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https://www.readbyqxmd.com/read/29324586/ten-year-experience-of-transjugular-intrahepatic-portosystemic-shunt-for-noncirrhotic-portal-hypertension
#1
David Regnault, Louis d'Alteroche, Charlotte Nicolas, Fanny Dujardin, Jean Ayoub, Jean Marc Perarnau
BACKGROUND: Transjugular intrahepatic portosystemic shunt (TIPS) is considered to be well suited for the treatment of noncirrhotic portal hypertension (NCPHT) because of a usually severe portal hypertension (PHT) and a mild liver failure, but very less data are available. PATIENTS AND METHODS: Records of patients referred for TIPS between 2004 and 2015 for NCPHT were reviewed. No patient should have clinical or biological or histological features of cirrhosis. RESULTS: Twenty-five patients with a wide variety of histological lesions (sinusoidal dilatations, granulomatosis, regenerative nodular hyperplasia, obliterative portal venopathy, or subnormal liver) and a wide variety of associated diseases (thrombophilia, sarcoidosis, common variable immunodeficiency, scleroderma, Castleman's disease, early primitive biliary cirrhosis, congenital liver fibrosis, chemotherapy, purinethol intake, and congenital varices) were included...
January 10, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#2
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29298885/recombinant-chimpanzee-adenovirus-vaccine-adc7-m-e-protects-against-zika-virus-infection-and-testis-damage
#3
Kun Xu, Yufeng Song, Lianpan Dai, Yongli Zhang, Xuancheng Lu, Yijia Xie, Hangjie Zhang, Tao Cheng, Qihui Wang, Qingrui Huang, Yuhai Bi, William J Liu, Wenjun Liu, Xiangdong Li, Chuan Qin, Yi Shi, Jinghua Yan, Dongming Zhou, George F Gao
The recent outbreak of Zika virus (ZIKV) has emerged as a global health concern. ZIKV can persist in human semen and be transmitted by sexual contact, as well as by mosquitos as seen for classical arboviruses. We and others have previously demonstrated that ZIKV infection leads to testis damage and infertility in mouse models. So far, no prophylactics or therapeutics are available, therefore, vaccine development is urgently demanded. Recombinant chimpanzee adenovirus has been explored as the preferred vaccine vector for many pathogens due to the low pre-existing immunity against the vector among the human population...
January 3, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29273020/trends-in-cause-and-place-of-death-for-children-in-portugal-a-european-country-with-no-paediatric-palliative-care-during-1987-2011-a-population-based-study
#4
Ana Forjaz de Lacerda, Barbara Gomes
BACKGROUND: Children and adolescents dying from complex chronic conditions require paediatric palliative care. One aim of palliative care is to enable a home death if desired and well supported. However, there is little data to inform care, particularly from countries without paediatric palliative care, which constitute the majority worldwide. METHODS: This is an epidemiological study analysing death certificate data of decedents aged between 0 and 17 years in Portugal, a developed Western European country without recognised provision of paediatric palliative care, from 1987 to 2011...
December 22, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29235540/characteristic-dysmorphic-features-in-congenital-disorders-of-glycosylation-type-iib
#5
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
December 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#6
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29204910/who-is-the-patient-at-risk-of-cmv-recurrence-a-review-of-the-current-scientific-evidence-with-a-focus-on-hematopoietic-cell-transplantation
#7
REVIEW
Jan Styczynski
Cytomegalovirus (CMV) is an agent of global infection, and its acquisition in a population is characterized by an age-dependent rise in seropositivity. After primary infection, CMV remains in the host cells in latent form, and it can reactivate in the case of immune suppression. The risk of CMV recurrence is dependent on the level of incompetency of the immune system, manifested as an impairment of T-cell immunity, including the presence and function of CMV-specific cytotoxic T lymphocytes. This article presents data on the incidence of CMV recurrence in groups of immunocompromised patients, including allogeneic hematopoietic stem cell transplantation (HSCT) patients and other groups of patients, based on a summary of reported data...
