeman GM | 2003 | J Urban Health2003，80，21： | 1 |
| 11 | Psychosocial resources and the SES - health relationship 显示文摘 | Taylor SE Seeman TE | 1999 | Ann N Acad Sci1999，896，1： | 1 |
| 12 | Salinity-calciumn interactions on root growth and osmotic adjustment of two corn cultivars differing in salt tolerance显示文摘 | Cramer G R Abdel B R Seeman J R | 1990 | Joumal of Plant Nutrition1990，13，： | 1 |
| 13 | Osteocytes -martyrs for integrity of bone strength 显示文摘 | Seeman E | 2006 | Osteoporos Int2006，17，： | 1 |
| 14 | Dopamine receptor pharmacology显示文摘 | Seeman P Van Tol HH | 1993 | Curr Opin Neurol Neumsurg1993，6，4： | 1 |
| 15 | The structural and biome- chanical basis of the gain and loss of bone strength in women and men 显示文摘 | Seeman E | 2003 | Endocrinol Metab Clin North Am2003，32，1： | 1 |
| 16 | Sevoflurane and epileptiform EEG changes显示文摘 | Constant I Seeman R Murat I | | 0，，04： | 1 |
| 17 | Loss of Dopamine Neuron Terminals in Antipsychotic-Treated Schizophrenia,Relation to Tardive Dyskinesia显示文摘 | Seeman P Tinazzi M | | 0，，05： | 1 |
| 18 | Structure of bovine/3-1actoglobulin-lactoferrin coacervates显示文摘 | Kizilay E Seeman D Yan Y | 2014 | Soft Matter2014，10，37： | 1 |
| 19 | Comparing aberration detection methods with simulated data显示文摘 | Hutwagner L Browne T Seeman GM | 2005 | Emerg hffect Dis2005，11，2： | 1 |
| 20 | Combination radiofrequeney and diode laser for treatment of facial rhytides and skin laxity显示文摘 | Seeman Doshi & Tina S Alster | 2005 | Cosmet Laser Ther2005，7，： | 1 |
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