Results 221 to 230 of about 286,506 (354)

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Clinical features, responses to therapy and prognosis of 107 patients with IgG4-related cholangitis: a retrospective study. [PDF]

BMC Gastroenterol
Sun J, Li C, Ma ZY, Wu X, Liu T, Li BL.
europepmc   +1 more source

Hepatic transplantation [PDF]

, 1964
Starzl, TE
core  

Late com plications with gallbladder conduit biliary reconstruction after liver transplantation [PDF]

, 1989
Halff, G, Hall, R, Starzl, TE, Todo, S
core   +1 more source

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

JPGN Reports, EarlyView.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan, Leslie Hirsig Spence, Nagraj Kasi   +2 more
wiley   +1 more source

A Curious Case of Intraductal Papillary Mucinous Neoplasm of the Bile Duct Presenting With Cholangitis. [PDF]

Cureus
Rachapoodi Venkata RR, Kondadasula PR, Janumpalli KKR.   +2 more
europepmc   +1 more source

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

Transplantation and other aspects of surgery of the liver [PDF]

, 1984
Iwatsuki, S, Shaw, BW, Starzl, TE, Van Thiel, DH   +3 more
core  

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children

JPGN Reports, EarlyView.
Abstract Hodgkin lymphoma (HL) has a wide spectrum of presentation. Most cases affect lymph nodes (nodal), while extranodal involvement is rare. Whereas the gastrointestinal tract is enriched with lymphoid tissues, the ampulla of Vater is not rich in lymphoid tissue. Involvement of the ampulla of Vater with HL has rarely been reported in adults and has
Sultana Alshammari, Homoud Alhebbi, Awad Al Qahtani, Sarah Algubaisi, Faisal Alhaffaf, Abdulrahman Al Robayan, Mohammed Almutairi, Saeed Alshieban, Mohammad Alshahrani, Tarek Khaled Alfawzan, Khalid Alkhamis, Ibrahim Al Hasan, Sami Wali   +12 more
wiley   +1 more source

Polysplenia syndrome complicated by multiple intrahepatic bile duct stones in an adult: a case report. [PDF]

Front Med (Lausanne)
Zhang J, Lu J, Liang H, Chen P, Wang Z, Liu N, Liu J.   +6 more
europepmc   +1 more source