araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Catatonia in Nodding Syndrome and Lorazepam Treatment

Summary: Nodding Syndrome is an enigmatic neuropsychiatric syndrome affecting children and adolescents mostly in Eastern Africa. The symptoms of Nodding Syndrome and catatonia seem to overlap. The researchers' objectives in this study were to investigate the presence and types of catatonic symptoms in children with Nodding Syndrome and observe their response to one or two doses of lorazepam, the first-line treatment for catatonia.

Detailed description: In this pilot study, the investigators examined a convenient sample of children and adolescents with Nodding Syndrome (NS) for catatonic symptoms using standardized criteria. The investigators also tested whether oral lorazepam (LZP) administered to those who qualified to have pediatric catatonia would alleviate symptoms. This was a cross-sectional descriptive study of catatonia in NS patients in Northern Uganda and an exploratory study of using one or two doses of lorazepam as a catatonia test.
  All the children with confirmed NS that had 2 or more of symptoms of catatonia were recruited to undergo the catatonia test using oral Lorazepam EG® (n.v. Eurogenerics s.a. Brussels, Belgium) using the 1 mg formulation tablets. It was proposed to perform a catatonia test using Lorazepam (LZP) as first choice medication, as this is the medication that has been used most commonly in pediatric catatonia.
  The amount of drug given was based on the weight of the child. The lower dose (0.5 mg) was used as starting dose for patients with <30 kg body weight, while the higher dose (1 mg) as the starting dose for patients with >30 kg body weight.
  A positive response to a catatonia test consisted of a reduction in catatonic symptoms, 30 or 60 minutes later, by at least 50% .Positive responses were documented by video footage before and after administration of LZP.
  If no response to the initial dose of LZP, was observed after one hour, a second administration of the same medication at double the dose was given. Catatonia was again assessed at 30 and 60 minutes thereafter. If no response was observed, the test was considered negative.

Eligibility: Inclusion Criteria:
  1. Children and adolescents with Nodding Syndrome as defined by the consensus definition agreed upon in the international Nodding Syndrome research meeting held in Kampala, Uganda July 2012.
  2. Presence of two or more catatonic items on the Kampala Catatonia Panel.
  3. Written informed consent from caregiver.
  Exclusion Criteria:
  1. Children and adolescents with Nodding Syndrome who had a history of having used a benzodiazepine drug in the past 48 hours prior to intervention.
  2. Children and adolescents with Nodding Syndrome who had a concurrent acute illness (e.g febrile illness, pneumonia) at time of assessment.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Prevalence of Small Bowel Polyps in Patients With Sporadic Duodenal Adenomas

Summary: Little is known about the prevalence of small bowel polyps in patients with sporadic Duodenal/Ampullary polyps. The investigators aim to investigate the prevalence of small bowel polyps in patients with sporadic (ie not related to FAP or PJS) duodenal/ampullary adenomas by performing small bowel capsule endoscopy and comparing the results to those acquired from a control cohort undergoing VCE for accepted indication at our centre.

Detailed description: Investigation for suspected SB tumors is an acceptable indication for VCE. SB polyps occur frequently in patients with FAP/PJS and in patients with FAP, they are significantly more common in patients with Duodenal/Ampullary polyps. Little is known about the prevalence of small bowel polyps in patients with sporadic Duodenal/Ampullary polyps.
  The primary hypothesis is that patients with sporadic (ie not related to FAP or PJS) duodenal/ampullary adenomas have a higher prevalence of small bowel polyps compared with patients undergoing VCE for various indications who have not had a duodenal polyp diagnosed or removed.
  Patients who have had a previous diagnosis and/or treatment of a duodenal/ampullary polyp at Westmead hospital will receive VCE examination. Control population will consist of age matched controls having VCE for OGIB/IDA at Westmead hospital. Patients will be required to have had a documented colonoscopy within the previous three years. If colonoscopy was not performed within this time frame, the patient will have a colonoscopy as part of the study protocol.

Eligibility: Inclusion Criteria:
  -  Cases - Patients who were diagnosed with or underwent resection of a duodenal adenoma/ampulloma at Westmead hospital between the years 2005-2014.
  -  Controls - Patients undergoing VCE procedure for the evaluation of obscure gastrointestinal bleeding (OGIB) or Iron deficiency anemia (IDA).
  Exclusion Criteria:
  -  None

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Octreotide in the Prevention of Postoperative Complications After Pancreaticoduodenectomy

Summary: pancreaticoduodenectomy (PD) is the standard operation for treatment of patients with benign and malignant pancreatic and periampullary diseases. Despite improved surgical technique and postoperative care, the mortality rate after PD is high reaching up to 30%, due to high incidence of postoperative complications . Pancreatic fistula (PF) is the one of the most frequent complications of PD and the major contributor to postoperative morbidity The aim of this study to evaluate the effect of the perioperative octreotide use after PD for prevention of the postoperative pancreatic fistula. The secondary outcomes are overall postoperative complications, mortality and the cost benefit relationship of the use of the perioperative octreotide.

