Physicians Mark Lowe. MD, PhD

Chief

Leah Siebold, MD Clinical Director

David J. Keljo, MD, PhD Director of IBD Center

Jeffrey Rudolph, MD Director of I-Care

Benjamin Shneider, MD Director of Pediatric Hepatology

Feras Alissa, MD Riha Bhatt, MD Maria I. Clavell, MD Andrew Chu, MD John F. Eisses, MD, PhD Alka Goyal. MO Sohail Z. Husain, MD Dale King, MD Douglas Lindblad, MD Sapana Shah, MD Robert H. Squires, MD Arvind Srinath, MD Veena Venkat, MD

Fellows Tamara Feliciano Alvarado, MD Myriam Barragan, MD Zahida Khan, MD, PhD Payal Patel, MD Fateema Turay, MD Whitney Sunseri, MD Allll"40 Wyatt, MD

Pt.. -1an Extenders Carol Earl, PA-C Leslie Coda. CRNP

Medical Coping Eva Szigethy, MD, PhD

Director

David Benhayon, MD, PhD Susan Turner, PsyO

of UPMC

Gastroenterology, Hepatology & Nutrition Department

8/7/2014

RE: Jianjua Draco Xie

Dear Mr. Xie:

One Children's Hospital Drive 4401 Penn Avenue Pittsburgh, PA 15224

Ph: 412-692-5180 (Days) Fx: 412-692-7355 412-692-5326 (Evening/Weekend)

www.chp.edu

Thank you for the opportunity to provide consultative services for your son, Jianhua, in the Gastroenterology Clinic at Children's Hospital of Pittsburgh of UPMC. I regret that the experience did not meet your family's expectations related to outcomes and planning for future care.

During our discharge conversation, you made the request that the staff at

Children's Hospital of Pittsburgh of UPMC not engage in any communication with Jianhua's primary physician, Dr. Simon Horslen, or

any other providers. Although the standard practice that we find to be medically responsible is to convey all pertinent information to the referring

physician, we will certainly respect your request. Please know that you can rescind that decision at any time and we will be pleased to provide a visit summary or other records as indicated.

I hope that this letter will serve as acceptable documentation of our understanding of your request. If you have additional questions or concerns, please do not hesitate to contact the Gastroenterology Department.

Benjamin Shneider, MD

Director of Pediatric Hepatology Gastroenterology, Hepatology, and Nutrition Department Children's Hospital of Pittsburgh, of UPMC

of

UPMC Patient Name:

Date of Birth:

MRN:

Date of Service:

XIE, JIANHUA DRACO

9/16/2012

970819723

7/30/2014

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Evaluation *"""***"FINAL REPORT*""""""** Gastroenterology Evaluation

XIE, JIANHUA MRN 970819723 DOB 09/16/2012 DOS 07/30/2014

Gastroenterology 7/30/2014 00:00 EDT Final SHNEIDER MD,BENJAMIN L (7/31/201414:59 EDT) SHNEIDER MD,BENJAMIN L (8/6/201411 :26 EDT)

I had the opportunity to Jianhua Draco Xie in the Pediatric Liver Program for a third opinion and consultation requested by the metabolic team here at Children's Hospital of Pittsburgh. Information for this consultation came from the review of records sent by the family including approximately 100 pages of documents, certainly not his entire medical record, consisting mostly of summaries and pertinent laboratory testing. Information for this consultation also came from an interview with the child's mother and father, and from discussion with Dr. Gerard Vockley and Dr. Areeg EI-Gharbawy. The focus of my consultation was on the current status of the liver disease in this patient with discussion of potentia l etiology and prognosis. The consultation lasted approximately 75 minutes with at least 60 minutes face-to-face discussion of these issues. I will not go over his entire story as it is summarized in our scanned electronic medical records, but I w ill summarize some pertinent issues related to his liver disease. I would defer comments with regard to his potential metabolic disorders in particular fatty acid oxidation defects to the metabolic team, which I did explain to the family Jianhua presented at 7 months of age in his hometown of Seattle WA with jaundice and abdominal distention with peripheral edema. Review of pertinent records indicates that there was evidence of cholestasis with a total bilirubin of 14.3 with a conjugated fraction of 4.0. At that time, he had minimal elevations in transaminases with an ALT of 91 and AST of 107 and alkaline phosphatase of 1270. At presentation, he had significant coagulopathy with an INR of 5.6 and a prothrombin time of 48.6. Of note, vitamin D, vitamin E levels were both low at presentation suggesting prior cholestasis. A vitamin A level was in the recommended range at 38. Also, of note, a gamma GTP level at presentation in the setting of this apparent cholestasis was 34. Relevant findings from the diagnostic investigations included an ANA which was

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Report Request ID: 17688675 Page 1 of6 Printed Date/Time: 8/22/2014 13:35 EDT

1

of

UPMC Patient Name:

Date of Birth:

MRN:

Date of Service:

XIE, JIANHUA DRACO

9/16/2012

970819723

7/30/2014

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negative, liver-kidney-microsomal antibody which was negative, a urine FAB-MS for bile acid synthesis defects, which was negative for specific abnormalities and a gene chip for cholestatic diseases which revealed a single mutation in ATP8b1 of unclear significance. Because of his initial severe presentation, Jianhua was listed for liver transplantation, but he had progressive improvement in his liver disease and ultimately was removed from the transplant list It is my understanding that he has continued to be followed by the Pediatric Liver Group in Seattle, and I defer to them with regard to ongoing management issues. As part of his investigations, he did undergo a laparoscopic liver biopsy. That biopsy at the time of gross examination was consistent with a micronodular cirrhosis and splenomegaly and ascites was present at presentation_ His coagulopathy improved relatively quickly with an INR noted of 2.2 two weeks after his initial hospitalization, and there appears to have been subsequent improvement since then_ He did have thromoocytopenia at presentation, which persisted for a few months_ His platelet count was 43,000 at presentation and 3 months later the platelet count was still125,000 He was treated with fat soluble vitamins, ursodeoxycholic acid, and has been on the medium chain triglyceride-based diet with restriction of long chain fats. We did have the opportunity to review his liver biopsy here, the report of which is in our electronic medical records_ That biopsy revealed features of micro-nodular cirrhosis light and electron microscopy did not reveal specific metaoolic disorder. Jianhua does not currently have symptomatology of liver disease_ There is no report of pruritus_ He seems to be stable. He has not had problems with bleeding_ By report he has been off of the ursodeoxycholic acid for the last 3 months_

PAST MEDICAL HISTORY Notable for the issues raised as above_

SURGICAL HISTORY: Involves the biopsy and the PICC line placement as part of his initial disease management

CURRENT MEDICATIONS: Include 2000 units per day of vitamin D3 and AquADEKs.

ALLERGIES: HIS FAMILY REPORTS NO KNOWN ALLERGIES.

IMMUNIZATIONS: Reportedly up-to-date_

Regarding his birth history for Jianhua, there were no reported problems during the pregnancy. He weighed 7 pounds 6 ounces at birth without significant neonatal problems_

REVIEW OF SYSTEMS: A 14-point review of systems was negative as noted in our records.

FAMILY HISTORY: Notable for mother who has report of an arrhythmia and myocarditis in the father and the great-uncle who died from unknown reasons at 4 years of age_

Report Request 10: 17688675 Page 2 of6 Printed Date!Time: 8/22/2014 13:35 EDT

of UPMC

Patient Name:

Date of Birth: MRN:

XIE, JIANHUA DRACO

9/16/2012 970819723

Date of Service: 7/30/2014

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SOCIAL HISTORY: The patient lives at home with 3 siblings, ages 13, 10, and 4 and his grandmother. No smokers in family. No recent stresses, although certainly this illness has been significant stress to his family.

PHYSICAL EXAMINATION: GENERAL: Jianhua was examined in his stroller to optimize the exam He was sleeping but awakened. He was in no apparent distress. HEENT: His head was normocephalic and atraumatic. I did not appreciate any ascites. Ears were externally normal. NECK: Supple I appreciated no adenopathy. CHEST: Clear without any respiratory distress. CARDIAC: Did not reveal any murmurs with good pulses and perfusion. ABDOMEN: Soft, nondistended, nontender. No clinical evidence of ascites and no apparent hepatosplenomegaly. RECTAL Deferred as not clinically indicated. SKIN: Did not reveal rashes consistent with chronic liver disease. He had no lymphadenopathy NEUROLOGIC: Grossly nonfocal. EXTREMITIES: Did not reveal any clubbing, cyanosis, or edema_ MUSCULOSKELETAL: Did not reveal diminished subcutaneous fat or muscle mass.

I did request a standard liver panel to assess the status of Jianhua's liver disease_ His liver panel was relatively unremarkable with a bilirubin of 0.4 with a direct fraction, which was undetectable and an ALT of 58 and AST of 67 and alkaline phosphatase of 463. Prothrombin time was normal at 14.1 seconds and an albumin level was also normal at 4.2. Basic metabolic panel was also unremarkable with a sodium of 140, potassium of 4.4, chloride of 109, bicarbonate of 23, BUN of 13, and a creatinine of 0.3. An abdominal sonogram was obtained. At the time of my meeting with the family, I had a preliminary report Since then the final report has been issued. The sonogram reveals mild diffuse coarse echotexture of the liver consistent with a history of cirrhosis with persistent multiple small ovoid hyperechoic lesions which had been evaluated in the past. There is no evidence of splenomegaly and no evidence of ascites, there is a normal gallbladder, and the visualized pancreas was unremarkable. Hepatic and splenic vessels were patent.

