Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.

Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical presentation, and LPI is included in the differential diagnosis of several disorders such as urea cycle disorders, lysosomal storage diseases, malabsorption diseases, autoimmune disorders, hemochromatosis, and osteoporosis. The phenotypic variability of LPI and the lack of a specific clinical presentation have caused various misdiagnoses. Here, we report two siblings diagnosed in their 4th decade of life with LPI, manifesting rare hyperferritinemia. Additionally, they presented with short stature, multiple bone fractures due to osteoporosis, and they showed an aversion to protein-rich food. Using a combination of exome sequencing, microarray analysis and qPCR, we identified a novel homozygous deletion in SLC7A7 encompassing exons 3 to 10, which is predicted to lead to disruption of SLC7A7 function. This is the first report of lysinuric protein intolerance in a Turkish family associated with this so far unknown deletion in SLC7A7.

Post-ERCP Complication Analysis of an Experienced Center.

BACKGROUND/AIM: Post-ERCP pancreatitis (PEP), post-sphincterotomy bleeding (PSB), and Post-ERCP perforation are the most common complications of endoscopic retrograde cholangiopancreatography (ERCP). Identification of risk factors for post-ERCP complications is critical for postoperative follow-up. This study aimed to evaluate the most common post-ERCP complication risk factors in an experienced center. METHODS/DESIGN: The sample consisted of 1288 patients with naive papillae. Demographic characteristics, patient-related risk factors, procedure-related risk factors and postoperative complications were recorded. RESULTS: Patients had a mean age of 61.5±18.4 years. The prevalence of PEP, PSB, and post-ERCP perforation was 7.9%, 11.9%, and 0.5%, respectively. Among patient-related factors, female sex (OR 1.672 95% Cl 1.046 to 2.672) and narrowing of the choledochal diameter (OR 2.910 95% Cl 1.830 to 4.626) were associated with PEP. From procedure-related factors; precut sphincterotomy (OR 2.172 95% Cl 1.182 to 3.994), difficult cannulation (OR 5.110 95% Cl 2.731 to 9.560), pancreatic cannulation (OR 5.692 95% Cl 0.994 to 32.602) and postprocedure residual stone (OR 2.252 95% Cl 1.403 to 3.614) were found to be associated with PEP. The successful procedure (OR 0.378 95% Cl 0.204 to 0.699) had a protective effect on PEP. Choledocholithiasis indication (OR 3.594 95% Cl 1.444 to 8.942) and small papilla (OR 2.042 95% Cl 1.170 to 3.562) were associated with the development of PSB. Choledochal stenosis, periampullary-diverticulum, oral anticoagulant, and oral antiaggregant use were not associated with the development of PSB. Of the patients with post-ERCP perforation, 85.7% had difficult cannulation, 57.1% had precut sphincterotomy, and 28.6% had periampullary-diverticulum. CONCLUSION: Female sex, biliary stricture, precut sphincterotomy, difficult cannulation, pancreatic cannulation, and postoperative residual stone were associated with PEP. Choledocholithiasis indication and the presence of small papilla were associated with PSB.

Can gastric botulinum toxin A injection be used as minimally invasive procedure in the short-term treatment of obesity?

BACKGROUND/AIM: Gastric botulinum toxin A (BTX-A) injection is a type of endoscopic obesity treatment option that delays gastric emptying. However, there is little and contradictory information concerning the treatment efficacy of BTX-A injection. This study evaluated the treatment efficacy of BTX-A injection in the treatment of obesity. MATERIALS AND METHODS: This was an open-label, prospective study of obese individuals with a body mass index >30 kg/m2 admitted to our clinic. The sample consisted of 72 consecutive treatment-naive patients with obesity divided into age-sex-matched three groups: gastric BTX-A injection (study group), calorie-restricted (15-20 Kcal/kg) diet (control) and bariatric surgery (BS) (control) groups. In the study group, 200 IU BTX-A was injected to the antrum and corpus endoscopically. The study and control groups were compared for their total body weight loss (TBWL) and excess body weight loss (EBWL) at the 6th month. RESULTS: Gastric BTX-A injection therapy was applied to 24 patients. The mean age was 39.1 ± 9.1/years. 54.1% of the patients (n = 13) was female. At the 6th month, the mean TBWL and EBWL of patients were; 10% ±4.1 and 37.2% ±13.9 for gastric BTXA injection group, 5% ±2.3 and 20.2% ±9.3 for diet group, 30.7% ±5.3 and 66.9% ±14.4 for BS group. Patients who underwent gastric BTX-A injection lost weight more effectively than patients who were on diet alone, while BS patients lost weight more effectively than those who had gastric BTX-A injection (P < 0.001). In the gastric BXT-A injection group, the first 3-month delta EBWL and TBWL (change of EBWL and TBWL percentages) were found significantly higher than the 3-6th month and 6-12th month (P = 0.001 and P < 0.001). CONCLUSION: Gastric BTX-A injection is a minimally invasive and short-term effective method that can be used in the treatment of obesity.