December 4, 2017: Infectious Diseases and Therapy
https://www.readbyqxmd.com/read/29185251/ultrasound-indications-for-maternal-storch-testing-in-pregnancy
#8
Cora Alexandra Voekt, Therese Rinderknecht, Hans Hellmuth Hirsch, Annette Blaich, Irene Mathilde Hösli
AIMS OF THE STUDY: Fetal abnormalities found on ultrasonography lead to a variety of diagnostic procedures, including a panel of serologies to detect possible maternal STORCH infections encompassing syphilis, Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex, and others (human immunodeficiency virus, hepatitis B and C, parvovirus B19, enterovirus, varicella zoster, and Leptospira interrogans). The value of indiscriminate testing for infections upon the detection of fetal ultrasound abnormalities has been questioned...
November 29, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29170255/outcomes-among-us-patients-with-diffuse-large-b-cell-lymphoma-are-independent-of-tumor-epstein-barr-virus-positivity-or-immunosuppression
#9
Sean I Tracy, Thomas M Habermann, Andrew L Feldman, Matthew J Maurer, Ahmet Dogan, Usha S Perepu, Sergei Syrbu, Stephen M Ansell, Carrie A Thompson, George J Weiner, Grzegorz S Nowakowski, Cristine Allmer, Susan L Slager, Thomas E Witzig, James R Cerhan, Brian K Link
The prevalence, presenting clinical and pathologic characteristics, and outcomes for patients with diffuse large B-cell lymphoma that is Epstein-Barr Virus positive remains uncertain as does the impact of congenital or iatrogenic immunosuppression. Patients with newly diagnosed diffuse large B-cell lymphoma with available tissue arrays were identified from the University of Iowa/Mayo Clinic Molecular Epidemiology Resource. Patients with Human Immunodeficiency Virus or prior organ transplant were excluded. Epstein-Barr-associated ribonucleic acid testing was performed on all tissue arrays...
November 23, 2017: Haematologica
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#10
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29138020/moyamoya-syndrome-in-a-pediatric-patient-with-congenital-human-immunodeficiency-virus-type-1-infection-resulting-in-intracranial-hemorrhage
#11
Junko Yamanaka, Ikuma Nozaki, Mizue Tanaka, Hideko Uryuu, Noriko Sato, Takeji Matsushita, Hiroyuki Shichino
In the era of Antiretroviral Therapy (ART) in which human immunodeficiency virus type 1 (HIV-1) infection affected children can expect a better prognosis, the importance of careful follow up of pediatric HIV-1 cases for neurological complications has been growing. We present a case of hemorrhagic Moyamoya syndrome in a child with congenital HIV-1 infection. A 10-year-old girl was referred to our hospital for the treatment of Pneumocystis Jirovecii Pneumonia (PCP: Pneumocystis pneumonia). Her HIV-1 control was poor and Moyamoya syndrome was found during the opportunistic infection screening at admission...
November 11, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29056561/bloom-syndrome-does-not-always-present-with-sun-sensitive-facial-erythema
#12
Arjan Bouman, Silvana van Koningsbruggen, M Bariş Karakullukcu, Willem Hans Schreuder, Phillis Lakeman
Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients...
October 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29046517/a-rare-association-of-congenital-asplenia-with-jejunal-arteriovenous-malformation
#13
Jelena Z Arnautovic, Areej Mazhar, Stela Tereziu, Kashvi Gupta
BACKGROUND Isolated congenital asplenia is a poorly understood and rare form of primary immunodeficiency, often associated with life-threatening infections. CASE REPORT We encountered a unique case of a 22-year-old asplenic male who presented with severe iron-deficiency anemia secondary to occult gastrointestinal bleeding since age 15. Our extensive work-up confirmed jejunal arteriovenous malformations as the source of the bleed. Six months after the treatment, the patient has reported no further episodes of gastrointestinal bleeding and his hemoglobin has remained stable...
October 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29023302/complete-resolution-of-lymphoid-interstitial-pneumonia-in-a-patient-with-juvenile-myelomonocytic-leukemia-treated-with-allogeneic-bone-marrow-transplant-killing-2-birds-with-1-stone
#14
Anant Vatsayan, Ravi Talati, Kristen Nagle, Linda Cabral, Sloane Cammock, Amy Dimarino, Rachel Egler, Shahrazad Saab, Jignesh Dalal
Lymphoid interstitial pneumonia (LIP) is a rare disease characterized by benign reactive polyclonal proliferation of bronchus-associated lymphoid tissue after exposure to inhaled or circulating antigen(s), leading to a disease symptomatology similar to idiopathic interstitial pneumonia. Its association with diseases that are caused due to immune dysregulation (autoimmune diseases, congenital/acquired immunodeficiency, and allogeneic bone marrow transplant) and response to immunomodulatory/suppressive medications suggests an immunologic pathophysiology...