OVerall, Jianhua has a history of what sounds like a presentation of cholestatic liver disease that included a significant coagulopathy which may have been in part vitamin K deficiency, but also evidence of significant liver injury. The type of injury was somewhat unusual in the lack of transaminase elevations which I think had initially the family had interpreted as features of lack of hepatocytes (very severe liver injury) . Given his clinical course, I do not think that was in fact the case. He currently has minimal if any features of significant portal hypertension. Certainly, he has no thrombocytopenia. He has no ascites He has no splenomegaly. He still has coarse echotexture liver and may still have

Report Request ID: 17688675 Page 3 of6 Printed Date/Time: 8/22/2014 13:35 EDT

II

of UPMC

Patient Name:

Date of Birth: MRN:

Date of Service:

XIE, JIANHUA DRACO

9/16/2012 970819723

7/30/2014

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residual cirrhosis or significant fibrosis. His liver biochemistries are fairly unremarkable at this point in time, and I certainly would concur that liver transplantation is clearly not indicated.

The specific etiology of his liver disease is unclear. Of note he has had whole exome sequencing analysis done and a specific genetic basis for his disease is not apparent from that perspective. A non-exomic etiology is always a possibility. At present, I think that careful observation of his clinical course is indicated. He should continue to have his liver panel checked, I think every 1-3 months, and his clinical status followed as far as his growth is concerned. At some point in the future, a percutaneous biopsy might be indicated to assess residual status of his liver disease and perhaps to give further insight into the basis of his underlying liver disease. This is clearly not an urgent issue. It is not one that I recommended pursuing at this moment in time and is something the timing of which might be influenced by his clinical course over the next few months to 1 or 2 years. It is possible that his liver disease may resolve completely. His liver disease may remain idiopathic, which certainly happens with some children. I would not recommend any specific changes in his therapy at present, and I think that his diagnostic investigations to date have been excellent and I think that careful followup is certainly in order with his local team Seattle. I would defer any recommendations regarding diet especially vis a vis a potential metabolic defect to the metabolic teams.

Thank you very much for allowing me to participate in his care.

Sincerely,

Benjamin Shneider, MD Director of Hepatology Professor of Pediatrics Department of Pediatric Gastroenterology

D: 07/31/2014 02:59PM, BS T: 08/01/2014 08:13AM, an R: 08/06/2014 11 :25AM Confirmation#: 1980402/ Document ID: 4940819

cc: Benjamin Shneider MD, Primary Care Physician Free Format, Referring Physician

Electronically signed by: Benjamin Shneider, MD on 08/06/2014 at 11 :25 AM

Report Request ID: 17688675 Page 4 of6 Printed Date/Time: 8/22/2014 13:35 EDT

News Solutions Resources Search

Texas Children's Hospital announces Dr.Benjamin L. Shneider as new chief ofGastroenterology, Hepatology and Nutrition05 Jan, 2015, 14:00 ET from Texas Children's Hospital

HOUSTON, Jan. 5, 2015 /PRNewswire-USNewswire/ -- Texas Children's Hospital is excited to announce

Dr. Benjamin L. Shneider as the new chief of its Gastroenterology, Hepatology and Nutrition Service.

Shneider, whose appointment was effective Jan. 1, was also appointed as professor of pediatrics at

Baylor College of Medicine. For more information about Gastroenterology, Hepatology and Nutrition at

Texas Children's visit texaschildrens.org.

"Dr. Shneider is an internationally-recognized clinician, researcher and expert in diseases of the liver

and gastrointestinal system, having previously held leadership positions at Yale University, Mt. Sinai

and the University of Pittsburgh. We are confident his leadership will continue to advance the

international prominence of our gastroenterology, hepatology and nutrition team," said Dr. Mark W.

Kline, physician-in-chief at Texas Children's and chair of the Department of Pediatrics at Baylor.

Shneider's clinical expertise includes liver disease in children with a particular focus on cholestatic liver

disorders and portal hypertension. His current basic research focus is on intestinal gene regulation,

while his translational and clinical research centers on pediatric liver diseases. His basic, translational

and clinical research in intestinal gene expression and liver diseases has been continuously funded by

the National Institutes of Health since 1993.

Shneider obtained his undergraduate education at Stanford University. He earned his medical degree

from the University of Chicago and completed pediatric residency training at Boston Children's

Hospital and Harvard Medical School, as well as a subspecialty fellowship in pediatric gastroenterology

at Yale University. Shneider served as chief of the Division of Pediatric Hepatology at the Mount Sinai

School of Medicine before moving to the University of Pittsburgh and Children's Hospital of Pittsburgh

Texas Children’s Hospital announces Dr. Benjamin L. Shneider as new c... http://www.prnewswire.com/news-releases/texas-childrens-hospital-ann...

1 of 3 5/24/17, 9:36 AM