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Juvenile hemochromatosis (JH), type 2A hemochromatosis, is a rare autosomal recessive disorder of systemic iron overload due to homozygous mutations of HJV (HFE2), which encodes hemojuvelin, an essential regulator of the hepcidin expression, causing liver fibrosis, diabetes, and heart failure before 30 years of age, often with fatal outcomes. We report two Japanese sisters of 37 and 52 years of age, with JH, who showed the same homozygous HJV I281T mutation and hepcidin deficiency and who both responded well to phlebotomy on an outpatient basis. When all reported cases of JH with homozygous HJV mutations in the relevant literature were reviewed, we found&mdash, for the first time&mdash, that JH developed in females and males at a ratio of 3:2, with no age difference in the two groups. Furthermore, we found that the age of onset of JH may depend on the types of HJV mutations. In comparison to patients with the most common G320V/G320V mutation, JH developed earlier in patients with L101P/L101P or R385X/R385X mutations and later in patients with I281T/I281T mutations.

Aims To study the possibility of constructing a remote interpretation system for retinal images. Methods An ultra-widefield (UWF) retinal imaging device was installed in the internal medicine department specializing in diabetes to obtain fundus images of patients with diabetes. Remote interpretation was conducted at Nagoya City University using a cloud server. The medical data, severity of retinopathy, and frequency of ophthalmologic visits were analyzed. Results Four hundred ninety-nine patients (mean age, 62.5 ± 13.4 years) were included. The duration of diabetes in 240 (48.1%) patients was less than 10 years and 433 (86.7%) patients had a hemoglobin (Hb) A1c below 8%. Regarding the retinopathy severity, 360 (72.1%) patients had no diabetic retinopathy (NDR), 63 (12.6%) mild nonproliferative retinopathy (NPDR), 38 (7.64%) moderate NPDR, 13 (2.6%) severe NPDR, and 25 (5.0%) PDR. Two hundred forty-one (48.3%) patients had an ophthalmologic consultation within 1 year, 104 (20.8%) had no history of an ophthalmologic consultation. DR was not present in 86 (82.7%) patients who had never had an ophthalmologic examination, 30 (78.9%) patients with severe NPDR or PDR had had an ophthalmologic visit within 1 year. The frequency of ophthalmic visits was correlated negatively with age, diabetes duration, HbA1c, and severity of retinopathy. Conclusion Remote interpretation of DR using UWF retinal imaging was useful for retinopathy screening. During the COVID-19 pandemic, a remote screening system that can ensure compulsory social distancing and reduce the number of ophthalmic visits can be a safe system for patients and clinicians.

Background: Transnasal esophagogastroduodenoscopy (EGD) has been suggested to be better tolerated by the cardiovascular system with a lower elevation of systolic blood pressure (BP) than oral EGD. However, limited information is available on the precise comparison of cardiovascular responses between the two endoscopic procedures using the same ultrathin scope. Methods: A prospective patient-centered randomized study was performed to examine BP, pulse rate (P) and peripheral blood oxygen saturation (SpO2) during nasal and oral EGD using the same ultrathin endoscope. The acceptability of EGD was also assessed using a visual analog scale. A total of 1147 patients were divided into four groups: patients who preferred oral or nasal EGD underwent endoscopy according to their preference (preferred group) and patients without preference were randomly assigned to oral and nasal EGD (randomized group). Results: The study design excluded a bias of the patient's preference. The randomized group involved 149 patients among whom 74 and 75 cases were assigned to the transnasal and oral EGD groups, respectively. The results in the randomized group confirmed a significantly lower elevation of BP in patients undergoing transnasal EGD than those undergoing oral EGD, while the increase in P was slightly smaller in patients undergoing the nasal procedure. Changes in SpO2 were minimal in either procedure. Analyses of patient acceptability showed a favorable evaluation of nasal EGD. Conclusions: The present study confirmed less cardiovascular stress using nasal EGD than oral endoscopy when compared using the same ultrathin scope.

Biloma is an infrequent complication of nonsurgical treatments of hepatocellular carcinoma (HCC), including transarterial embolization (TAE), and it is often associated with ischemic injuries of the biliary tract after therapy. We here report on a case featuring successful internal drainage of an extrahepatic biloma into the duodenum by a route via the cholecyst, cholecystic duct, and common bile duct under fluoroscopic control. An extrahepatic biloma developed after urgent TAE for ruptured HCC and became contaminated. Radiography with contrast medium through the percutaneous drainage tube revealed a fistula between the biloma and gallbladder. The drainage catheter was introduced into the gallbladder through the fistula, from where it subsequently reached the duodenum via the cholecystic and common bile ducts. The internal drainage route played a major role in the rapid elimination of the biloma, which did not recur after the tube was withdrawn. To our knowledge, this is the first report of internal drainage of a biloma through the cholecystic and common bile ducts.

Cardiac autonomic neuropathy, representing decreased parasympathetic nerve activity and predominance of sympathetic tone, is often encountered in diabetic patients, and leads to an increased risk of cardiovascular events including arrhythmia. To evaluate the potential cardiovascular risk of diabetics in performing esophagogastroduodenoscopy (EGD), we compared the autonomic function and cardiovascular parameters during EGD between diabetic and nondiabetic patients.The autonomic nervous responses in 86 consecutive outpatients (42 type 2 diabetics and 44 nondiabetics) were determined by power spectral analysis (PSA) of heart-rate variations on an electrocardiogram. PSA data were based on two peaks in the low-frequency (LF) and high-frequency (HF) ranges. HF power and the ratio of LF power/HF power represented parasympathetic and sympathetic nerve activities, respectively.Diabetic patients showed significantly lower DeltaHF power and significantly higher DeltaLF power/HF power than nondiabetics, suggesting enhanced predominance of sympathetic activity and marked suppression of parasympathetic function. Significant correlations were found between these autonomic parameters and the diabetic duration. A slightly higher incidence of ventricular premature contractures was observed in diabetics during EGD. However, no significant difference was found in pulse or blood pressure increments during EGD between the two groups.This is the first study demonstrating an imbalance of autonomic function in diabetics during EGD, which may be linked to a slightly higher risk of arrhythmia.

AIM: To investigate if transnasal endoscopic retrograde cholangiopancreatography (n-ERCP) using an ultrathin forward-viewing scope may overcome the disadvantages of conventional oral ERCP (o-ERCP) related to the large-caliber side-viewing duodenoscope. METHODS: The study involved 50 patients in whom 25 cases each were assigned to the o-ERCP and n-ERCP groups. We compared the requirements of esophagogastroduodenoscopy (EGD) prior to ERCP, rates and times required for successful cannulation into the pancreatobiliary ducts, incidence of post-procedure hyperamylasemia, cardiovascular parameters during the procedure, the dose of a sedative drug, and successful rates of endoscopic naso-biliary drainage (ENBD). RESULTS: Screening gastrointestinal observations were easily performed by the forward-viewing scope and thus no prior EGD was required in the n-ERCP group. There was no significant difference in the rates or times for cannulation, or incidence of hyperamylasemia between the groups. However, the cannulation was relatively difficult in n-ERCP when the scope appeared U-shape under fluoroscopy. Increments of blood pressure and the amount of a sedative drug were significantly lower in the n-ERCP group. ENBD was successfully performed succeeding to the n-ERCP in which mouth-to-nose transfer of the drainage tube was not required. CONCLUSION: n-ERCP is likely a well-tolerable method with less cardiovascular stress and no need of prior EGD or mouth-to-nose transfer of the ENBD tube. However, a deliberate application is needed since its performance is difficult in some cases and is not feasible for some endoscopic treatments such as stenting.