Risk of malignancies in autoimmune hepatitis type 1 patients with a long-term follow-up in Japan

AbstractMorning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

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Development and validation of a prognostic score for long‐term transplant‐free survival in autoimmune hepatitis type 1

United European Gastroenterology Journal ◽

10.1002/ueg2.12112 ◽

2021 ◽

Author(s):

Maaike Biewenga ◽

Xavier P.D.M.J. Verhelst ◽

Martine A.M.C. Baven‐Pronk ◽

Hein Putter ◽

Aad P. Berg ◽

...

Keyword(s):

Autoimmune Hepatitis ◽

Prognostic Score ◽

Free Survival ◽

Development And Validation ◽

Autoimmune Hepatitis Type 1

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LG-11ENDOCRINE LONG TERM FOLLOW-UP OF CHILDREN WITH NEUROFIBROMATOSIS TYPE 1(NF1) AND PPTIC PATHWAY GLIOMA (OPG)

Neuro-Oncology ◽

10.1093/neuonc/now075.11 ◽

2016 ◽

Vol 18 (suppl 3) ◽

pp. iii80.4-iii81

Author(s):

Ilaria Sani ◽

Assunta Albanese

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Long Term Follow Up

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A long term view of myringoplasty in children

The Journal of Laryngology & Otology ◽

10.1017/s0022215100113854 ◽

1990 ◽

Vol 104 (10) ◽

pp. 758-762 ◽

Cited By ~ 32

Author(s):

J. D. Blanshard ◽

A. K. Robson ◽

I. Smith ◽

A. R. Maw

Keyword(s):

Success Rate ◽

Significant Influence ◽

Hearing Gain ◽

Graft Take ◽

Late Failure ◽

Special Clinic ◽

Long Term Follow Up

AbstractFifty-nine type 1 tympanoplasties in children under 14 years of age were assessed by recall to a special follow-up clinic up to 15 years post-operatively. Overall 78 per cent of tympanic membranes were found to be intact with a late failure of grafts noted in 6 per cent of cases. An improvement in the audiological threshold was found in 51 per cent, 24 per cent were unchanged, the remaining 25 per cent suffered a deterioration which was seen both immediately post-operatively and thereafter until reviewed in the special clinic. The age at operation, size of the perforation, grade of surgeon carrying out the operation and prior adenoidectomy had no statistically significant influence on the success rate or the audiologicaloutcome. Revision procedures achieved similar graft take rates to the initial procedures but fared worse audiologically. We conclude that in the majority the operation was successful but hearing gain was not as good as expected and subject to late deterioration. A long term follow-up is important to detect this and other complications.

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