Abstract Genetic alterations that involve the inner ear and other systems may present well-defined clinical differences. [wwww.unboundmedicine.com]

Type 1 is described as static and does not present with neurologic disease, whereas type II is characterized by progressive neurologic disease. [preventiongenetics.com]

Case Presentation 20yo G0P0 female presented with what was thought to be secondary amenorrhea to her internal medicine physician after multiple negative pregnancy tests. [hindawi.com]

At first presentation, very few patients present in advanced stage of disease and with complications of portal hypertension (ascites, hepatic encephalopathy or esophageal variceal bleeding). [easl.eu]

Workup Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and arterial blood gas ( ABG ) sampling (since hypoxia and hypercarbia in room air reflect severe restrictive lung disease [emedicine.medscape.com]

Genetic workup provided further evidence on the causative role of TWNK mutations. [translational-medicine.biomedcentral.com]

Moreover, long-term treatment with UDCA delayed the histological progression of the disease in patients in whom treatment was started at an early stage [ [17], [18] ]. [easl.eu]

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

Teaching diaphragmatic treatment for rumination syndrome. Am J Gastroenterol 2006;101:2449-52. 28. Johnson WG, Corrigan SA, Crusco AH, Jarrell MP. Behavioral assessment and treatment of postprandial regurgitation. [jpgmonline.com]

It is clear however, that medical treatments do not make this rare event more likely. [endocrineonline.org]

She was referred to the OB-GYN service, gonadal dysgenesis was diagnosed, and proper treatment was initiated. [hindawi.com]

Prognosis The prognosis in JS depends on its expression. Patient Education O'Connor MB, Gallagher DP, Mulloy E. Jeune syndrome. Postgrad Med J. 2008 Oct. 84(996):559. [Medline]. de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. [emedicine.medscape.com]

Barcelona criteria” was confirmed in a large independent cohort of PBC patients for which a serum bilirubin ⩽1 mg/dL (17 μmol/L), AP ⩽3× ULN, and AST ⩽2× ULN (“Paris criteria”) after one year of treatment even better identified those with a good long-term prognosis [easl.eu]

Incidence, prognosis, and etiology of end-stage liver disease in patients receiving home parenteral nutrition. Surgery 1999;126:28-34. 13. Btaichi IF, Khaldi N. Parenteral nutrition-associated liver complications in children. [sjkdt.org]

Rumination syndrome in children and adolescents: Diagnosis, treatment and prognosis. Pediatrics 2003;111:158-62. 24. Shay SS, Johnson LF, Wong LK, Curtis DJ, Rosenthal R, Lamott JR, et al. [jpgmonline.com]

View Article PubMed Google Scholar Chial HJ, Camilleri M, Williams DE, Litzinger K, Perrault J: Rumination syndrome in children and adolescents: diagnosis, treatment, and prognosis. Pediatrics. 2003, 111 (1): 158-162. 10.1542/peds.111.1.158. [bmcgastroenterol.biomedcentral.com]

Hyperlipidemia did not improve with addition of a statin drug, indicating that the etiology is unlikely to be an over production. [sjkdt.org]

It is often associated with a hypothalamic hypogonadotropic etiology. Premature ovarian failure can be idiopathic, secondary to chemotherapy or radiation therapy, or autoimmune in origin. [emedicine.medscape.com]

Indications are not different from those of patients with other etiologies of liver failure [54] : decompensated cirrhosis with an unacceptable quality of life or anticipated death within a year due to treatment-resistant ascites and spontaneous bacterial [easl.eu]

Philip Finny IJEM_532_17 Clinico-pathological characteristics in adrenocortical carcinoma- a single centre experience over a decade Arun Menon REPRODUCTIVE ENDOCRINOLOGY IJEM_315_17 STUDY OF THE CLINICAL PROFILE AND ETIOLOGY OF VARIOUS DISORDERS OF SEX [esicon2017.com]

Rumination: Etiology and treatment. Pediatr Ann 1984;13:924-9. 5. Rogers B, Stratton P, Victor J, Cennedy B. Andres M. Chronic regurgitation among persons with mental retardation: A meed for combined medical and interdisciplinary strategies. [jpgmonline.com]

Discussion Due to lack of epidemiological studies, rumination syndrome has been previously considered as a rare paediatric disorder. [bmcgastroenterol.biomedcentral.com]

Relevant External Links for LARS2 Genetic Association Database (GAD) LARS2 Human Genome Epidemiology (HuGE) Navigator LARS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LARS2 No data available for Genatlas for LARS2 Gene Human mitochondrial [genecards.org]

The aim of the present review is to describe the underlying epidemiology, pathophysiologic mechanisms, clinical features, modern diagnostic tools and the currently available therapeutic approaches of the rumination syndrome in adults after systematic [jpgmonline.com]

[…] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology [irdirc.org]

The rumination syndrome in adults: A review of the pathophysiology, diagnosis and treatment. J Postgrad Med 2007;53:203-6 How to cite this URL: Papadopoulos V, Mimidis K. [jpgmonline.com]

Studies to understand the pathophysiology of bone marrow failure are currently underway. [emedicine.medscape.com]

The scientific field of this group is the identification of genes involved in mitochondrial disorders and the investigation of their pathophysiology. [slideshare.net]

Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy. Brain. 2015;138:3141–58. View Article PubMed Google Scholar Cacace AT, Pinheiro JM. The mitochondrial connection in auditory neuropathy. [translational-medicine.biomedcentral.com]

However, during prolonged fasting, hormonal and metabolic changes are aimed at preventing protein and muscle breakdown. [sjkdt.org]

Prevention and treatment. Ann Thorac Surg 75(6):S48–S57 PubMed CrossRef 92. [springermedizin.de]

The degree to which this long term administration of oestrogen prevents cardiovascular disease or increases risk of breast cancer is unknown and we can only extrapolate from studies in older postmenopausal women. [endocrineonline.org]

Studies with a longer follow-up using the combination of budesonide and UDCA in patients with early-stage disease not adequately responding to UDCA alone are warranted to confirm its safety and its effect on postponing or preventing the need for liver [easl.eu]

Genetic testing is of benefit to the early diagnosis of PRLTS4, and the clinical genetic evaluation is vital to guide prevention. ACKNOWLEDGMENTS We sincerely thank all the family members for their participation and cooperation in this study. [onlinelibrary.wiley.com]