Detailed description: This study will be a prospective randomized controlled trial for perioperative use of octreotide in patients after PD for pancreatic and periampullary tumours from May 2014 to April 2017 in Gastroenterology surgical center, Mansoura University, Egypt.
  The primary outcome of the study is the effect of perioperative use of octreotide on the rate of development of postoperative pancreatic fistula in patients after PD for pancreatic and periampullary tumours. The secondary outcome is postoperative overall complications, mortality, duration of the hospital length of stay and cost-benefit relationship of perioperative use of octreotide.
  Enrolled patients will be randomized to either the octreotide or the placebo group. The randomization process will be done using closed envelop method and will be withdrawn by a nurse after pancreaticoduodenectomy . Patients in the octreotide group will receive sandostatin 100ug SC every 8 hours daily staring from the day of operation to the postoperative day 7. Patients in the placebo group will receive saline administered in a similar manner.

Eligibility: Inclusion Criteria:
  1. All patients with pancreatic and periampullary tumours anticipated for PD will be eligible to participate in this trial.
  2. patients with non dilated pancreatic duct and soft pancreas
  Exclusion Criteria:
  Exclusion criteria:
  1. Age over 70.
  2. Patients who underwent total or distal pancreatic resection.
  3. Patients with unresectable disease who will undergo any surgical procedure other than PD for pancreatic and periampullary tumours.
  4. Patients underwent neoadjuvant chemotherapy or radiotherapy.
  5. PD more than 3mm.
  6. firm pancreas.
  7. PJ

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes

Summary: Noonan and LEOPARD syndromes share, with variable severity, different clinical traits, notably craniofacial manifestations, cardiopathies, short stature, and juvenile cancers.
  The main genetic cause of these syndromes is missense mutation of the gene encoding the ubiquitous tyrosine phosphatase Shp2, found in more than half the patients with NS and in 80% of LS cases. Shp2 plays pivotal roles in development, growth, and metabolism by regulating key signalling pathways (Ras/Mitogen activated protein kinase (MAPK), Phosphoinositide-3 Kinases (PI3K)/Akt) in response to growth factors/hormones. Deregulation of these signalling pathways has been causally linked to NS and LS pathophysiology.
  This project aims at better understanding hormonal sensitivity abnormalities in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) caused by mutations of the tyrosine phosphatase Shp2.
  To reach this goal, the investigators will take advantage of different tissues (fibroblasts ± adipocytes) from patients with NS / LS compared to healthy controls.
  All patients will have a skin biopsy and only patients about to undergo surgery will have a adipose tissue biopsy.

Detailed description: The activation of different signaling pathways (Ras/MAPK, PI3K/Akt) in response to growth factors/hormones (growth hormone, insulin) in fibroblasts and/or in adipocytes from patients with NS or LS will be compared to those of healthy subjects.
  These data will be correlated to clinical, hormonal, and biochemical characteristics of patients

Eligibility: Inclusion Criteria:
  Patients with Noonan syndrome (NS) or LEOPARD syndrome (LS):
  -  female or male
  -  age between 5 to 15 years
  -  clinical diagnosis of NS or LS according to published criteria
  -  signed informed consent of parents
  Healthy controls:
  -  female or male
  -  age between 5 to 15 years
  -  no personal history of syndrome or chronic disease
  -  planned surgical procedure
  -  signed informed consent of parents
  Exclusion Criteria:
  -  age below 5 or above 15 years
  -  pregnancy
  In healthy controls: syndromic or chronic disease

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

Summary: Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) is a syndrome named in 2007. The hallmark of the syndrome is the rapid onset obesity and dysregulation of central ventilation. There is little information about the metabolic changes that lead to the rapid onset obesity in these children. The investigators would like to study the metabolic phenotype of these children to understand the disturbances in energy balance that lead to the rapid onset obesity.