October 11, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29017675/familial-hodgkin-lymphoma
#15
Mahwish Faizan, Rahat Ul Ain Kashif, Saadia Anwar, Mansoor Safdar
Hodgkin Lymphoma (HL) is a lymphoid tumour that represents about 1% of all neoplasms occurring worldwide. HLis the most treatable of childhood malignancies. The etiology of HLis unknown. However, increase risk has been reported in males, with autoimmune diseases, poor socioeconomic status, increased family size, Ebstein Barr Virus (EBV) exposure, congenital or acquired immunodeficiency and those with a family history of HL. Familial HLis rare. The risk of developing HLis increased six times in the siblings of the affected patients...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28972010/thyroid-hormone-regulates-hematopoiesis-via-the-tr-klf9-axis
#16
Ying Zhang, Yuanyuan Xue, Chunwei Cao, Jiaojiao Huang, Qianlong Hong, Tang Hai, Qitao Jia, Xianlong Wang, Guosong Qin, Jing Yao, Xiao Wang, Qiantao Zheng, Rui Zhang, Yongshun Li, Ailing Luo, Nan Zhang, Guizhi Shi, Yanfang Wang, Hao Ying, Zhonghua Liu, Hongmei Wang, Anming Meng, Qi Zhou, Hong Wei, Feng Liu, Jianguo Zhao
Congenital hypothyroidism (CH) is one of the most prevalent endocrine diseases, for which the underlying mechanisms remain unknown; it is often accompanied by anemia and immunodeficiency in patients. Here, we created a severe CH model together with anemia and T lymphopenia to mimic the clinical features of hypothyroid patients by ethylnitrosourea (ENU) mutagenesis in Bama miniature pigs. A novel recessive c.1226A>G transition of the dual oxidase 2 (DUOX2) gene was identified as the causative mutation. This mutation hindered the production of hydrogen peroxide (H2O2) and thus contributed to thyroid hormone (TH) synthesis failure...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/28967497/pulmonary-artery-hypertension-in-childhood-the-transforming-growth-factor-%C3%AE-superfamily-related-genes
#17
REVIEW
Shi-Min Yuan
Pulmonary artery hypertension (PAH) is very rare in childhood, and it can be divided into heritable, idiopathic drug- and toxin-induced and other disease (connective tissue disease, human immunodeficiency virus infection, portal hypertension, congenital heart disease, or schistosomiasis)-associated types. PAH could not be interpreted solely by pathophysiological theories. The impact of the transforming growth factor-β superfamily-related genes on the development of PAH in children remains to be clarified. Pertinent literature on the transforming growth factor-β superfamily-related genes in relation to PAH in children published after the year 2000 was reviewed and analyzed...
August 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28940864/the-22q11-2-deletion-syndrome-cancer-predisposition-platelet-abnormalities-and-cytopenias
#18
REVIEW
Michele P Lambert, Abinaya Arulselvan, Amanda Schott, Stephen J Markham, Terrance B Crowley, Elaine H Zackai, Donna M McDonald-McGinn
The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child. The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11...
September 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28932937/foxn1-deficiency-from-the-discovery-to-novel-therapeutic-approaches
#19
REVIEW
Vera Gallo, Emilia Cirillo, Giuliana Giardino, Claudio Pignata
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28820706/high-prevalence-of-treponema-pallidum-infection-in-brazilian-prisoners
#20
Maisa Estopa Correa, Julio Croda, Ana Rita Coimbra Motta de Castro, Sandra Maria do Valle Leone de Oliveira, Maurício Antonio Pompilio, Ronaldo Omizolo de Souza, Júlio Henrique Ferreira de Sá Queiroz, Kesia Esther da Silva, Albert I Ko, Simone Simionatto
The number of new syphilis cases in Brazil has risen alarmingly in recent years. However, there is limited data regarding syphilis prevalence in the Brazilian prison population. To facilitate the development of effective interventions, a cross-sectional study was undertaken to determine the prevalence of Treponema pallidum infection, active syphilis, and associated risk factors among Brazilian prisoners. We administered a questionnaire to a population-based sample of prisoners from 12 prisons in Central-West Brazil and collected sera for syphilis testing, from January to December 2013...
October 2017: American Journal of Tropical Medicine and Hygiene
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