Can simple Non-Invasive Fibrosis Models Determine Prognostic Indicators (Fibrosis and Treatment Response) of Primary Biliary Cholangitis?

OBJECTIVE: The fibrosis stage during diagnosis and the response to ursodeoxycholic acid in the 1st year of treatment are considered to be prognostic indicators in primary biliary cholangitis (PBC). Determining these indicators with non-invasive models can enable the risk of liver failure to be monitored with continuous variables from the moment of diagnosis. The aim of this study was to evaluate the diagnostic performance of non-invasive models for determining the prognostic indicators in patients with PBC. MATERIALS AND METHODS: Data from patients with PBC were screened retrospectively. Patients were divided into early (≤2) and advanced (≥3) fibrosis groups. In addition, treatment response status according to the Paris-II criteria and liver failure risk (LFR) according to the UK-PBC score were determined. The S-Index consisting of gamma-glutamyltransferase (GGT), platelets (PLT), and albumin, (S-index: 1000×GGT÷[PLT×Albumin2]), other non-invasive models were calculated. The diagnostic effectiveness of non-invasive indicators to determine the fibrosis stage, response to treatment, and low LFR was analyzed. RESULTS: Fifty-three patients were included in the study. The overall mean age at diagnosis was 49.6±13.6 years and 86.8% of the patients (n=46) were female. The S-Index was able to determine fibrosis stage, treatment responded, and patients with low LFR (AUC: 0.747, 0.823, and 0.752; p=0.006, <0.001, and 0.0007, respectively). Furthermore, S-Index found to superior to other non-invasive indicators in terms diagnosis of prognostic indicators of PBC. CONCLUSION: S-index is a practical and inexpensive non-invasive model that can identify liver fibrosis and treatment response in patients with PBC. It can be used as a continuous variable prognostic model in PBC.

Bone Mineral Density Screening and the Frequency of Osteopenia/Osteoporosis in Turkish Adult Patients With Celiac Disease.

BACKGROUND: The aim of this study was to evaluate the prevalence of osteopenia and osteoporosis in adult patients with celiac disease (CD) at diagnosis and/or in the follow-up after a gluten-free diet (GFD). METHODS: Adult patients diagnosed with CD were retrospectively screened through follow-up records and computer databases. Patients assessed by dual-energy X-ray absorptiometry (DEXA) at diagnosis and/or in the follow-up after a GFD were included in the study. RESULTS: One hundred patients who underwent a DEXA scan at least once after diagnosis or after being on a GFD were included in the study. The mean age of the patients at diagnosis was 34.61 ± 10.3 years, and 84% of the patients (n = 84) were female. At the time of diagnosis (n = 46), the prevalence of osteopenia and osteoporosis was 67.3% and 15.2%, respectively, at the lumbar spine, and 43.4% and 10.8%, respectively, at the femur. After a GFD (n = 78), the prevalence of osteopenia and osteoporosis was 61.5% and 8.9%, respectively, at the lumbar spine, and 37.1% and 2.5%, respectively, at the femur. CONCLUSION: The prevalence of CD patients with low bone mineral density (BMD) is high after diagnosis and in the follow-up after a GFD. It is important for all patients with CD to undergo a DEXA scan to determine the follow-up and/or treatment characteristics.