Detailed description: Late-onset hypoventilation syndrome with hypothalamic dysfunction was first described in 1965 and renamed to ROHHAD syndrome in 2007 by Ize-Ludlow et al.
  The hallmark of ROHHAD syndrome is rapid-onset obesity starting at approximately 1.5 years of age with weight gain of 12-20 kg/year, central hypoventilation distinct from the obstructive hypoventilation caused by obesity, hyperphagia, a spectrum of pituitary hormonal dysfunction, and autonomic disturbances including temperature, blood pressure, and nociception abnormalities. Some children have been noted with developmental and behavioral abnormalities. Tumors of neural crest origin have been identified in 25-33% of the patients. The etiology of ROHHAD syndrome and the cause of rapid onset obesity is unknown.
  The aims of this study are to understand the whole transcriptome profiling of patient specific induced pluripotent cell (iPSC) derived hypothalamic neurons to understand the transcriptional level changes that give rise to the manifestations seen in ROHHAD syndrome.
  Aim 1. Generate patient specific iPSC-derived hypothalamic neurons from children with ROHHAD syndrome and their unaffected first degree relatives.
  Aim 2: Compare the whole transcriptome profiling of the patient derived cells compared to those of unaffected relatives and reference datasets to understand the differences in transcriptome that gives rise to ROHHAD syndrome.
  Aim 3: Selected patients may be invited to participate for detailed metabolic phenotyping to understand the mechanisms of excessive weight gain.

Eligibility: Inclusion Criteria:
  -  children with ROHHAD syndrome
  Exclusion Criteria:
  -  children with known genetic causes of obesity

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Digital Dysmorphology Project

Summary: In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes.
  By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Detailed description: In this study, investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD) . Local texture features based on Contourlet transform and local binary pattern are investigated to represent the facial characteristics. A support vector machine classifier is then used to discriminate between normal and abnormal cases. Accuracy, precision and recall are used to evaluate the method. After validating the method, this technology will then be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes.
  By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Eligibility: Inclusion Criteria:
  -  Pediatric subject with Down syndrome.
  -  Healthy pediatric siblings of a subject with Down syndrome and/or other individuals with another genetic referral to serve as a control group.
  -  Subject must be less than 18 years old.
  Exclusion Criteria:
  -  Subjects 18 years or older.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation

Summary: Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients' presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.


Eligibility: Inclusion Criteria :
  -  Older than 18 or parental agreement in case of children.
  For patient with early-onset breast cancer :
  -  Invasive breast cancer, regardless of histological type or stage, diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2 or TP53
  For patient with early-onset ovarian cancer :
  -  Invasive ovarian cancer, regardless of histological type or stage, diagnosed before 41 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2
  Patient with early-onset colorectal cancer :
  -  Invasive colorectal cancer diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
  -  No genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation
  Patient with pediatric cancer :
  -  Non haematological tumour diagnosed before 16 years, with Li-Fraumeni presentation.
  -  No genomic alteration of TP53
  Patient with Multiple primary malignant tumours :
  -  Multiple synchronous or metachronous primary malignant tumors with early-onset
  -  No syndromic presentation
  Exclusion Criteria:
  -  Any already known deleterious mutations according to the patient's phenotype

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Safety and Efficacy of ProQuad® in Children 6-24 Month Being Evaluated for Solid Organ Transplant

Summary: A prospective, multisite study to evaluate the Impact of Measles, Mumps, Rubella and Varicella ProQuad® vaccination in pediatric patients 6-24 months of age who are being considered and/or evaluated for any solid organ transplant (heart, liver or kidney)

Detailed description: Primary Aim:
  To measure the antibody response to ProQuad® vaccination given earlier than the current recommended age in patients from the age of 6 months to 24 months who are being considered and/or evaluated for any solid organ transplant (heart, liver or kidney) within the next five years. These subjects would not reach the recommended ages to receive the vaccine before the transplant.
  Hypothesis:
  The Investigator proposes the hypothesis that the proposed study population will mount a clinically significant response to two (2) doses of the ProQuad® vaccine.
  Primary Endpoint:
  With respect to expected outcomes, the work proposed is expected to provide tools for optimizing the ProQuad® vaccination strategy in this population.
  Secondary Aim:
  To determine the safety of ProQuad® vaccination in children aged 6 months to 24 months who are being considered and/or evaluated for any solid organ transplant (heart, liver, kidney).
  Hypothesis :
  The Investigator proposes the hypothesis that the study population will have similar safety profiles compared to children who receive the vaccine at the recommended ages.
  Secondary Endpoint:
  The secondary outcome measure is represented by the children in the study having either no adverse effects or minimal adverse effects from the ProQuad® vaccine. Adverse effects will be monitored via Electronic Medical Records (EMR) for Emergency Department (ED), hospital or clinic visits, follow-up phone calls to the family/subjects, as well as the vaccination report card that the parents/legal guardians of the participants in the study will complete for their child for 7 days after he/she receives each dose of the vaccine.

Eligibility: Inclusion Criteria:
  1. Parent and/or legal guardian willing and able to give informed consent.
  2. Patients 6 months to 24 months of age who are being considered and/or evaluated for any solid organ transplant within the next five (5) years who are willing:
  -  to receive two doses of ProQuad® at least 30 days but no more than 365 days apart.
  -  to participate in the three (3) antibody titer blood draws.
  Exclusion Criteria:
  1. History of allergy to any vaccine component, bleeding disorder, exposure to measles, mumps, rubella, varicella, or zoster in the 30 days prior to vaccination.
  2. Receipt of any blood product or immunoglobulin received in the previous 180 days prior to vaccination.
  3. Previously received any measles, mumps, rubella and/or varicella vaccine either alone or in combination prior to vaccination.
  4. Any condition which causes the investigator to determine that the subject is not appropriate to enroll.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Safety and Tolerability of Lactoferrin in Very Low Birth Weight Infants

Summary: To evaluate the safety and tolerability of three different lactoferrin doses in preterm infants

Detailed description: Aim1: To evaluate the safety and tolerability of three different lactoferrin doses in preterm infants
  1. Lactoferrin related adverse events and serious adverse events
  2. Number of infants reaching full feeds while receiving lactoferrin (120 ml/kg/day)
  3. Episodes of not receiving enteral feedings for > 24 hours once feeding is initiated
  Aim 2: To evaluate lactoferrin absorption and excretion.
  1. Examine lactoferrin levels in saliva, urine, plasma and stool
  2. Examine lactoferrin levels in maternal and human donor milk.
  Aim 3: To evaluate the effect of lactoferrin on the intestinal microbiome structure.

Eligibility: Inclusion Criteria:
  -  < 15 days of age and receiving enteral feedings
  -  < 1500 grams birth weight
  -  <37 weeks gestation
  Exclusion Criteria:
  -  Congenital bowel obstruction ( esophageal, duodenal, small bowel or anal atresias, Hirschsprung disease, malrotation)
  -  Known necrotizing enterocolitis or bowel perforation

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Role of Hemostatic Powder (Endo-clotTM) in Success and Prevention of Bleeding Within Gastric Cancer Patients With Bleeding

Summary: Gastrointestinal(GI) hemorrhage related with gastric cancer is prevalent in advanced cases mostly. As endoscopic hemostatic methods such as argon plasma ablation (APC) had developed, controlling GI hemorrhage in gastric cancer is much easier these days. but re-bleeding rate is still high, even after successful hemostasis with APC or electrical coagulation. Furthermore patients who were experienced re-bleeding are expected poorer survival outcomes than those who are not. So excellent bleeding control in gastric cancer is most important in GI hemorrhage of gastric cancer.
  Recently developed hemostatic powder [Endo-Clot(TM)] is easy to use and have proven its usefulness in GI hemorrhage in peptic ulcer diseases. So in this study, investigator will try to find out feasibility & safety of Endo-Clot(TM) in GI hemorrhage in gastric cancer.


Eligibility: Inclusion Criteria:
  -  Age over 19 and less 80 yeas old
  -  Gastric cancer was diagnosed with biopsy and/or computed tomography
  -  Endoscopic hemostasis is needed upto GI hemorrhage
  -  Endoscopic examination is available in 24hours
  -  ECOG performance status(PS) <2
  Exclusion Criteria:
  -  Double primary caner
  -  Hypersensitivity of hemostatic power[Endo-Clot(TM)]
  -  Variceal bleeding or benign gastric ulcer bleeding
  -  Hemodynamically unstable with low systolic BP<90mmHg and/or tachycardia PR>120bpm
  -  endoscopic hemostasis within 7 days before screening
  -  Contraindication for endoscopic examination
  -  Pregnant
  -  Breast feeding
  -  bleeding tendency with low platelet count <50,000 /mm^3 and/or INR>2
  -  Bacterial infection with needs for antibiotics therapy
  -  Unavailable to discontinue anti-coagulation agent for 3days
  -  Vascular shunt
  -  Cardiovascular and/or pulmonary diseases
  -  Active hepatitis or severe liver diseases
  -  Renal dysfunction
  -  Bone marrow dysfunction
  -  Neurologic deficit and/or psychotic feature
  -  Unavailable informed consent

Relevance to patient case: not relevant